GENR { RETE|ID 1 HUgn0000001 CHR 1 19 DID 1 LocusLink:1 MAP 1 19q13.4 NAM 1 alpha-1-B glycoprotein ORG 1 Homo sapiens SYM 1 A1BG ID|HUgn0000001 DID|LocusLink:1 ORG|Homo sapiens RSQ|REFSEQ:NM_130786 RPA|REFPROT:NP_570602 DBA|XM:NM_130786 |NA:AC010642 |NA:AF414429 |NA:AK055885 |NA:AK056201 |NA:BC035719 |NA:none PAC|XP:NP_570602 SYM|A1BG NAM|alpha-1-B glycoprotein SYN|A1B |ABG |GAB FNC|alpha 1B-glycoprotein |biological_process unknown ; GO:0000004 REAB|The protein encoded by this gene is a plasma glycoprotein of unknown function. The |protein shows sequence similarity to the variable regions of some immunoglobulin |supergene family member proteins. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=390608 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119638 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130786 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_130786 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=390608 DBL|UNIGENE:Hs.390608 |OMIM:138670 |SNP:1 MAP|19q13.4 ENZ|molecular_function unknown ; GO:0005554 CEL|extracellular ; GO:0005576 HG|species == rat; score == 409; expect == 2e-114; MEOW:ref|NP_071594.2| (44%) |species == rat; score == 354; expect == 1.2e-97; MEOW:ref|XP_235351.2| (46%) |species == Human; gene == IGSF1; score == 184; expect == 1.3e-46; MEOW:HUgn0003547 (31%) |species == Mouse; gene == Igsf1; score == 174; expect == 1.3e-43; MEOW:MGgn0032854 (30%) } # EOR GENR { RETE|ID 1 HUgn0000002 CHR 1 12 DID 1 LocusLink:2 MAP 1 12p13.3-p12.3 NAM 1 alpha-2-macroglobulin ORG 1 Homo sapiens SYM 1 A2M ID|HUgn0000002 DID|LocusLink:2 ORG|Homo sapiens RSQ|REFSEQ:NM_000014 RPA|REFPROT:NP_000005 DBA|XM:NM_000014 |NA:X68728 |NA:Z11711 |NA:BC040071 |NA:M11313 |NA:M36501 |NA:none PAC|XP:NP_000005 SYM|A2M NAM|alpha-2-macroglobulin FNC|alpha 2 macroglobulin precursor |intracellular protein transport ; GO:0006886 REAB|Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits |many proteases, including trypsin, thrombin and collagenase. A2M is implicated in |Alzheimer disease (AD) due to its ability to mediate the clearance and degradation |of A-beta, the major component of beta-amyloid deposits. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74561 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119639 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000014 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000014 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=74561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 DBL|UNIGENE:Hs.74561 |OMIM:103950 |SNP:2 |UWCM:119639.html MAP|12p13.3-p12.3 PHP|Alzheimer disease, susceptibility to |Emphysema due to alpha-2-macroglobulin deficiency ENZ|protein carrier activity ; GO:0008320 |serine protease inhibitor activity ; GO:0004867 |wide-spectrum protease inhibitor activity ; GO:0017114 HG|species == rat; score == 2118; expect == 0.0; MEOW:ref|NP_036620.1| (73%) |species == Human; gene == PZP; score == 2069; expect == 0.0; MEOW:HUgn0005858 (72%) |species == Mouse; gene == A2m; score == 2065; expect == 0.0; MEOW:MGgn0041598 (71%) |species == rat; score == 1713; expect == 0.0; MEOW:ref|XP_346725.1| (59%) |species == Mouse; gene == Mug1; score == 1697; expect == 0.0; MEOW:MGgn0008069 (58%) |species == Fruitfly; gene == TepII; score == 480; expect == 3e-135; MEOW:FBgn0041182 (28%) |species == Worm; gene == ZK337.1b; score == 462; expect == 8e-130; MEOW:CEgn0020894 (28%) |species == Worm; gene == ZK337.1c; score == 457; expect == 3e-128; MEOW:CEgn0034425 (27%) |species == Worm; gene == ZK337.1a; score == 456; expect == 2e-128; MEOW:CEgn0020893 (28%) |species == Mosquito; gene == LOC19522; score == 342; expect == 4.0e-94; MEOW:AGgn0019522 (33%) } # EOR GENR { RETE|ID 1 HUgn0000003 CHR 1 12 DID 1 LocusLink:3 MAP 1 12p13.3-p12.3 NAM 1 alpha-2-macroglobulin pseudogene ORG 1 Homo sapiens SYM 1 A2MP ID|HUgn0000003 DID|LocusLink:3 CLA|Pseudogene ORG|Homo sapiens DBA|NA:M24415 SYM|A2MP NAM|alpha-2-macroglobulin pseudogene CHR|12 MAP|12p13.3-p12.3 DBL|SNP:3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128103 } # EOR GENR { RETE|ID 1 HUgn0000008 CHR 1 11 DID 1 LocusLink:8 MAP 1 11p15 NAM 1 atrophia areata, peripapillary chorioretinal degeneration ORG 1 Homo sapiens SYM 1 AA ID|HUgn0000008 DID|LocusLink:8 ORG|Homo sapiens SYM|AA NAM|atrophia areata, peripapillary chorioretinal degeneration CHR|11 DBL|OMIM:108985 MAP|11p15 PHP|Atrophia areata URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:568984 } # EOR GENR { RETE|ID 1 HUgn0000009 CHR 1 8 DID 1 LocusLink:9 MAP 1 8p23.1-p21.3 NAM 1 N-acetyltransferase 1 (arylamine N-acetyltransferase) ORG 1 Homo sapiens SYM 1 NAT1 ID|HUgn0000009 DID|LocusLink:9 ORG|Homo sapiens RSQ|REFSEQ:NM_000662 RPA|REFPROT:NP_000653 DBA|XM:NM_000662 |NA:AF008204 |NA:AF032677 |NA:AF032678 |NA:AF067408 |NA:AF071552 |NA:AF082903 |NA:AF082904 |NA:U80835 |NA:X17059 |NA:BC013732 |NA:BC047666 |NA:BX647521 |NA:D90041 PAC|XP:NP_000653 SYM|NAT1 NAM|N-acetyltransferase 1 (arylamine N-acetyltransferase) SYN|AAC1 FNC|N-acetyltransferase 1 CHR|8 PRD|arylamine N-acetyltransferase-1 |arylamide acetylase 1 (N-acetyltransferase 1) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155956 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=458430 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=9[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125364 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000662 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000662 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155956 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=458430 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA17 |http://www.louisville.edu/medschool/pharmacology/NAT.html DBL|UNIGENE:Hs.155956 |UNIGENE:Hs.458430 |OMIM:108345 |SNP:9 ENZ|EC:2.3.1.5 |arylamine N-acetyltransferase activity ; GO:0004060 MAP|8p23.1-p21.3 PHP|Arylamine N-acetyltransferase 1; N- or O-acetylates arylamines and heterocyclic amines, detoxifies carcinogens and xenobiotics HG|species == Mouse; gene == Nat2; score == 510; expect == 3e-145; MEOW:MGgn0008196 (81%) |species == rat; score == 501; expect == 1e-142; MEOW:ref|NP_446306.1| (80%) |species == Human; gene == NAT2; score == 483; expect == 7e-137; MEOW:HUgn0000010 (80%) |species == rat; score == 461; expect == 2e-130; MEOW:ref|NP_446305.1| (75%) |species == Mouse; gene == Nat1; score == 454; expect == 1e-128; MEOW:MGgn0008195 (73%) |species == rat; score == 417; expect == 3e-117; MEOW:ref|XP_224762.1| (68%) |species == Mouse; gene == Nat3; score == 410; expect == 4e-115; MEOW:MGgn0008197 (68%) } # EOR GENR { RETE|ID 1 HUgn0000010 CHR 1 8 DID 1 LocusLink:10 MAP 1 8p22 NAM 1 N-acetyltransferase 2 (arylamine N-acetyltransferase) ORG 1 Homo sapiens SYM 1 NAT2 ID|HUgn0000010 DID|LocusLink:10 ORG|Homo sapiens RSQ|REFSEQ:NM_000015 RPA|REFPROT:NP_000006 DBA|XM:NM_000015 |NA:AF042740 |NA:AF055874 |NA:AF055875 |NA:D10870 |NA:D10871 |NA:D10872 |NA:M75163 |NA:M75164 |NA:U23052 |NA:U23434 |NA:U53473 |NA:X14672 |NA:BC015878 |NA:D90040 |NA:D90042 |NA:none PAC|XP:NP_000006 SYM|NAT2 NAM|N-acetyltransferase 2 (arylamine N-acetyltransferase) SYN|AAC2 FNC|arylamide acetylase 2 |metabolism ; GO:0008152 REAB|The intronless NAT2 gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase |2). This enzyme functions to both activate and deactivate arylamine and hydrazine |drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation |polymorphism in which human populations segregate into rapid,intermediate, and slow |acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences |of cancer and drug toxicity.A second arylamine N-acetyltransferase gene (NAT1) is |located near NAT2. CHR|8 PRD|Arylamine N-acetyltransferase-2 |arylamide acetylase 2 (N-acetyltransferase 2, isoniazid inactivation) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125365 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000015 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000015 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA18 |http://www.louisville.edu/medschool/pharmacology/NAT.html DBL|UNIGENE:Hs.2 |OMIM:243400 |SNP:10 ENZ|EC:2.3.1.5 |arylamine N-acetyltransferase activity ; GO:0004060 |acetyltransferase activity ; GO:0016407 |transferase activity ; GO:0016740 MAP|8p22 HG|species == Human; gene == NAT1; score == 483; expect == 7e-137; MEOW:HUgn0000009 (80%) |species == Mouse; gene == Nat2; score == 458; expect == 2e-129; MEOW:MGgn0008196 (74%) |species == rat; score == 450; expect == 5e-127; MEOW:ref|NP_446306.1| (73%) |species == rat; score == 443; expect == 4e-125; MEOW:ref|NP_446305.1| (74%) |species == Mouse; gene == Nat1; score == 433; expect == 5e-122; MEOW:MGgn0008195 (72%) |species == rat; score == 390; expect == 4e-109; MEOW:ref|XP_224762.1| (66%) |species == Mouse; gene == Nat3; score == 382; expect == 2e-106; MEOW:MGgn0008197 (65%) } # EOR GENR { RETE|ID 1 HUgn0000011 DID 1 LocusLink:11 NAM 1 arylamide acetylase pseudogene ORG 1 Homo sapiens SYM 1 AACP ID|HUgn0000011 DID|LocusLink:11 CLA|Pseudogene ORG|Homo sapiens SYM|AACP NAM|arylamide acetylase pseudogene SYN|NATP URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132838 } # EOR GENR { RETE|ID 1 HUgn0000012 CHR 1 14 DID 1 LocusLink:12 MAP 1 14q32.1 NAM 1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 ORG 1 Homo sapiens SYM 1 SERPINA3 ID|HUgn0000012 DID|LocusLink:12 ORG|Homo sapiens RSQ|REFSEQ:NM_001085 RPA|REFPROT:NP_001076 DBA|XM:NM_001085 |NA:X00947 |NA:X68733 |NA:AF089747 |NA:AK093049 |NA:AK123091 |NA:BC003559 |NA:BC010530 |NA:BC013189 |NA:BC034554 |NA:J05176 |NA:K01500 |NA:M18906 |NA:none PAC|XP:NP_001076 SYM|SERPINA3 NAM|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 SYN|ACT |AACT FNC|alpha-1-antichymotrypsin, precursor |acute-phase response ; GO:0006953 REAB|The protein encoded by this gene is a plasma protease inhibitor and member of the |serine protease inhibitor class. Polymorphisms in this protein appear to be tissue |specific and influence protease targeting. Variation in this protein's sequence |have been implicated in Alzheimer's disease, and deficiency of this protein has |been associated with liver disease. Mutations have been identified in patients |with Parkinson disease and chronic obstructive pulmonary disease. CHR|14 PRD|antichymotrypsin |alpha-1-antichymotrypsin DBL|OMIM:107280 |SNP:12 MAP|14q32.1 PHP|Alpha-1-antichymotrypsin deficiency |Cerebrovascular disease, occlusive URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=12[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118955 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001085 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001085 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 ENZ|serine protease inhibitor activity ; GO:0004867 HG|species == Mouse; gene == Serpina3c; score == 437; expect == 5e-123; MEOW:MGgn0006809 (54%) |species == Mouse; gene == Serpina3n; score == 435; expect == 2e-122; MEOW:MGgn0011168 (57%) |species == rat; score == 410; expect == 7e-115; MEOW:ref|NP_113719.1| (56%) |species == Mouse; gene == Serpina3m; score == 409; expect == 1e-114; MEOW:MGgn0011169 (56%) |species == rat; score == 399; expect == 2e-111; MEOW:ref|XP_216782.2| (52%) |species == rat; score == 390; expect == 1e-108; MEOW:ref|NP_036789.1| (53%) |species == Mouse; gene == Serpina3k; score == 380; expect == 5e-106; MEOW:MGgn0011166 (53%) |species == rat; score == 367; expect == 6e-102; MEOW:ref|XP_234496.2| (57%) |species == rat; score == 332; expect == 2.5e-91; MEOW:ref|XP_234494.2| (45%) |species == Human; gene == SERPINA6; score == 296; expect == 1.8e-80; MEOW:HUgn0000866 (44%) |species == Human; gene == SERPINA7; score == 281; expect == 6.2e-76; MEOW:HUgn0006906 (41%) |species == Human; gene == SERPINA1; score == 280; expect == 1.1e-75; MEOW:HUgn0005265 (39%) |species == Human; gene == SERPINA5; score == 278; expect == 3.9e-75; MEOW:HUgn0005104 (45%) |species == Human; gene == SERPINA4; score == 275; expect == 3.6e-74; MEOW:HUgn0005267 (43%) |species == Human; gene == LOC256394; score == 261; expect == 4.6e-70; MEOW:HUgn0256394 (37%) |species == Human; gene == SERPINA11; score == 248; expect == 5.0e-66; MEOW:HUgn0327657 (41%) |species == Mosquito; score == 148; expect == 2.8e-36; MEOW:AGgn0015833 (31%) |species == Mosquito; gene == LOC23182; score == 140; expect == 1.0e-33; MEOW:AGgn0023182 (30%) |species == Fruitfly; gene == Spn1; score == 139; expect == 2.4e-33; MEOW:FBgn0028988 (31%) |species == Mosquito; gene == LOC22846; score == 136; expect == 1.9e-32; MEOW:AGgn0022846 (30%) |species == Mosquito; gene == LOC23448; score == 136; expect == 1.1e-32; MEOW:AGgn0023448 (30%) |species == Fruitfly; gene == Spn43Aa; score == 133; expect == 1.3e-31; MEOW:FBgn0024294 (30%) |species == Fruitfly; gene == Spn2; score == 133; expect == 9.9e-32; MEOW:FBgn0028987 (32%) |species == Worm; gene == srp-6; score == 131; expect == 4.4e-31; MEOW:CEgn0003919 (27%) } # EOR GENR { RETE|ID 1 HUgn0000013 CHR 1 3 DID 1 LocusLink:13 MAP 1 3q21.3-q25.2 NAM 1 arylacetamide deacetylase (esterase) ORG 1 Homo sapiens SYM 1 AADAC ID|HUgn0000013 DID|LocusLink:13 ORG|Homo sapiens RSQ|REFSEQ:NM_001086 RPA|REFPROT:NP_001077 DBA|XM:NM_001086 |NA:BC020706 |NA:BC032309 |NA:L32179 |NA:none PAC|XP:NP_001077 SYM|AADAC NAM|arylacetamide deacetylase (esterase) SYN|DAC FNC|arylacetamide deacetylase |metabolism ; GO:0008152 REAB|Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine |N-acetyltransferase, which catalyzes one of the initial biotransformation pathways |for arylamine and heterocyclic amine carcinogens CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=444003 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=13[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:392587 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001086 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001086 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=444003 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00623 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00040 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00563 DBL|UNIGENE:Hs.444003 |OMIM:600338 |SNP:13 ENZ|EC:3.1.1.- |hydrolase activity ; GO:0016787 MAP|3q21.3-q25.2 CEL|microsome ; GO:0005792 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Aadac; score == 575; expect == 1e-164; MEOW:MGgn0025424 (69%) |species == rat; score == 558; expect == 2e-159; MEOW:ref|NP_065413.1| (66%) |species == Human; gene == LOC344752; score == 406; expect == 1e-113; MEOW:HUgn0344752 (50%) } # EOR GENR { RETE|ID 1 HUgn0000014 CHR 1 2 DID 1 LocusLink:14 MAP 1 2q35 NAM 1 angio-associated, migratory cell protein ORG 1 Homo sapiens SYM 1 AAMP ID|HUgn0000014 DID|LocusLink:14 ORG|Homo sapiens RSQ|REFSEQ:NM_001087 RPA|REFPROT:NP_001078 DBA|XM:NM_001087 |NA:AK131047 |NA:BC008809 |NA:BC014122 |NA:BC020244 |NA:BC039866 |NA:M95627 |NA:none PAC|XP:NP_001078 SYM|AAMP NAM|angio-associated, migratory cell protein FNC|angio-associated, migratory cell protein |cell motility ; GO:0006928 REAB|The gene product is an immunoglobulin-type protein. It is found to be expressed strongly |in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma |cells found in lymphatics. The protein contains a heparin-binding domain and mediates |heparin-sensitive cell adhesion. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83347 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=14[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573993 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001087 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001087 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83347 DBL|UNIGENE:Hs.83347 |OMIM:603488 |SNP:14 MAP|2q35 ENZ|heparin binding ; GO:0008201 HG|species == rat; score == 778; expect == 0.0; MEOW:ref|XP_217441.2| (97%) |species == Mouse; gene == Aamp; score == 700; expect == 0.0; MEOW:MGgn0000008 (98%) |species == Mosquito; gene == LOC13761; score == 253; expect == 1.1e-67; MEOW:AGgn0013761 (40%) |species == Mosquito; score == 252; expect == 1.9e-67; MEOW:AGgn0011371 (40%) |species == Weed; gene == At1g71840; score == 222; expect == 3.3e-58; MEOW:ATgn0004027 (33%) |species == rice; score == 217; expect == 7.0e-57; MEOW:gnl|TIGR|8360.m04289 (31%) |species == Fruitfly; gene == CG5114; score == 188; expect == 7.3e-48; MEOW:FBgn0036460 (31%) } # EOR GENR { RETE|ID 1 HUgn0000015 CHR 1 17 DID 1 LocusLink:15 MAP 1 17q25 NAM 1 arylalkylamine N-acetyltransferase ORG 1 Homo sapiens SYM 1 AANAT ID|HUgn0000015 DID|LocusLink:15 ORG|Homo sapiens RSQ|REFSEQ:NM_001088 RPA|REFPROT:NP_001079 DBA|XM:NM_001088 |NA:U40391 |NA:U40347 |NA:none PAC|XP:NP_001079 SYM|AANAT NAM|arylalkylamine N-acetyltransferase SYN|SNAT |AA-NAT FNC|arylalkylamine N-acetyltransferase |circadian rhythm ; GO:0007623 REAB|Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. |It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm |in melatonin production in the vertebrate pineal gland. Melatonin is essential for |seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic |nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when |animals are exposed to light at night. This protein is 80% identical to sheep and |rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic |diseases such as altered behavior in sleep/wake cycle. CHR|17 PRD|Serotonin N-acetyltransferase |serotonin N-acetyltransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=431417 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=15[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:700076 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001088 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001088 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.section.500+OR+arev.section.520+OR+arev.section.524 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24366 DBL|UNIGENE:Hs.431417 |OMIM:600950 |SNP:15 ENZ|EC:2.3.1.87 |acyltransferase activity ; GO:0008415 |aralkylamine N-acetyltransferase activity ; GO:0004059 |transferase activity ; GO:0016740 MAP|17q25 HG|species == rat; score == 357; expect == 2.4e-99; MEOW:ref|NP_036950.1| (84%) |species == Mouse; gene == Aanat; score == 356; expect == 2.8e-99; MEOW:MGgn0000009 (86%) |species == Zfish; gene == aanat2; score == 238; expect == 1.3e-64; MEOW:ZFgn0000609 (60%) } # EOR GENR { RETE|ID 1 HUgn0000016 CHR 1 16 DID 1 LocusLink:16 MAP 1 16q22 NAM 1 alanyl-tRNA synthetase ORG 1 Homo sapiens SYM 1 AARS ID|HUgn0000016 DID|LocusLink:16 ORG|Homo sapiens RSQ|REFSEQ:NM_001605 RPA|REFPROT:NP_001596 DBA|XM:NM_001605 |NA:BC011451 |NA:D16969 |NA:D32050 |NA:none PAC|XP:NP_001596 SYM|AARS NAM|alanyl-tRNA synthetase FNC|alanyl-tRNA synthetase |alanyl-tRNA aminoacylation ; GO:0006419 |tRNA processing ; GO:0008033 |protein biosynthesis ; GO:0006412 REAB|The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of |the class II enzymes. Class II tRNA synthases evolved early in evolution and are |highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide |human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the |enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs |that contain the cognate trinucleotide anticodons. They consist of a catalytic |domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and |a second domain which interacts with the rest of the tRNA structure. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=315137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=16[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:595485 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001605 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001605 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=315137 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.315137 |OMIM:601065 |SNP:16 ENZ|EC:6.1.1.7 |tRNA binding ; GO:0000049 |nucleic acid binding ; GO:0003676 |ATP binding ; GO:0005524 |alanine-tRNA ligase activity ; GO:0004813 |ligase activity ; GO:0016874 MAP|16q22 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 1807; expect == 0.0; MEOW:ref|XP_214690.2| (93%) |species == Mosquito; gene == LOC13174; score == 1140; expect == 0.0; MEOW:AGgn0013174 (59%) |species == Worm; gene == ars-2; score == 1102; expect == 0.0; MEOW:CEgn0009587 (57%) |species == Yeast; gene == ALA1; score == 896; expect == 0.0; MEOW:SGgn0005862 (50%) |species == Weed; gene == At1g50200; score == 850; expect == 0.0; MEOW:ATgn0001757 (48%) |species == Human; gene == AARSL; score == 786; expect == 0.0; MEOW:HUgn0057505 (45%) |species == Mouse; gene == Aars; score == 656; expect == 0.0; MEOW:MGgn0042046 (96%) |species == ecoli; score == 541; expect == 1e-154; MEOW:ref|NP_417177.1| (38%) |species == Fruitfly; gene == Aats-ala-m; score == 489; expect == 4e-138; MEOW:FBgn0028962 (34%) |species == Fruitfly; gene == Aats-ala; score == 474; expect == 6e-134; MEOW:FBgn0027094 (48%) |species == rice; score == 459; expect == 1e-128; MEOW:gnl|TIGR|8354.m01280 (33%) |species == rice; score == 438; expect == 1e-122; MEOW:gnl|TIGR|8362.m00744 (62%) |species == rice; score == 406; expect == 1e-112; MEOW:gnl|TIGR|8362.m00745 (39%) } # EOR GENR { RETE|ID 1 HUgn0000017 CHR 1 19 DID 1 LocusLink:17 MAP 1 19q13 NAM 1 adeno-associated virus integration site 1 ORG 1 Homo sapiens SYM 1 AAVS1 ID|HUgn0000017 DID|LocusLink:17 ORG|Homo sapiens DBA|NA:S51329 SYM|AAVS1 NAM|adeno-associated virus integration site 1 SYN|AAV CHR|19 DBL|OMIM:102699 MAP|19q13 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125369 } # EOR GENR { RETE|ID 1 HUgn0000018 CHR 1 16 DID 1 LocusLink:18 MAP 1 16p13.3 NAM 1 4-aminobutyrate aminotransferase ORG 1 Homo sapiens SYM 1 ABAT ID|HUgn0000018 DID|LocusLink:18 ORG|Homo sapiens RSQ|REFSEQ:NM_000663 RPA|REFPROT:NP_000654 DBA|XM:NM_000663 |NA:BC013965 |NA:BC015628 |NA:BC031413 |NA:L32961 |NA:S75578 |NA:U80226 |NA:none PAC|XP:NP_000654 SYM|ABAT NAM|4-aminobutyrate aminotransferase SYN|GABAT FNC|4-aminobutyrate aminotransferase precursor |synaptic transmission ; GO:0007268 |neurotransmitter catabolism ; GO:0042135 |aminobutyrate metabolism ; GO:0009448 REAB|4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric |acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous |system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits |complexed to pyridoxal-5-phosphate. ABAT cDNA encodes a 500-amino acid protein that |is over 95% similar to the pig protein. GABA is estimated to be present in nearly |one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant |alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency |phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, |refractory seizures, and EEG abnormalities. CHR|16 PRD|GABA transferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1588 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=18[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:581658 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000663 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000663 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1588 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=18 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.1588 |OMIM:137150 |SNP:18 ENZ|EC:2.6.1.19 |4-aminobutyrate transaminase activity ; GO:0003867 |transferase activity ; GO:0016740 MAP|16p13.3 PHP|GABA-transaminase deficiency CEL|mitochondrial matrix ; GO:0005759 HG|species == rat; score == 936; expect == 0.0; MEOW:ref|NP_112265.1| (90%) |species == Mouse; gene == 9630038C02Rik; score == 756; expect == 0.0; MEOW:MGgn0041356 (77%) |species == Mosquito; gene == LOC21720; score == 528; expect == 2e-150; MEOW:AGgn0021720 (54%) |species == Fruitfly; gene == CG7433; score == 516; expect == 8e-147; MEOW:FBgn0036927 (53%) |species == Yeast; gene == UGA1; score == 367; expect == 2e-102; MEOW:SGgn0003251 (42%) } # EOR GENR { RETE|ID 1 HUgn0000019 CHR 1 9 DID 1 LocusLink:19 MAP 1 9q31.1 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 1 ORG 1 Homo sapiens SYM 1 ABCA1 ID|HUgn0000019 DID|LocusLink:19 ORG|Homo sapiens RSQ|REFSEQ:NM_005502 RPA|REFPROT:NP_005493 DBA|XM:NM_005502 |NA:AF165286 |NA:AF275948 |NA:AB055982 |NA:AF165281 |NA:AF285167 |NA:AJ012376 |NA:AK024328 |NA:none PAC|XP:NP_005493 SYM|ABCA1 NAM|ATP-binding cassette, sub-family A (ABC1), member 1 SYN|TGD |ABC1 |CERP |HDLDT1 FNC|ATP-binding cassette, sub-family A member 1 |phagocytosis, engulfment ; GO:0006911 |cholesterol metabolism ; GO:0008203 |small molecule transport ; GO:0006832 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. With cholesterol as its |substrate, this protein functions as a cholesteral efflux pump in the cellular lipid |removal pathway. Mutations in this gene have been associated with Tangier's disease |and familial high-density lipoprotein deficiency. CHR|9 PRD|ATP-binding cassette 1 |cholesterol efflux regulatory protein |high density lipoprotein deficiency, Tangier type, 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=147259 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=19[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:305294 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005502 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005502 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://www.ncbi.nlm.nih.gov/disease/tangier.html |http://www.humanabc.org DBL|UNIGENE:Hs.147259 |OMIM:600046 |SNP:19 MAP|9q31.1 PHP|Cerebral amyloid angiopathy |HDL deficiency, familial |Tangier disease ENZ|anion transporter activity ; GO:0008509 |sterol transporter activity ; GO:0015248 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |adenosinetriphosphatase activity ; GO:0004002 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca1; score == 4052; expect == 0.0; MEOW:MGgn0000015 (95%) |species == Human; gene == ABCA4; score == 2128; expect == 0.0; MEOW:HUgn0000024 (50%) |species == Human; gene == ABCA7; score == 1932; expect == 0.0; MEOW:HUgn0010347 (52%) |species == rat; score == 1900; expect == 0.0; MEOW:ref|XP_232954.2| (91%) |species == Mosquito; score == 491; expect == 2e-138; MEOW:AGgn0028715 (37%) |species == Mosquito; gene == LOC22300; score == 489; expect == 5e-138; MEOW:AGgn0022300 (34%) |species == Mosquito; gene == LOC9155; score == 485; expect == 8e-137; MEOW:AGgn0009155 (36%) |species == Fruitfly; gene == CG1718; score == 461; expect == 1e-129; MEOW:FBgn0031170 (35%) |species == Mosquito; score == 459; expect == 6e-129; MEOW:AGgn0027182 (36%) |species == Mosquito; gene == LOC13004; score == 429; expect == 5e-120; MEOW:AGgn0013004 (39%) |species == Mosquito; gene == LOC9427; score == 427; expect == 2e-119; MEOW:AGgn0009427 (35%) |species == Fruitfly; gene == CG6052; score == 399; expect == 1e-110; MEOW:FBgn0036747 (32%) |species == Weed; gene == At2g41700; score == 350; expect == 4.2e-96; MEOW:ATgn0007560 (32%) |species == Worm; gene == ced-7; score == 280; expect == 3.6e-75; MEOW:CEgn0000158 (30%) |species == rice; score == 231; expect == 1.2e-60; MEOW:gnl|TIGR|8351.m01020 (29%) |species == rice; score == 229; expect == 5.8e-60; MEOW:gnl|TIGR|8356.m02939 (27%) |species == rice; score == 217; expect == 2.2e-56; MEOW:gnl|TIGR|8354.m03592 (34%) |species == rice; score == 215; expect == 7.7e-56; MEOW:gnl|TIGR|8357.m01639 (28%) |species == rice; score == 213; expect == 4.1e-55; MEOW:gnl|TIGR|8356.m02942 (29%) |species == rice; score == 186; expect == 4.4e-47; MEOW:gnl|TIGR|8356.m02943 (32%) } # EOR GENR { RETE|ID 1 HUgn0000020 CHR 1 9 DID 1 LocusLink:20 MAP 1 9q34 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 2 ORG 1 Homo sapiens SYM 1 ABCA2 ID|HUgn0000020 DID|LocusLink:20 ORG|Homo sapiens RSQ|REFSEQ:NM_001606 RPA|REFPROT:NP_001597 DBA|XM:NM_001606 |NA:AF327658 |NA:AF327659 |NA:AF327660 |NA:AF327661 |NA:AF327662 |NA:AF327663 |NA:AF327664 |NA:AF327665 |NA:AF327666 |NA:AF327667 |NA:AF327668 |NA:AF327669 |NA:AF327670 |NA:AF327671 |NA:AF327672 |NA:AF327673 |NA:AF327674 |NA:AF327675 |NA:AF327676 |NA:AF327677 |NA:AF327678 |NA:AF327679 |NA:AF327680 |NA:AF327681 |NA:AF327682 |NA:AF327683 |NA:AF327684 |NA:AF327685 |NA:AF327686 |NA:AF327687 |NA:AF327688 |NA:AF327689 |NA:AF327690 |NA:AF327691 |NA:AF327692 |NA:AF327693 |NA:AF327694 |NA:AF327695 |NA:AF327696 |NA:AF327697 |NA:AF327698 |NA:AF327699 |NA:AF327700 |NA:AF327701 |NA:AF327702 |NA:AF327703 |NA:AF327704 |NA:AF327705 |NA:AB028985 |NA:AF178941 |NA:AF327657 |NA:AL162060 |NA:BC008755 |NA:BC029282 |NA:U18235 |NA:U18236 |NA:none PAC|XP:NP_001597 SYM|ABCA2 NAM|ATP-binding cassette, sub-family A (ABC1), member 2 SYN|ABC2 |KIAA1062 FNC|ATP-binding cassette, sub-family A, member 2 |small molecule transport ; GO:0006832 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. This protein is highly |expressed in brain tissue and may play a role in macrophage lipid metabolism and |neural development. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=421202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=20[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:305295 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001606 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001606 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=421202 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA1062 |http://www.humanabc.org DBL|UNIGENE:Hs.421202 |OMIM:600047 |SNP:20 MAP|9q34 ENZ|ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == rat; score == 4232; expect == 0.0; MEOW:ref|NP_077372.1| (92%) |species == Mouse; gene == Abca2; score == 4089; expect == 0.0; MEOW:MGgn0000017 (90%) |species == Human; gene == ABCA1; score == 1494; expect == 0.0; MEOW:HUgn0000019 (44%) |species == Mosquito; score == 491; expect == 2e-138; MEOW:AGgn0027182 (39%) |species == Mosquito; gene == LOC22300; score == 488; expect == 9e-138; MEOW:AGgn0022300 (38%) |species == Mosquito; score == 474; expect == 2e-133; MEOW:AGgn0028715 (38%) |species == Mosquito; gene == LOC9155; score == 470; expect == 3e-132; MEOW:AGgn0009155 (36%) |species == Mosquito; gene == LOC9427; score == 468; expect == 8e-132; MEOW:AGgn0009427 (36%) |species == Fruitfly; gene == CG1718; score == 463; expect == 3e-130; MEOW:FBgn0031170 (33%) |species == Mosquito; gene == LOC13004; score == 431; expect == 1e-120; MEOW:AGgn0013004 (38%) |species == Fruitfly; gene == CG6052; score == 406; expect == 6e-113; MEOW:FBgn0036747 (33%) |species == Weed; gene == At2g41700; score == 374; expect == 4e-103; MEOW:ATgn0007560 (35%) |species == Worm; gene == ced-7; score == 327; expect == 2.8e-89; MEOW:CEgn0000158 (32%) |species == rice; score == 227; expect == 2.2e-59; MEOW:gnl|TIGR|8351.m01020 (27%) |species == rice; score == 226; expect == 6.1e-59; MEOW:gnl|TIGR|8356.m02942 (29%) |species == rice; score == 225; expect == 6.4e-58; MEOW:gnl|TIGR|8357.m01639 (27%) |species == rice; score == 221; expect == 9.2e-57; MEOW:gnl|TIGR|8354.m03592 (28%) |species == rice; score == 219; expect == 2.7e-56; MEOW:gnl|TIGR|8356.m02939 (26%) |species == rice; score == 203; expect == 2.0e-51; MEOW:gnl|TIGR|8356.m02943 (26%) } # EOR GENR { RETE|ID 1 HUgn0000021 CHR 1 16 DID 1 LocusLink:21 MAP 1 16p13.3 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 3 ORG 1 Homo sapiens SYM 1 ABCA3 ID|HUgn0000021 DID|LocusLink:21 ORG|Homo sapiens RSQ|REFSEQ:NM_001089 RPA|REFPROT:NP_001080 DBA|XM:NM_001089 |NA:AC005212 |NA:AC007162 |NA:AB070929 |NA:U78735 |NA:X97187 |NA:none PAC|XP:NP_001080 SYM|ABCA3 NAM|ATP-binding cassette, sub-family A (ABC1), member 3 SYN|ABC3 |ABC-C |LBM180 |EST111653 FNC|ATP-binding cassette, sub-family A member 3 |drug resistance ; GO:0009315 |transport ; GO:0006810 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. The full transporter encoded |by this gene may be involved in development of resistance to xenobiotics and engulfment |during programmed cell death. CHR|16 PRD|ABC transporter 3 |ATP-binding cassette 3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=26630 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=21[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3770735 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001089 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001089 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.155 |http://www.humanabc.org DBL|UNIGENE:Hs.26630 |OMIM:601615 |SNP:21 MAP|16p13.3 ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca3; score == 2888; expect == 0.0; MEOW:MGgn0013319 (87%) |species == rat; score == 2851; expect == 0.0; MEOW:ref|XP_220219.2| (85%) |species == Mosquito; gene == LOC9155; score == 1125; expect == 0.0; MEOW:AGgn0009155 (38%) |species == Mosquito; score == 1101; expect == 0.0; MEOW:AGgn0028715 (37%) |species == Mosquito; gene == LOC22300; score == 1087; expect == 0.0; MEOW:AGgn0022300 (37%) |species == Fruitfly; gene == CG1718; score == 1062; expect == 0.0; MEOW:FBgn0031170 (37%) |species == Mosquito; score == 1048; expect == 0.0; MEOW:AGgn0027182 (36%) |species == Mosquito; gene == LOC9427; score == 1005; expect == 0.0; MEOW:AGgn0009427 (36%) |species == Fruitfly; gene == CG6052; score == 865; expect == 0.0; MEOW:FBgn0036747 (32%) |species == Weed; gene == At2g41700; score == 682; expect == 0.0; MEOW:ATgn0007560 (31%) |species == Worm; gene == ced-7; score == 535; expect == 7e-152; MEOW:CEgn0000158 (26%) |species == Human; gene == ABCA2; score == 511; expect == 3e-144; MEOW:HUgn0000020 (38%) |species == Human; gene == ABCA1; score == 503; expect == 3e-142; MEOW:HUgn0000019 (39%) |species == Human; gene == ABCA4; score == 490; expect == 3e-138; MEOW:HUgn0000024 (38%) |species == Human; gene == ABCA7; score == 462; expect == 7e-130; MEOW:HUgn0010347 (36%) |species == Human; gene == ABCA12; score == 456; expect == 7e-128; MEOW:HUgn0026154 (33%) |species == rice; score == 251; expect == 1.1e-66; MEOW:gnl|TIGR|8351.m01020 (30%) |species == rice; score == 240; expect == 4.3e-63; MEOW:gnl|TIGR|8356.m02939 (29%) |species == rice; score == 235; expect == 3.3e-61; MEOW:gnl|TIGR|8354.m03592 (31%) |species == rice; score == 233; expect == 3.6e-61; MEOW:gnl|TIGR|8357.m01639 (29%) |species == rice; score == 231; expect == 8.0e-60; MEOW:gnl|TIGR|8356.m02942 (30%) |species == rice; score == 217; expect == 1.2e-55; MEOW:gnl|TIGR|8356.m02943 (30%) |species == ecoli; score == 136; expect == 1.0e-32; MEOW:ref|NP_414669.1| (36%) |species == ecoli; score == 132; expect == 1.5e-31; MEOW:ref|NP_415315.1| (34%) |species == ecoli; score == 132; expect == 1.5e-31; MEOW:ref|NP_417943.1| (36%) } # EOR GENR { RETE|ID 1 HUgn0000022 CHR 1 X DID 1 LocusLink:22 MAP 1 Xq12-q13 NAM 1 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ORG 1 Homo sapiens SYM 1 ABCB7 ID|HUgn0000022 DID|LocusLink:22 ORG|Homo sapiens RSQ|REFSEQ:NM_004299 RPA|REFPROT:NP_004290 DBA|XM:NM_004299 |NA:AB005289 |NA:AF038950 |NA:AF078777 |NA:AF133659 |NA:AK001418 |NA:BC006323 |NA:BT009918 |NA:BX537833 |NA:none PAC|XP:NP_004290 SYM|ABCB7 NAM|ATP-binding cassette, sub-family B (MDR/TAP), member 7 SYN|ABC7 |ASAT |Atm1p |EST140535 FNC|ATP-binding cassette, sub-family B, member 7 |transport ; GO:0006810 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intra-cellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug |resistance as well as antigen presentation. This gene encodes a half-transporter |involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur |cluster precursors as its substrates, this protein may play a role in metal homeostasis. | Mutations in this gene have been implicated in X-linked sideroblastic anemia with |ataxia. CHR|X PRD|ATP-binding cassette 7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370480 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=22[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:7016795 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004299 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004299 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.152+OR+mono_001.section.179+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370480 |http://www.geneclinics.org/query?mim=300135 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24389 |http://www.humanabc.org DBL|UNIGENE:Hs.370480 |OMIM:300135 |SNP:22 MAP|Xq12-q13 PHP|Anemia, sideroblastic, with ataxia ENZ|heme transporter activity ; GO:0015232 |nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 CEL|mitochondrion ; GO:0005739 |integral to membrane ; GO:0016021 |mitochondrial inner membrane ; GO:0005743 HG|species == rat; score == 1237; expect == 0.0; MEOW:ref|XP_217569.2| (88%) |species == Mosquito; gene == LOC13018; score == 676; expect == 0.0; MEOW:AGgn0013018 (59%) |species == Fruitfly; gene == CG7955; score == 656; expect == 0.0; MEOW:FBgn0035244 (58%) |species == Worm; gene == Y74C10AM.1; score == 622; expect == 2e-178; MEOW:CEgn0028856 (56%) |species == Weed; gene == At5g58270; score == 597; expect == 1e-170; MEOW:ATgn0024285 (54%) |species == Weed; gene == At4g28630; score == 581; expect == 5e-166; MEOW:ATgn0019383 (52%) |species == Weed; gene == At4g28620; score == 574; expect == 5e-164; MEOW:ATgn0019382 (50%) |species == Yeast; gene == ATM1; score == 552; expect == 3e-157; MEOW:SGgn0004916 (48%) |species == rice; score == 498; expect == 1e-140; MEOW:gnl|TIGR|8354.m00272 (57%) |species == Mouse; gene == Abcb6; score == 437; expect == 2e-122; MEOW:MGgn0016464 (41%) |species == Human; gene == ABCB6; score == 433; expect == 2e-121; MEOW:HUgn0010058 (41%) |species == ecoli; score == 232; expect == 7.7e-62; MEOW:ref|NP_415434.1| (32%) |species == Zfish; gene == abcc4; score == 156; expect == 3.1e-39; MEOW:ZFgn0013883 (29%) } # EOR GENR { RETE|ID 1 HUgn0000023 CHR 1 6 DID 1 LocusLink:23 MAP 1 6p21.33 NAM 1 ATP-binding cassette, sub-family F (GCN20), member 1 ORG 1 Homo sapiens SYM 1 ABCF1 ID|HUgn0000023 DID|LocusLink:23 ORG|Homo sapiens RSQ|REFSEQ:NM_001090 RPA|REFPROT:NP_001081 DBA|XM:NM_001090 |NA:AB023052 |NA:AC006138 |NA:AF027302 |NA:AL832430 |NA:BC016772 |NA:BC034488 PAC|XP:NP_001081 SYM|ABCF1 NAM|ATP-binding cassette, sub-family F (GCN20), member 1 SYN|ABC27 |ABC50 |EST123147 FNC|ATP-binding cassette, sub-family F, member 1 |protein biosynthesis ; GO:0006412 |inflammatory response ; GO:0006954 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. |Unlike other members of the superfamily, this protein lacks the transmembrane domains |which are characteristic of most ABC transporters. This protein may be regulated |by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis |and the inflammation process. CHR|6 PRD|ATP-binding cassette 50 |ATP-binding cassette 50 (TNF-alpha stimulated) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=23[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836817 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001090 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001090 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.211+OR+mono_001.table.145+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=9573 |http://www.humanabc.org DBL|UNIGENE:Hs.9573 |OMIM:603429 |SNP:23 MAP|6p21.33 ENZ|translation factor activity, nucleic acid binding ; GO:0008135 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 HG|species == chimp; score == 1038; expect == 0.0; MEOW:sp|BAC78179|BAC78179 (99%) |species == rat; score == 995; expect == 0.0; MEOW:ref|XP_342084.1| (86%) |species == Mosquito; gene == LOC16545; score == 700; expect == 0.0; MEOW:AGgn0016545 (66%) |species == Worm; gene == F18E2.2; score == 654; expect == 0.0; MEOW:CEgn0008740 (61%) |species == Mosquito; score == 624; expect == 5e-179; MEOW:AGgn0025805 (64%) |species == Weed; gene == At3g54540; score == 495; expect == 3e-140; MEOW:ATgn0028529 (43%) |species == Fruitfly; gene == CG1703; score == 493; expect == 1e-139; MEOW:FBgn0030321 (67%) |species == rice; score == 444; expect == 6e-125; MEOW:gnl|TIGR|8360.m02979 (49%) |species == Fruitfly; gene == CG9330; score == 440; expect == 1e-123; MEOW:FBgn0036888 (46%) |species == Weed; gene == At1g64550; score == 424; expect == 1e-118; MEOW:ATgn0003295 (39%) |species == rice; score == 408; expect == 5e-114; MEOW:gnl|TIGR|8356.m04386 (42%) |species == Weed; gene == At5g60790; score == 407; expect == 1e-113; MEOW:ATgn0021021 (42%) |species == rice; score == 407; expect == 7e-114; MEOW:gnl|TIGR|8357.m03355 (43%) |species == Yeast; gene == YER036C; score == 394; expect == 1e-109; MEOW:SGgn0000838 (39%) |species == Mouse; gene == Abcf3; score == 393; expect == 2e-109; MEOW:MGgn0013333 (42%) |species == Human; gene == ABCF3; score == 373; expect == 2e-103; MEOW:HUgn0055324 (42%) |species == rice; score == 370; expect == 2e-102; MEOW:gnl|TIGR|8352.m05260 (41%) |species == Human; gene == ABCF2; score == 367; expect == 1e-101; MEOW:HUgn0010061 (38%) |species == Yeast; gene == GCN20; score == 355; expect == 4.0e-98; MEOW:SGgn0001905 (36%) |species == Mouse; gene == Abcf2; score == 354; expect == 9.5e-98; MEOW:MGgn0013332 (37%) |species == ecoli; score == 312; expect == 5.5e-85; MEOW:ref|NP_417811.1| (36%) |species == ecoli; score == 259; expect == 3.4e-69; MEOW:ref|NP_415341.1| (31%) } # EOR GENR { RETE|ID 1 HUgn0000024 CHR 1 1 DID 1 LocusLink:24 MAP 1 1p22.1-p21 NAM 1 ATP-binding cassette, sub-family A (ABC1), member 4 ORG 1 Homo sapiens SYM 1 ABCA4 ID|HUgn0000024 DID|LocusLink:24 ORG|Homo sapiens RSQ|REFSEQ:NM_000350 RPA|REFPROT:NP_000341 DBA|XM:NM_000350 |NA:Y15635 |NA:AF000148 |NA:AF001945 |NA:U88667 |NA:none PAC|XP:NP_000341 SYM|ABCA4 NAM|ATP-binding cassette, sub-family A (ABC1), member 4 SYN|FFM |RMP |ABCR |RP19 |STGD |ABC10 |STGD1 FNC|ATP-binding cassette, sub-family A member 4 |phototransduction, visible light ; GO:0007603 |transport ; GO:0006810 |vision ; GO:0007601 REAB|The membrane-associated protein encoded by this gene is a member of the superfamily |of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules |across extra- and intracellular membranes. ABC genes are divided into seven distinct |subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member |of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC |subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific |ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively |in retina photoreceptor cells, indicating the gene product mediates transport of |an essental molecule across the photoreceptor cell membrane. Mutations in this gene |are found in patients diagnosed with Stargardt disease and are associated with retinitis |pigmentosa-19 and macular degeneration age-related 2. CHR|1 PRD|rim protein |ATP binding cassette transporter |ATP-binding transporter, retina-specific URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416707 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=24[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:370748 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000350 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000350 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.144+OR+mono_001.section.161+OR+mono_001.section.166+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://www.geneclinics.org/query?mim=601691 |http://www.humanabc.org |http://www.retina-international.com/sci-news/abcrmut.htm DBL|UNIGENE:Hs.416707 |OMIM:601691 |SNP:24 |UWCM:370748.html MAP|1p22.1-p21 PHP|Cone-rod dystrophy 3 |Fundus flavimaculatus |Macular dystrophy, age-related, 2 |Retinitis pigmentosa-19 |Stargardt disease-1 ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == Mouse; gene == Abca4; score == 4012; expect == 0.0; MEOW:MGgn0000016 (88%) |species == rat; score == 2481; expect == 0.0; MEOW:ref|XP_241525.2| (80%) |species == Human; gene == ABCA1; score == 2128; expect == 0.0; MEOW:HUgn0000019 (50%) |species == Mosquito; score == 472; expect == 7e-133; MEOW:AGgn0028715 (35%) |species == Mosquito; gene == LOC9155; score == 467; expect == 2e-131; MEOW:AGgn0009155 (34%) |species == Mosquito; score == 431; expect == 2e-120; MEOW:AGgn0027182 (33%) |species == Fruitfly; gene == CG1718; score == 422; expect == 5e-118; MEOW:FBgn0031170 (37%) |species == Mosquito; gene == LOC22300; score == 418; expect == 1e-116; MEOW:AGgn0022300 (37%) |species == Mosquito; gene == LOC9427; score == 414; expect == 2e-115; MEOW:AGgn0009427 (31%) |species == Mosquito; gene == LOC13004; score == 403; expect == 3e-112; MEOW:AGgn0013004 (38%) |species == Fruitfly; gene == CG6052; score == 368; expect == 2e-101; MEOW:FBgn0036747 (31%) |species == Weed; gene == At2g41700; score == 340; expect == 4.5e-93; MEOW:ATgn0007560 (36%) |species == Worm; gene == ced-7; score == 295; expect == 1.1e-79; MEOW:CEgn0000158 (30%) |species == rice; score == 228; expect == 9.2e-59; MEOW:gnl|TIGR|8356.m02942 (32%) |species == rice; score == 220; expect == 1.9e-56; MEOW:gnl|TIGR|8357.m01639 (28%) |species == rice; score == 208; expect == 1.0e-53; MEOW:gnl|TIGR|8351.m01020 (34%) |species == rice; score == 202; expect == 4.1e-51; MEOW:gnl|TIGR|8354.m03592 (35%) |species == rice; score == 197; expect == 1.7e-49; MEOW:gnl|TIGR|8356.m02943 (36%) |species == rice; score == 188; expect == 8.0e-47; MEOW:gnl|TIGR|8356.m02939 (35%) |species == ecoli; score == 133; expect == 3.2e-31; MEOW:ref|NP_415315.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0000025 CHR 1 9 DID 1 LocusLink:25 MAP 1 9q34.1 NAM 1 v-abl Abelson murine leukemia viral oncogene homolog 1 ORG 1 Homo sapiens SYM 1 ABL1 ID|HUgn0000025 DID|LocusLink:25 ORG|Homo sapiens RSQ|REFSEQ:NM_005157 |REFSEQ:NM_007313 RPA|REFPROT:NP_005148 |REFPROT:NP_009297 DBA|XM:NM_005157 |XM:NM_007313 |NA:K00009 |NA:M13099 |NA:U07563 |NA:M14752 |NA:M14753 |NA:M30833 |NA:X16416 |NA:none PAC|XP:NP_005148 |XP:NP_009297 SYM|ABL1 NAM|v-abl Abelson murine leukemia viral oncogene homolog 1 SYN|ABL |JTK7 |p150 |c-ABL |v-abl FNC|v-abl Abelson murine leukemia viral oncogene homolog 1 isoform a |v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b |S-specific transcription in mitotic cell cycle ; GO:0000115 |DNA damage response, signal transduction resulting in induction of apoptosis ; GO:0008630 |mismatch repair ; GO:0006298 |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |regulation of transcription, DNA-dependent ; GO:0006355 |intracellular signaling cascade ; GO:0007242 |regulation of cell cycle ; GO:0000074 REAB|The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase |that has been implicated in processes of cell differentiation, cell division, cell |adhesion, and stress response. Activity of c-Abl protein is negatively regulated |by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. |The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) |and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding |activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated |phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed |as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced |to the common exons 2-11. CHR|9 PRD|proto-oncogene tyrosine-protein kinase ABL1 |Abelson murine leukemia viral (v-abl) oncogene homolog 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446504 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=25[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119640 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005157 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005157 |http://www.ncbi.nlm.nih.gov/disease/cml.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24413 DBL|UNIGENE:Hs.446504 |OMIM:189980 |SNP:25 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |DNA binding ; GO:0003677 |transferase activity ; GO:0016740 MAP|9q34.1 PHP|Leukemia, Philadelphia chromosome-positive, resistant to imatinib CEL|nucleus ; GO:0005634 HG|species == rat; score == 1534; expect == 0.0; MEOW:ref|XP_231137.2| (76%) |species == rat; score == 1534; expect == 0.0; MEOW:ref|XP_347218.1| (76%) |species == Human; gene == ABL2; score == 932; expect == 0.0; MEOW:HUgn0000027 (66%) |species == Mosquito; gene == LOC2451; score == 739; expect == 0.0; MEOW:AGgn0002451 (70%) |species == Fruitfly; gene == Abl; score == 733; expect == 0.0; MEOW:FBgn0000017 (74%) |species == Worm; gene == abl-1; score == 565; expect == 6e-161; MEOW:CEgn0000002 (55%) |species == Mouse; gene == Frk; score == 380; expect == 1e-105; MEOW:MGgn0004424 (42%) |species == Mouse; gene == Btk; score == 339; expect == 3.3e-93; MEOW:MGgn0000908 (42%) |species == Mouse; gene == Yes; score == 335; expect == 4.4e-92; MEOW:MGgn0013129 (44%) |species == Mouse; gene == Fyn; score == 333; expect == 2.2e-91; MEOW:MGgn0004482 (43%) |species == Mouse; gene == Fgr; score == 332; expect == 3.7e-91; MEOW:MGgn0004295 (42%) |species == Mouse; gene == Lck; score == 324; expect == 1.3e-88; MEOW:MGgn0007008 (42%) |species == Mouse; gene == Hck; score == 322; expect == 5.0e-88; MEOW:MGgn0005314 (42%) |species == Mouse; gene == Src; score == 322; expect == 5.0e-88; MEOW:MGgn0011237 (42%) |species == Mouse; gene == Lyn; score == 317; expect == 2.1e-86; MEOW:MGgn0007294 (41%) |species == Mouse; gene == Blk; score == 315; expect == 8.0e-86; MEOW:MGgn0000816 (43%) |species == Mouse; gene == Csk; score == 306; expect == 2.0e-83; MEOW:MGgn0001705 (39%) |species == Mouse; gene == Tec; score == 306; expect == 2.4e-83; MEOW:MGgn0012151 (37%) |species == Zfish; gene == itk; score == 284; expect == 1.2e-77; MEOW:ZFgn0000238 (37%) |species == chimp; score == 194; expect == 2.5e-49; MEOW:sp|BAC78172|BAC78172 (37%) |species == Weed; gene == At4g35780; score == 179; expect == 2.9e-45; MEOW:ATgn0017130 (35%) |species == Weed; gene == At2g17700; score == 174; expect == 1.1e-43; MEOW:ATgn0028393 (35%) |species == Weed; gene == At4g38470; score == 168; expect == 8.7e-42; MEOW:ATgn0020261 (36%) |species == Weed; gene == At1g62400; score == 161; expect == 5.6e-40; MEOW:ATgn0006564 (33%) |species == Weed; gene == At5g03730; score == 160; expect == 2.7e-39; MEOW:ATgn0024018 (36%) |species == rice; score == 159; expect == 2.5e-38; MEOW:gnl|TIGR|8357.m03093 (35%) |species == rice; score == 158; expect == 8.4e-39; MEOW:gnl|TIGR|8352.m05524 (33%) |species == Weed; gene == At5g11850; score == 155; expect == 9.5e-38; MEOW:ATgn0025217 (35%) |species == Weed; gene == At3g58640; score == 151; expect == 1.2e-36; MEOW:ATgn0012164 (31%) |species == Weed; gene == At2g31010; score == 147; expect == 5.6e-36; MEOW:ATgn0008444 (31%) |species == rice; score == 144; expect == 6.4e-34; MEOW:gnl|TIGR|8355.m02702 (35%) |species == rice; score == 136; expect == 5.1e-32; MEOW:gnl|TIGR|8351.m03037 (38%) |species == rice; score == 136; expect == 1.3e-31; MEOW:gnl|TIGR|8359.m00564 (32%) |species == rice; score == 136; expect == 9.5e-32; MEOW:gnl|TIGR|8360.m03494 (28%) |species == rice; score == 135; expect == 3.9e-31; MEOW:gnl|TIGR|8351.m04858 (33%) |species == rice; score == 134; expect == 6.6e-31; MEOW:gnl|TIGR|8354.m04232 (28%) } # EOR GENR { RETE|ID 1 HUgn0000026 CHR 1 7 DID 1 LocusLink:26 MAP 1 7q34-q36 NAM 1 amiloride binding protein 1 (amine oxidase (copper-containing)) ORG 1 Homo sapiens SYM 1 ABP1 ID|HUgn0000026 DID|LocusLink:26 ORG|Homo sapiens RSQ|REFSEQ:NM_001091 RPA|REFPROT:NP_001082 DBA|XM:NM_001091 |XM:NM_001091 |NA:X78212 |NA:AK092514 |NA:BC014093 |NA:BX648159 |NA:M55602 |NA:U11862 |NA:U11863 |NA:none PAC|XP:NP_001082 |XP:NP_001082 SYM|ABP1 NAM|amiloride binding protein 1 (amine oxidase (copper-containing)) SYN|DAO |AOC1 FNC|amiloride binding protein 1 precursor |metabolism ; GO:0008152 REAB|This gene encodes a membrane glycoprotein that binds amiloride, a diuretic that acts |by closing epithelial sodium ion channels. Experimental evidence indicates, however, |that the formation of an amiloride sensitive, sodium channel requires complex formation |with additional proteins. Although an association was proposed between this gene |and cystic fibrosis, a disorder involving sodium and water imbalance in the lungs, |genetic evidence showed that it was not involved in producing that disorder. CHR|7 PRD|diamine oxidase |Amiloride-binding protein-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437420 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=26[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127105 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001091 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001091 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437420 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00960 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.437420 |OMIM:104610 |SNP:26 ENZ|EC:1.4.3.6 |amine oxidase (copper-containing) activity ; GO:0008122 |copper ion binding ; GO:0005507 |heparin binding ; GO:0008201 |drug binding ; GO:0008144 |oxidoreductase activity ; GO:0016491 MAP|7q34-q36 CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1285; expect == 0.0; MEOW:ref|NP_075224.1| (81%) |species == Mouse; gene == Abp1; score == 1266; expect == 0.0; MEOW:MGgn0016961 (80%) |species == Human; gene == AOC3; score == 530; expect == 2e-150; MEOW:HUgn0008639 (39%) |species == Human; gene == AOC2; score == 506; expect == 2e-143; MEOW:HUgn0000314 (40%) |species == ecoli; score == 142; expect == 6.1e-35; MEOW:ref|NP_415904.1| (28%) |species == Weed; gene == At1g31670; score == 141; expect == 1.5e-33; MEOW:ATgn0000598 (27%) |species == Weed; gene == At4g14940; score == 141; expect == 1.7e-33; MEOW:ATgn0019564 (28%) |species == Weed; gene == At1g31710; score == 138; expect == 1.0e-32; MEOW:ATgn0000604 (28%) |species == Weed; gene == At4g12290; score == 137; expect == 2.1e-32; MEOW:ATgn0020358 (28%) |species == Weed; gene == At1g31690; score == 134; expect == 1.2e-31; MEOW:ATgn0000602 (27%) } # EOR GENR { RETE|ID 1 HUgn0000027 CHR 1 1 DID 1 LocusLink:27 MAP 1 1q24-q25 NAM 1 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) ORG 1 Homo sapiens SYM 1 ABL2 ID|HUgn0000027 DID|LocusLink:27 ORG|Homo sapiens RSQ|REFSEQ:NM_005158 |REFSEQ:NM_007314 RPA|REFPROT:NP_005149 |REFPROT:NP_009298 DBA|XM:NM_005158 |XM:NM_007314 |NA:BX538317 |NA:M35296 |NA:none PAC|XP:NP_005149 |XP:NP_009298 SYM|ABL2 NAM|v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) SYN|ARG |ABLL FNC|v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a |v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b |cell growth and/or maintenance ; GO:0008151 |protein amino acid phosphorylation ; GO:0006468 |intracellular signaling cascade ; GO:0007242 REAB|ABL2 is a cytoplasmic tyrosine kinase which is closely related to but distinct from |ABL1. The similarity of the proteins includes the tyrosine kinase domains and extends |amino-terminal to include the SH2 and SH3 domains. ABL2 is expressed in both normal |and tumor cells. The ABL2 gene product is expressed as two variants bearing different |amino termini, both approximately 12-kb in length. CHR|1 PRD|Abelson-related gene |Abelson murine leukemia viral (v-abl) oncogene homolog 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159472 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=27[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119641 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007314 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007314 DBL|UNIGENE:Hs.159472 |OMIM:164690 |SNP:27 ENZ|EC:2.7.1.112 |protein-tyrosine kinase activity ; GO:0004713 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|1q24-q25 PHP|Leukemia, acute myeloid, with eosinophilia CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ABL1; score == 932; expect == 0.0; MEOW:HUgn0000025 (66%) |species == rat; score == 812; expect == 0.0; MEOW:ref|XP_231137.2| (45%) |species == rat; score == 812; expect == 0.0; MEOW:ref|XP_347218.1| (45%) |species == Mosquito; gene == LOC2451; score == 714; expect == 0.0; MEOW:AGgn0002451 (67%) |species == Fruitfly; gene == Abl; score == 705; expect == 0.0; MEOW:FBgn0000017 (72%) |species == Worm; gene == abl-1; score == 559; expect == 3e-159; MEOW:CEgn0000002 (59%) |species == Mouse; gene == Fyn; score == 367; expect == 1e-101; MEOW:MGgn0004482 (43%) |species == Mouse; gene == Fgr; score == 361; expect == 5e-100; MEOW:MGgn0004295 (41%) |species == Mouse; gene == Frk; score == 357; expect == 1.4e-98; MEOW:MGgn0004424 (44%) |species == Mouse; gene == Blk; score == 352; expect == 3.6e-97; MEOW:MGgn0000816 (43%) |species == Mouse; gene == Yes; score == 349; expect == 3.0e-96; MEOW:MGgn0013129 (44%) |species == Mouse; gene == Src; score == 337; expect == 1.2e-92; MEOW:MGgn0011237 (42%) |species == Mouse; gene == Btk; score == 334; expect == 1.4e-91; MEOW:MGgn0000908 (42%) |species == Mouse; gene == Lck; score == 333; expect == 2.2e-91; MEOW:MGgn0007008 (43%) |species == Mouse; gene == Hck; score == 332; expect == 3.8e-91; MEOW:MGgn0005314 (44%) |species == Mouse; gene == Lyn; score == 326; expect == 3.5e-89; MEOW:MGgn0007294 (41%) |species == Mouse; gene == Csk; score == 318; expect == 3.0e-87; MEOW:MGgn0001705 (40%) |species == Mouse; gene == Itk; score == 309; expect == 3.5e-84; MEOW:MGgn0006607 (37%) |species == Mouse; gene == Tec; score == 302; expect == 3.5e-82; MEOW:MGgn0012151 (39%) |species == Zfish; gene == itk; score == 288; expect == 8.1e-79; MEOW:ZFgn0000238 (39%) |species == chimp; score == 177; expect == 6.9e-46; MEOW:sp|BAC78172|BAC78172 (38%) |species == Weed; gene == At4g35780; score == 175; expect == 7.0e-44; MEOW:ATgn0017130 (34%) |species == rice; score == 175; expect == 7.5e-44; MEOW:gnl|TIGR|8357.m03093 (36%) |species == Weed; gene == At4g38470; score == 172; expect == 3.5e-43; MEOW:ATgn0020261 (37%) |species == Weed; gene == At5g03730; score == 162; expect == 5.5e-40; MEOW:ATgn0024018 (38%) |species == rice; score == 162; expect == 3.4e-40; MEOW:gnl|TIGR|8352.m05524 (35%) |species == Weed; gene == At1g62400; score == 155; expect == 3.1e-38; MEOW:ATgn0006564 (31%) |species == Weed; gene == At2g17700; score == 154; expect == 2.8e-37; MEOW:ATgn0028393 (34%) |species == rice; score == 151; expect == 1.2e-36; MEOW:gnl|TIGR|8359.m00564 (30%) |species == Weed; gene == At3g58640; score == 149; expect == 4.7e-36; MEOW:ATgn0012164 (32%) |species == rice; score == 142; expect == 5.6e-34; MEOW:gnl|TIGR|8352.m04835 (35%) } # EOR GENR { RETE|ID 1 HUgn0000028 CHR 1 9 DID 1 LocusLink:28 MAP 1 9q34.1-q34.2 NAM 1 ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) ORG 1 Homo sapiens SYM 1 ABO ID|HUgn0000028 DID|LocusLink:28 ORG|Homo sapiens RSQ|REFSEQ:NM_020469 RPA|REFPROT:NP_065202 DBA|XM:NM_020469 |NA:AC000397 |NA:AF134420 |NA:AF134422 |NA:AF170888 |NA:U22302 |NA:X84746 |NA:AF134412 |NA:AF134413 |NA:AF134414 |NA:AF134415 |NA:AF134416 |NA:J05175 |NA:U15197 |NA:none PAC|XP:NP_065202 SYM|ABO NAM|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) FNC|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) CHR|9 PRD|GTB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113271 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=28[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118956 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020469 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020469 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00601 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00602 |http://www.bioc.aecom.yu.edu/bgmut/abo.htm DBL|UNIGENE:Hs.113271 |OMIM:110300 |SNP:28 ENZ|EC:2.4.1.37 |EC:2.4.1.40 MAP|9q34.1-q34.2 PHP|Blood group, ABO system HG|species == chimp; score == 666; expect == 0.0; MEOW:sp|Q9TUD9|Q9TUD9 (97%) |species == chimp; score == 624; expect == 0.0; MEOW:sp|Q9TTN2|Q9TTN2 (98%) |species == chimp; score == 588; expect == 1e-168; MEOW:sp|O97551|O97551 (96%) |species == chimp; score == 558; expect == 1e-159; MEOW:sp|O97549|O97549 (98%) |species == rat; score == 496; expect == 1e-140; MEOW:ref|XP_231041.2| (74%) |species == rat; score == 484; expect == 4e-137; MEOW:ref|XP_215986.1| (80%) |species == rat; score == 483; expect == 6e-137; MEOW:ref|XP_342395.1| (79%) |species == Mouse; gene == Abo; score == 450; expect == 3e-127; MEOW:MGgn0028359 (70%) |species == Human; gene == FS; score == 284; expect == 4.4e-77; MEOW:HUgn0026301 (49%) |species == Human; gene == LOC342885; score == 228; expect == 2.5e-60; MEOW:HUgn0342885 (59%) } # EOR GENR { RETE|ID 1 HUgn0000029 CHR 1 17 DID 1 LocusLink:29 MAP 1 17p13.3 NAM 1 active BCR-related gene ORG 1 Homo sapiens SYM 1 ABR ID|HUgn0000029 DID|LocusLink:29 ORG|Homo sapiens RSQ|REFSEQ:NM_001092 |REFSEQ:NM_021962 RPA|REFPROT:NP_001083 |REFPROT:NP_068781 DBA|XM:NM_001092 |XM:NM_021962 |NA:L19704 |NA:L19705 |NA:AK124547 |NA:AK126882 |NA:BC036807 |NA:U01147 |NA:none PAC|XP:NP_001083 |XP:NP_068781 SYM|ABR NAM|active BCR-related gene SYN|MDB FNC|active breakpoint cluster region-related protein isoform a |active breakpoint cluster region-related protein isoform b |small GTPase mediated signal transduction ; GO:0007264 REAB|Active breakpoint cluster region-related gene has homology with the breakpoint cluster |region gene located on chromosome 22. BCR is involved in reciprocal translocations |with the ABL oncogene on chromosome 9 in Philadelphia chromosome-positive chronic |myelogenous leukemia. These proteins might interact simultaneously and/or sequentially |with members of the Rho family to regulate and coordinate cellular signaling. Active |breakpoint cluster region-related protein may be associated with medulloblastoma. |This gene has two different alternatively spliced transcript variants. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=434004 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=29[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119642 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021962 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021962 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=434004 DBL|UNIGENE:Hs.434004 |OMIM:600365 |SNP:29 MAP|17p13.3 ENZ|GTPase activator activity ; GO:0005096 |guanyl-nucleotide exchange factor activity ; GO:0005085 HG|species == rat; score == 1553; expect == 0.0; MEOW:ref|XP_220717.2| (96%) |species == Human; gene == BCR; score == 1102; expect == 0.0; MEOW:HUgn0000613 (69%) |species == Mosquito; score == 310; expect == 1.2e-84; MEOW:AGgn0017783 (36%) |species == Fruitfly; gene == RhoGAP1A; score == 269; expect == 2.4e-72; MEOW:FBgn0025836 (35%) } # EOR GENR { RETE|ID 1 HUgn0000030 CHR 1 3 DID 1 LocusLink:30 MAP 1 3p23-p22 NAM 1 acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAA1 ID|HUgn0000030 DID|LocusLink:30 ORG|Homo sapiens RSQ|REFSEQ:NM_001607 RPA|REFPROT:NP_001598 DBA|XM:NM_001607 |NA:X65140 |NA:X65148 |NA:AF035295 |NA:AK025138 |NA:AK127051 |NA:BC000635 |NA:BC011977 |NA:BC014474 |NA:BC025780 |NA:BC039837 |NA:X12966 |NA:X14813 |NA:X51460 |NA:none PAC|XP:NP_001598 SYM|ACAA1 NAM|acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) SYN|ACAA |THIO |PTHIO FNC|acetyl-Coenzyme A acyltransferase 1 |energy pathways ; GO:0006091 REAB|Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation |system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger |syndrome CHR|3 PRD|peroxisomal 3-oxoacyl-Coenzyme A thiolase |Acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A |acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A thiolase) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=166160 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=30[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119643 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001607 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001607 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=166160 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=30 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00362 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24419 DBL|UNIGENE:Hs.166160 |OMIM:604054 |SNP:30 ENZ|EC:2.3.1.16 MAP|3p23-p22 PHP|Pseudo-Zellweger syndrome CEL|peroxisome ; GO:0005777 HG|species == rat; score == 699; expect == 0.0; MEOW:ref|NP_036621.1| (86%) |species == Mouse; gene == Acaa1; score == 696; expect == 0.0; MEOW:MGgn0030069 (85%) |species == rat; score == 694; expect == 0.0; MEOW:ref|XP_345998.1| (86%) |species == Weed; gene == At1g04710; score == 448; expect == 3e-126; MEOW:ATgn0005541 (56%) |species == rice; score == 442; expect == 4e-124; MEOW:gnl|TIGR|8351.m05505 (56%) |species == Weed; gene == At2g33150; score == 434; expect == 3e-122; MEOW:ATgn0010340 (55%) |species == rice; score == 433; expect == 2e-121; MEOW:gnl|TIGR|8362.m02423 (56%) |species == Weed; gene == At5g48880; score == 431; expect == 3e-121; MEOW:ATgn0022657 (58%) |species == Yeast; gene == POT1; score == 362; expect == 3e-100; MEOW:SGgn0001422 (51%) |species == ecoli; score == 247; expect == 9.3e-66; MEOW:ref|NP_417321.1| (37%) |species == Human; gene == ACAT2; score == 245; expect == 4.6e-65; MEOW:HUgn0000039 (41%) |species == ecoli; score == 245; expect == 4.6e-66; MEOW:ref|NP_418287.1| (42%) |species == Zfish; gene == acat2; score == 243; expect == 1.8e-64; MEOW:ZFgn0000284 (40%) |species == ecoli; score == 243; expect == 1.7e-65; MEOW:ref|NP_416728.1| (41%) |species == ecoli; score == 240; expect == 8.8e-64; MEOW:ref|NP_415915.1| (40%) |species == Mosquito; gene == LOC20372; score == 233; expect == 1.4e-61; MEOW:AGgn0020372 (38%) |species == Mosquito; gene == LOC13285; score == 229; expect == 1.6e-60; MEOW:AGgn0013285 (40%) |species == Worm; gene == F53A2.7; score == 224; expect == 4.9e-59; MEOW:CEgn0011549 (39%) |species == Human; gene == ACAA2; score == 219; expect == 3.0e-57; MEOW:HUgn0010449 (38%) |species == Mosquito; gene == LOC14645; score == 200; expect == 6.1e-52; MEOW:AGgn0014645 (43%) |species == Human; gene == HADHB; score == 197; expect == 1.1e-50; MEOW:HUgn0003032 (33%) |species == Fruitfly; gene == CG10932; score == 172; expect == 4.0e-43; MEOW:FBgn0029969 (32%) |species == Fruitfly; gene == Thiolase; score == 169; expect == 3.1e-42; MEOW:FBgn0025352 (32%) } # EOR GENR { RETE|ID 1 HUgn0000031 CHR 1 17 DID 1 LocusLink:31 MAP 1 17q21 NAM 1 acetyl-Coenzyme A carboxylase alpha ORG 1 Homo sapiens SYM 1 ACACA ID|HUgn0000031 DID|LocusLink:31 ORG|Homo sapiens RSQ|REFSEQ:NM_000664 RPA|REFPROT:NP_000655 DBA|XM:NM_000664 |NA:AY315616 |NA:AY315617 |NA:AY315618 |NA:AK129523 |NA:AY315619 |NA:AY315620 |NA:AY315621 |NA:AY315622 |NA:AY315623 |NA:AY315624 |NA:AY315625 |NA:AY315626 |NA:AY315627 |NA:BC031485 |NA:BC041598 |NA:BF154865 |NA:U19822 |NA:none PAC|XP:NP_000655 SYM|ACACA NAM|acetyl-Coenzyme A carboxylase alpha SYN|ACC |ACAC |ACC1 |ACCA FNC|acetyl-Coenzyme A carboxylase alpha |metabolism ; GO:0008152 |fatty acid biosynthesis ; GO:0006633 REAB|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is |a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, |the rate-limiting step in fatty acid synthesis. ACC-alpha is highly enriched in |lipogenic tissues and is under long term control at the transcriptional and translational |levels and under short term regulation by the phosphorylation/dephosphorylation |of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. CHR|17 DBL|OMIM:200350 |SNP:31 ENZ|EC:6.4.1.2 |biotin carboxylase activity ; GO:0004075 |biotin binding ; GO:0009374 |acetyl-CoA carboxylase activity ; GO:0003989 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|17q21 PHP|Acetyl-CoA carboxylase deficiency URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=31[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120534 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000664 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000664 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00253 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00061 CEL|biotin carboxylase complex ; GO:0009343 HG|species == rat; score == 4518; expect == 0.0; MEOW:ref|NP_071529.1| (97%) |species == Human; gene == ACACB; score == 3361; expect == 0.0; MEOW:HUgn0000032 (72%) |species == Mosquito; gene == LOC15662; score == 2808; expect == 0.0; MEOW:AGgn0015662 (61%) |species == Fruitfly; gene == CG11198; score == 2773; expect == 0.0; MEOW:FBgn0033246 (61%) |species == Yeast; gene == ACC1; score == 1788; expect == 0.0; MEOW:SGgn0005299 (44%) |species == Yeast; gene == HFA1; score == 1614; expect == 0.0; MEOW:SGgn0004820 (42%) |species == rice; score == 1516; expect == 0.0; MEOW:gnl|TIGR|8362.m01633 (39%) |species == Weed; gene == At1g36160; score == 1476; expect == 0.0; MEOW:ATgn0006015 (38%) |species == rice; score == 1450; expect == 0.0; MEOW:gnl|TIGR|8353.m01895 (37%) |species == Worm; gene == W09B6.1; score == 604; expect == 2e-172; MEOW:CEgn0017778 (43%) |species == Worm; gene == T28F3.5; score == 530; expect == 4e-150; MEOW:CEgn0017221 (41%) |species == Mouse; gene == Pcca; score == 237; expect == 2.0e-62; MEOW:MGgn0008812 (28%) |species == ecoli; score == 237; expect == 6.0e-63; MEOW:ref|NP_417722.1| (31%) |species == Mouse; gene == Mccc1; score == 234; expect == 3.0e-61; MEOW:MGgn0018765 (31%) |species == Mouse; gene == Pcx; score == 222; expect == 1.5e-57; MEOW:MGgn0008853 (30%) |species == Zfish; gene == pc; score == 208; expect == 1.3e-54; MEOW:ZFgn0000870 (28%) } # EOR GENR { RETE|ID 1 HUgn0000032 CHR 1 12 DID 1 LocusLink:32 MAP 1 12q24.1 NAM 1 acetyl-Coenzyme A carboxylase beta ORG 1 Homo sapiens SYM 1 ACACB ID|HUgn0000032 DID|LocusLink:32 ORG|Homo sapiens RSQ|REFSEQ:NM_001093 RPA|REFPROT:NP_001084 DBA|XM:NM_001093 |NA:U34591 |NA:U89344 |NA:none PAC|XP:NP_001084 SYM|ACACB NAM|acetyl-Coenzyme A carboxylase beta SYN|ACC2 |ACCB |HACC275 FNC|acetyl-Coenzyme A carboxylase beta |metabolism ; GO:0008152 |fatty acid biosynthesis ; GO:0006633 REAB|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a |biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, |the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control |fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA |transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. | ACC-beta may be involved in the regulation of fatty acid oxidation, rather than |fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. CHR|12 DBL|OMIM:601557 |SNP:32 ENZ|EC:6.4.1.2 |EC:6.3.4.14 |biotin carboxylase activity ; GO:0004075 |biotin binding ; GO:0009374 |acetyl-CoA carboxylase activity ; GO:0003989 |ATP binding ; GO:0005524 |ligase activity ; GO:0016874 MAP|12q24.1 URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=32[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5200247 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001093 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001093 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00253 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00061 CEL|biotin carboxylase complex ; GO:0009343 HG|species == rat; score == 3395; expect == 0.0; MEOW:ref|NP_071529.1| (73%) |species == Human; gene == ACACA; score == 3361; expect == 0.0; MEOW:HUgn0000031 (72%) |species == rat; score == 3285; expect == 0.0; MEOW:ref|XP_346442.1| (85%) |species == Mosquito; gene == LOC15662; score == 2682; expect == 0.0; MEOW:AGgn0015662 (58%) |species == Fruitfly; gene == CG11198; score == 2656; expect == 0.0; MEOW:FBgn0033246 (59%) |species == Yeast; gene == ACC1; score == 1744; expect == 0.0; MEOW:SGgn0005299 (45%) |species == Yeast; gene == HFA1; score == 1552; expect == 0.0; MEOW:SGgn0004820 (41%) |species == rice; score == 1435; expect == 0.0; MEOW:gnl|TIGR|8362.m01633 (38%) |species == Weed; gene == At1g36160; score == 1401; expect == 0.0; MEOW:ATgn0006015 (38%) |species == rice; score == 1385; expect == 0.0; MEOW:gnl|TIGR|8353.m01895 (37%) |species == Worm; gene == W09B6.1; score == 578; expect == 1e-164; MEOW:CEgn0017778 (44%) |species == Worm; gene == T28F3.5; score == 502; expect == 6e-142; MEOW:CEgn0017221 (39%) |species == Mouse; gene == Pcca; score == 217; expect == 2.1e-56; MEOW:MGgn0008812 (26%) |species == Mouse; gene == Mccc1; score == 211; expect == 2.8e-54; MEOW:MGgn0018765 (27%) |species == ecoli; score == 209; expect == 1.9e-54; MEOW:ref|NP_417722.1| (30%) |species == Mouse; gene == Pcx; score == 196; expect == 1.2e-49; MEOW:MGgn0008853 (29%) |species == Zfish; gene == pc; score == 188; expect == 1.9e-48; MEOW:ZFgn0000870 (29%) } # EOR GENR { RETE|ID 1 HUgn0000033 CHR 1 2 DID 1 LocusLink:33 MAP 1 2q34-q35 NAM 1 acyl-Coenzyme A dehydrogenase, long chain ORG 1 Homo sapiens SYM 1 ACADL ID|HUgn0000033 DID|LocusLink:33 ORG|Homo sapiens RSQ|REFSEQ:NM_001608 RPA|REFPROT:NP_001599 DBA|XM:NM_001608 |NA:BC039063 |NA:M74096 |NA:none PAC|XP:NP_001599 SYM|ACADL NAM|acyl-Coenzyme A dehydrogenase, long chain SYN|LCAD |ACAD4 FNC|acyl-Coenzyme A dehydrogenase, long chain precursor REAB|Long-chain acyl-coA dehydrogenase (ACADL), also abbreviated as LCAD, is a mitochondrial |metrix enzyme involved in catalyzing the first reaction in the mitochondrial beta-oxidation |cycles for fatty acids. Two other acyl-coA dehydrogenases are also involved in |fatty acid oxidation, medium chain and short chain ALDs. However, of these ACADL |catalyzes the first and critical step in this process. ACADL is a homotetrameic |enzyme of 45-kDa. It is synthesized in the cytoplasm a a precursor then processed |and targeted to the mitochondria. Genetic deficiency of ACADL is associated with |severe hypoglycemia, skeletal muscle weakness, hepatomegaly and cardiomegaly, which |can be fatal. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=430108 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=33[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118745 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001608 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001608 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=430108 |http://www.geneclinics.org/query?mim=201460 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.430108 |OMIM:201460 |SNP:33 ENZ|EC:1.3.99.13 MAP|2q34-q35 PHP|Acyl-CoA dehydrogenase, long chain, deficiency of HG|species == Mouse; gene == Acadl; score == 748; expect == 0.0; MEOW:MGgn0000037 (86%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_036951.1| (87%) |species == Human; gene == IVD; score == 240; expect == 1.2e-63; MEOW:HUgn0003712 (34%) |species == Fruitfly; gene == CG6638; score == 224; expect == 4.2e-59; MEOW:FBgn0035911 (33%) |species == Human; gene == ACADSB; score == 216; expect == 2.0e-56; MEOW:HUgn0000036 (33%) |species == Weed; gene == At3g45300; score == 214; expect == 5.7e-56; MEOW:ATgn0012521 (32%) |species == Mosquito; gene == LOC19082; score == 212; expect == 1.6e-55; MEOW:AGgn0019082 (32%) |species == Fruitfly; gene == CG12262; score == 212; expect == 1.7e-55; MEOW:FBgn0035811 (33%) |species == Worm; gene == C02B10.1; score == 211; expect == 5.6e-55; MEOW:CEgn0003792 (32%) |species == Worm; gene == T25G12.5; score == 211; expect == 3.3e-55; MEOW:CEgn0016968 (35%) |species == rice; score == 211; expect == 1.8e-54; MEOW:gnl|TIGR|8353.m00250 (31%) |species == Human; gene == ACADM; score == 210; expect == 1.0e-54; MEOW:HUgn0000034 (32%) |species == Human; gene == ACADS; score == 210; expect == 1.1e-54; MEOW:HUgn0000035 (32%) |species == Worm; gene == C37A2.3; score == 207; expect == 8.2e-54; MEOW:CEgn0006152 (32%) |species == Mosquito; gene == LOC21837; score == 205; expect == 1.9e-53; MEOW:AGgn0021837 (33%) |species == Worm; gene == C55B7.4a; score == 205; expect == 3.1e-53; MEOW:CEgn0031838 (33%) |species == Fruitfly; gene == Arc42; score == 205; expect == 2.0e-53; MEOW:FBgn0038742 (32%) |species == Human; gene == ACAD8; score == 199; expect == 1.8e-51; MEOW:HUgn0027034 (32%) |species == Fruitfly; gene == CG3902; score == 198; expect == 3.2e-51; MEOW:FBgn0036824 (31%) |species == Mosquito; gene == LOC15771; score == 197; expect == 5.3e-51; MEOW:AGgn0015771 (31%) |species == Worm; gene == F28A10.6; score == 196; expect == 1.9e-50; MEOW:CEgn0009492 (32%) |species == Worm; gene == C02D5.1; score == 195; expect == 3.2e-50; MEOW:CEgn0003809 (31%) |species == Worm; gene == K06A5.6; score == 195; expect == 3.2e-50; MEOW:CEgn0013313 (30%) |species == Worm; gene == T08G2.3; score == 195; expect == 3.2e-50; MEOW:CEgn0015823 (31%) |species == Worm; gene == K05F1.3; score == 194; expect == 4.2e-50; MEOW:CEgn0013276 (31%) |species == Mosquito; score == 184; expect == 4.6e-47; MEOW:AGgn0000447 (30%) |species == Mosquito; gene == LOC13168; score == 184; expect == 3.5e-47; MEOW:AGgn0013168 (32%) |species == Mosquito; score == 181; expect == 3.0e-46; MEOW:AGgn0020214 (40%) |species == Worm; gene == T10E9.9; score == 171; expect == 3.7e-43; MEOW:CEgn0015993 (32%) |species == ecoli; score == 155; expect == 4.9e-38; MEOW:ref|NP_416210.1| (29%) |species == ecoli; score == 133; expect == 1.9e-31; MEOW:ref|NP_414581.1| (25%) } # EOR GENR { RETE|ID 1 HUgn0000034 CHR 1 1 DID 1 LocusLink:34 MAP 1 1p31 NAM 1 acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ORG 1 Homo sapiens SYM 1 ACADM ID|HUgn0000034 DID|LocusLink:34 ORG|Homo sapiens RSQ|REFSEQ:NM_000016 RPA|REFPROT:NP_000007 DBA|XM:NM_000016 |NA:M60505 |NA:M91432 |NA:U33947 |NA:AF251043 |NA:BC005377 |NA:BX647734 |NA:M16827 |NA:none PAC|XP:NP_000007 SYM|ACADM NAM|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain SYN|MCAD |ACAD1 |MCADH FNC|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme |A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial |fatty acid beta-oxidation pathway. Clinical phenotypes are associated with ACADM |hereditary deficiency. CHR|1 PRD|medium-chain acyl-CoA dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=254593 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=34[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118958 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000016 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000016 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=254593 |http://www.geneclinics.org/query?mim=201450 |http://www.geneclinics.org/query?mim=607008 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.254593 |OMIM:607008 |SNP:34 |UWCM:118958.html ENZ|EC:1.3.99.3 |acyl-CoA dehydrogenase activity ; GO:0003995 |oxidoreductase activity ; GO:0016491 MAP|1p31 PHP|Acyl-CoA dehydrogenase, medium chain, deficiency of CEL|mitochondrial matrix ; GO:0005759 HG|species == Mouse; gene == Acadm; score == 765; expect == 0.0; MEOW:MGgn0000038 (87%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_058682.1| (86%) |species == Fruitfly; gene == CG12262; score == 587; expect == 2e-168; MEOW:FBgn0035811 (69%) |species == Mosquito; gene == LOC21837; score == 574; expect == 2e-164; MEOW:AGgn0021837 (70%) |species == Worm; gene == T08G2.3; score == 495; expect == 1e-140; MEOW:CEgn0015823 (64%) |species == Worm; gene == T25G12.5; score == 495; expect == 1e-140; MEOW:CEgn0016968 (63%) |species == Worm; gene == K05F1.3; score == 480; expect == 4e-136; MEOW:CEgn0013276 (61%) |species == Human; gene == ACADS; score == 264; expect == 6.1e-71; MEOW:HUgn0000035 (37%) |species == Human; gene == ACADSB; score == 245; expect == 3.8e-65; MEOW:HUgn0000036 (37%) |species == Human; gene == ACAD8; score == 236; expect == 2.3e-62; MEOW:HUgn0027034 (33%) |species == Weed; gene == At3g45300; score == 228; expect == 6.4e-60; MEOW:ATgn0012521 (35%) |species == Human; gene == IVD; score == 228; expect == 3.7e-60; MEOW:HUgn0003712 (34%) |species == rice; score == 226; expect == 5.3e-59; MEOW:gnl|TIGR|8353.m00250 (36%) |species == ecoli; score == 157; expect == 1.2e-38; MEOW:ref|NP_414581.1| (28%) |species == ecoli; score == 156; expect == 1.7e-38; MEOW:ref|NP_416210.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000035 CHR 1 12 DID 1 LocusLink:35 MAP 1 12q22-qter NAM 1 acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ORG 1 Homo sapiens SYM 1 ACADS ID|HUgn0000035 DID|LocusLink:35 ORG|Homo sapiens RSQ|REFSEQ:NM_000017 RPA|REFPROT:NP_000008 DBA|XM:NM_000017 |NA:Z80345 |NA:Z80347 |NA:BC025963 |NA:M26393 |NA:none PAC|XP:NP_000008 SYM|ACADS NAM|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain SYN|SCAD |ACAD3 FNC|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain precursor |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|The nuclear ACADS gene encodes a mitochondrially-targeted protein product. Acyl-Coenzyme |A dehydrogenase, short-chain specific, catalyzes the initial step of the mitochondrial |fatty acid beta-oxidation pathway. Clinical phenotypes, described elsewhere, are |associated with ACADS hereditary deficiency. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=348900 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=35[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118959 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000017 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000017 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=348900 |http://www.geneclinics.org/query?mim=201470 |http://www.geneclinics.org/query?mim=606885 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.348900 |OMIM:606885 |SNP:35 |UWCM:118959.html ENZ|EC:1.3.99.2 |butyryl-CoA dehydrogenase activity ; GO:0004085 |oxidoreductase activity ; GO:0016491 MAP|12q22-qter PHP|Acyl-CoA dehydrogenase, short-chain, deficiency of CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 683; expect == 0.0; MEOW:ref|NP_071957.1| (91%) |species == Mouse; gene == Acads; score == 680; expect == 0.0; MEOW:MGgn0000041 (91%) |species == Mosquito; gene == LOC19082; score == 548; expect == 2e-156; MEOW:AGgn0019082 (74%) |species == Fruitfly; gene == Arc42; score == 528; expect == 1e-150; MEOW:FBgn0038742 (73%) |species == Human; gene == ACADSB; score == 287; expect == 1.2e-77; MEOW:HUgn0000036 (41%) |species == Worm; gene == K06A5.6; score == 286; expect == 1.5e-77; MEOW:CEgn0013313 (41%) |species == Worm; gene == C55B7.4a; score == 282; expect == 3.8e-76; MEOW:CEgn0031838 (40%) |species == Worm; gene == C02B10.1; score == 270; expect == 8.4e-73; MEOW:CEgn0003792 (38%) |species == Worm; gene == T08G2.3; score == 265; expect == 4.6e-71; MEOW:CEgn0015823 (39%) |species == Human; gene == ACADM; score == 264; expect == 6.1e-71; MEOW:HUgn0000034 (37%) |species == Worm; gene == T25G12.5; score == 263; expect == 1.0e-70; MEOW:CEgn0016968 (39%) |species == Worm; gene == K05F1.3; score == 261; expect == 3.8e-70; MEOW:CEgn0013276 (39%) |species == Human; gene == IVD; score == 258; expect == 5.7e-69; MEOW:HUgn0003712 (38%) |species == rice; score == 252; expect == 5.1e-67; MEOW:gnl|TIGR|8353.m00250 (37%) |species == Human; gene == ACAD8; score == 250; expect == 8.9e-67; MEOW:HUgn0027034 (37%) |species == Weed; gene == At3g45300; score == 244; expect == 8.2e-65; MEOW:ATgn0012521 (38%) |species == Worm; gene == F28A10.6; score == 235; expect == 5.0e-62; MEOW:CEgn0009492 (37%) |species == Worm; gene == T10E9.9; score == 235; expect == 3.6e-62; MEOW:CEgn0015993 (43%) |species == ecoli; score == 175; expect == 3.5e-44; MEOW:ref|NP_416210.1| (30%) |species == ecoli; score == 163; expect == 1.7e-40; MEOW:ref|NP_414581.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000036 CHR 1 10 DID 1 LocusLink:36 MAP 1 10q25-q26 NAM 1 acyl-Coenzyme A dehydrogenase, short/branched chain ORG 1 Homo sapiens SYM 1 ACADSB ID|HUgn0000036 DID|LocusLink:36 ORG|Homo sapiens RSQ|REFSEQ:NM_001609 RPA|REFPROT:NP_001600 DBA|XM:NM_001609 |NA:AL831821 |NA:BC013756 |NA:BC020931 |NA:BC032395 |NA:BC045723 |NA:BE875638 |NA:U12778 |NA:none PAC|XP:NP_001600 SYM|ACADSB NAM|acyl-Coenzyme A dehydrogenase, short/branched chain SYN|ACAD7 |SBCAD |2-MEBCAD FNC|acyl-Coenzyme A dehydrogenase, short/branched chain precursor |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 |energy pathways ; GO:0006091 REAB|Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase |family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the |metabolism of fatty acids or branch chained amino acids. Substrate specificity is |the primary characteristic used to define members of this gene family. The ACADSB |gene product has the greatest activity towards the short branched chain acyl-CoA |derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl |branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes |for a mitochondrial precursor protein which is cleaved upon mitochondrial import |and predicted to yield a mature peptide of approximately 43.7-KDa. CHR|10 PRD|2-methylbutyryl-CoA dehydrogenase |2-methyl branched chain acyl-CoA dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=81934 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=36[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:388699 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001609 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001609 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=81934 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.81934 |OMIM:600301 |SNP:36 MAP|10q25-q26 ENZ|acyl-CoA dehydrogenase activity ; GO:0003995 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 726; expect == 0.0; MEOW:ref|NP_037216.1| (84%) |species == Mouse; gene == Acadsb; score == 719; expect == 0.0; MEOW:MGgn0016625 (83%) |species == Fruitfly; gene == CG3902; score == 497; expect == 3e-141; MEOW:FBgn0036824 (62%) |species == Worm; gene == K06A5.6; score == 489; expect == 1e-138; MEOW:CEgn0013313 (61%) |species == Mosquito; gene == LOC15771; score == 485; expect == 2e-137; MEOW:AGgn0015771 (60%) |species == Worm; gene == C55B7.4a; score == 454; expect == 4e-128; MEOW:CEgn0031838 (56%) |species == Human; gene == ACADS; score == 287; expect == 1.2e-77; MEOW:HUgn0000035 (41%) |species == Human; gene == ACADM; score == 245; expect == 3.8e-65; MEOW:HUgn0000034 (37%) |species == Human; gene == IVD; score == 244; expect == 8.6e-65; MEOW:HUgn0003712 (33%) |species == Weed; gene == At3g45300; score == 240; expect == 1.7e-63; MEOW:ATgn0012521 (37%) |species == rice; score == 233; expect == 3.4e-61; MEOW:gnl|TIGR|8353.m00250 (34%) |species == ecoli; score == 162; expect == 2.2e-40; MEOW:ref|NP_414581.1| (26%) |species == ecoli; score == 142; expect == 3.3e-34; MEOW:ref|NP_416210.1| (26%) } # EOR GENR { RETE|ID 1 HUgn0000037 CHR 1 17 DID 1 LocusLink:37 MAP 1 17p13-p11 NAM 1 acyl-Coenzyme A dehydrogenase, very long chain ORG 1 Homo sapiens SYM 1 ACADVL ID|HUgn0000037 DID|LocusLink:37 ORG|Homo sapiens RSQ|REFSEQ:NM_000018 RPA|REFPROT:NP_000009 DBA|XM:NM_000018 |NA:AF244932 |NA:AJ012053 |NA:D78298 |NA:L46590 |NA:AK056083 |NA:AK056956 |NA:AK058109 |NA:AK097243 |NA:BC000399 |NA:BC012912 |NA:BC020218 |NA:D43682 |NA:X86556 |NA:none PAC|XP:NP_000009 SYM|ACADVL NAM|acyl-Coenzyme A dehydrogenase, very long chain SYN|ACAD6 |LCACD |VLCAD FNC|acyl-Coenzyme A dehydrogenase, very long chain precursor |fatty acid beta-oxidation ; GO:0006635 |energy derivation by oxidation of organic compounds ; GO:0015980 |electron transport ; GO:0006118 |fatty acid metabolism ; GO:0006631 REAB|The ACADVL gene product is targetted to the inner mitochondrial membrane where it |catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. | This acyl-Coenzyme A dehydrogenase is specific to long-chain and very long-chain |fatty acids. ACADVL deficiency reduces myocardial fatty acid beta-oxidation and |is associated with cardiomyopathy. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437178 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=37[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1248185 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000018 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000018 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=437178 |http://www.geneclinics.org/query?mim=201475 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00100 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00900 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 DBL|UNIGENE:Hs.437178 |OMIM:201475 |SNP:37 |UWCM:1248185.html MAP|17p13-p11 PHP|VLCAD deficiency ENZ|long-chain-acyl-CoA dehydrogenase activity ; GO:0004466 |oxidoreductase activity ; GO:0016491 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 1056; expect == 0.0; MEOW:ref|NP_037023.1| (85%) |species == Mouse; gene == Acadvl; score == 1044; expect == 0.0; MEOW:MGgn0000042 (84%) |species == Fruitfly; gene == CG7461; score == 660; expect == 0.0; MEOW:FBgn0034432 (57%) |species == Mosquito; score == 617; expect == 5e-177; MEOW:AGgn0012480 (60%) |species == Mosquito; score == 558; expect == 2e-159; MEOW:AGgn0012475 (61%) |species == Worm; gene == E04F6.5; score == 541; expect == 4e-154; MEOW:CEgn0007606 (48%) |species == Human; gene == ACAD9; score == 503; expect == 2e-142; MEOW:HUgn0028976 (46%) |species == Weed; gene == At3g45300; score == 198; expect == 7.0e-51; MEOW:ATgn0012521 (32%) |species == rice; score == 198; expect == 2.6e-50; MEOW:gnl|TIGR|8353.m00250 (33%) |species == ecoli; score == 129; expect == 4.6e-31; MEOW:ref|NP_414581.1| (29%) } # EOR GENR { RETE|ID 1 HUgn0000038 CHR 1 11 DID 1 LocusLink:38 MAP 1 11q22.3-q23.1 NAM 1 acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAT1 ID|HUgn0000038 DID|LocusLink:38 ORG|Homo sapiens RSQ|REFSEQ:NM_000019 RPA|REFPROT:NP_000010 DBA|XM:NM_000019 |NA:D10511 |NA:BC010942 |NA:D90228 |NA:none PAC|XP:NP_000010 SYM|ACAT1 NAM|acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) SYN|T2 |MAT |ACAT |THIL FNC|acetyl-Coenzyme A acetyltransferase 1 precursor REAB|This gene encodes a mitochondrially localized enzyme that catalyzes the reversible |formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately |27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are |associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of |isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric |acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. CHR|11 PRD|acetoacetyl Coenzyme A thiolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=37 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=38[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000019 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000019 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=37 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=38 |http://www.geneclinics.org/query?mim=203750 |http://www.geneclinics.org/query?mim=607809 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00072 DBL|UNIGENE:Hs.37 |OMIM:607809 |SNP:38 |UWCM:126861.html ENZ|EC:2.3.1.9 |acetyl-CoA C-acetyltransferase activity ; GO:0003985 MAP|11q22.3-q23.1 PHP|Alpha-methylacetoacetic aciduria CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Acat1; score == 693; expect == 0.0; MEOW:MGgn0000045 (84%) |species == rat; score == 691; expect == 0.0; MEOW:ref|NP_058771.1| (84%) |species == Mosquito; score == 510; expect == 3e-145; MEOW:AGgn0017971 (67%) |species == Fruitfly; gene == CG10932; score == 509; expect == 8e-145; MEOW:FBgn0029969 (65%) |species == Worm; gene == T02G5.7; score == 373; expect == 8e-104; MEOW:CEgn0015227 (49%) |species == Weed; gene == At5g47720; score == 369; expect == 1e-102; MEOW:ATgn0026318 (51%) |species == Weed; gene == At5g48230; score == 364; expect == 8e-101; MEOW:ATgn0021200 (51%) |species == rice; score == 342; expect == 6.7e-94; MEOW:gnl|TIGR|8357.m00537 (49%) |species == Yeast; gene == ERG10; score == 341; expect == 1.1e-94; MEOW:SGgn0005949 (48%) |species == rice; score == 318; expect == 7.9e-87; MEOW:gnl|TIGR|8350.m00101 (48%) |species == ecoli; score == 315; expect == 2.8e-86; MEOW:ref|NP_417321.1| (43%) |species == Zfish; gene == acat2; score == 305; expect == 3.8e-83; MEOW:ZFgn0000284 (42%) |species == Human; gene == ACAT2; score == 297; expect == 1.0e-80; MEOW:HUgn0000039 (43%) |species == ecoli; score == 282; expect == 3.4e-77; MEOW:ref|NP_416728.1| (44%) |species == Human; gene == ACAA2; score == 246; expect == 1.7e-65; MEOW:HUgn0010449 (39%) } # EOR GENR { RETE|ID 1 HUgn0000039 CHR 1 6 DID 1 LocusLink:39 MAP 1 6q25.3-q26 NAM 1 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) ORG 1 Homo sapiens SYM 1 ACAT2 ID|HUgn0000039 DID|LocusLink:39 ORG|Homo sapiens RSQ|REFSEQ:NM_005891 RPA|REFPROT:NP_005882 DBA|XM:NM_005891 |NA:AF356877 |NA:AK055001 |NA:BC000408 |NA:S70154 PAC|XP:NP_005882 SYM|ACAT2 NAM|acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) FNC|acetyl-Coenzyme A acetyltransferase 2 |lipid metabolism ; GO:0006629 REAB|Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. | Reported patients with ACAT2 deficiency have shown severe mental retardation and |hypotonus. The ACAT2 gene shows complementary overlapping with the 3-prime region |of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands |of DNA, as well as in opposite transcriptional orientation. CHR|6 PRD|acetoacetyl Coenzyme A thiolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=278544 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=39[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:321951 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005891 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005891 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=278544 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00062 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00072 DBL|UNIGENE:Hs.278544 |OMIM:100678 |SNP:39 MAP|6q25.3-q26 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Acat2; score == 697; expect == 0.0; MEOW:MGgn0000046 (87%) |species == rat; score == 693; expect == 0.0; MEOW:ref|XP_217796.2| (86%) |species == rat; score == 586; expect == 2e-167; MEOW:ref|XP_344813.1| (85%) |species == Zfish; gene == acat2; score == 569; expect == 1e-162; MEOW:ZFgn0000284 (70%) |species == Mosquito; gene == LOC20372; score == 452; expect == 8e-128; MEOW:AGgn0020372 (57%) |species == ecoli; score == 388; expect == 3e-109; MEOW:ref|NP_416728.1| (53%) |species == ecoli; score == 364; expect == 5e-101; MEOW:ref|NP_417321.1| (48%) |species == Weed; gene == At5g48230; score == 314; expect == 4.8e-86; MEOW:ATgn0021200 (46%) |species == Worm; gene == F53A2.7; score == 302; expect == 1.3e-82; MEOW:CEgn0011549 (42%) |species == Human; gene == ACAT1; score == 297; expect == 1.0e-80; MEOW:HUgn0000038 (43%) |species == Weed; gene == At5g47720; score == 293; expect == 1.5e-79; MEOW:ATgn0026318 (44%) |species == Human; gene == ACAA2; score == 293; expect == 1.5e-79; MEOW:HUgn0010449 (42%) |species == rice; score == 293; expect == 2.5e-79; MEOW:gnl|TIGR|8357.m00537 (44%) |species == Yeast; gene == ERG10; score == 287; expect == 1.8e-78; MEOW:SGgn0005949 (41%) |species == Fruitfly; gene == CG10932; score == 283; expect == 5.3e-77; MEOW:FBgn0029969 (41%) |species == Worm; gene == T02G5.7; score == 269; expect == 1.2e-72; MEOW:CEgn0015227 (39%) |species == rice; score == 262; expect == 4.7e-70; MEOW:gnl|TIGR|8350.m00101 (40%) |species == rice; score == 246; expect == 3.5e-65; MEOW:gnl|TIGR|8351.m05505 (38%) |species == rice; score == 246; expect == 2.7e-65; MEOW:gnl|TIGR|8362.m02423 (40%) |species == Human; gene == ACAA1; score == 245; expect == 4.6e-65; MEOW:HUgn0000030 (41%) } # EOR GENR { RETE|ID 1 HUgn0000040 CHR 1 17 DID 1 LocusLink:40 MAP 1 17q11.2-q12 NAM 1 amiloride-sensitive cation channel 1, neuronal (degenerin) ORG 1 Homo sapiens SYM 1 ACCN1 ID|HUgn0000040 DID|LocusLink:40 ORG|Homo sapiens RSQ|REFSEQ:NM_001094 |REFSEQ:NM_183377 RPA|REFPROT:NP_001085 |REFPROT:NP_899233 DBA|XM:NM_001094 |NA:AK127748 |NA:AL834182 |NA:U50352 |NA:U53212 |NA:U57352 |NA:none PAC|XP:NP_001085 SYM|ACCN1 NAM|amiloride-sensitive cation channel 1, neuronal (degenerin) SYN|ACCN |BNC1 |MDEG |ASIC2 |BNaC1 |ASIC2a |hBNaC1 FNC|neuronal amiloride-sensitive cation channel 1 isoform 1 |neuronal amiloride-sensitive cation channel 1 isoform 2 REAB|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) |superfamily. The members of this family are amiloride-sensitive sodium channels |that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, |and a large extracellular loop, which has many cysteine residues with conserved |spacing. The member encoded by this gene may play a role in neurotransmission. In |addition, a heteromeric association between this member and ACCN3 (variant 1) has |been observed to co-assemble into proton-gated channels sensitive to gadolinium. |Alternative splicing has been observed at this locus and two variants, encoding |distinct isoforms, have been identified. CHR|17 PRD|degenerin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=6517 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=40[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4645366 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183377 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183377 DBL|UNIGENE:Hs.6517 |OMIM:601784 |SNP:40 MAP|17q11.2-q12 HG|species == rat; score == 973; expect == 0.0; MEOW:ref|NP_037024.1| (99%) |species == Mouse; gene == Accn1; score == 741; expect == 0.0; MEOW:MGgn0000050 (78%) |species == Human; gene == ACCN2; score == 716; expect == 0.0; MEOW:HUgn0000041 (66%) |species == Worm; gene == mec-10; score == 137; expect == 1.3e-32; MEOW:CEgn0001940 (28%) |species == Worm; gene == flr-1; score == 136; expect == 3.2e-32; MEOW:CEgn0000689 (24%) |species == Worm; gene == C24G7.4; score == 136; expect == 4.3e-32; MEOW:CEgn0005283 (27%) |species == Worm; gene == unc-105; score == 135; expect == 1.3e-31; MEOW:CEgn0002985 (30%) |species == Worm; gene == unc-8; score == 133; expect == 4.4e-31; MEOW:CEgn0002894 (27%) } # EOR GENR { RETE|ID 1 HUgn0000041 CHR 1 12 DID 1 LocusLink:41 MAP 1 12q12 NAM 1 amiloride-sensitive cation channel 2, neuronal ORG 1 Homo sapiens SYM 1 ACCN2 ID|HUgn0000041 DID|LocusLink:41 ORG|Homo sapiens RSQ|REFSEQ:NM_001095 |REFSEQ:NM_020039 RPA|REFPROT:NP_001086 |REFPROT:NP_064423 DBA|XM:NM_001095 |XM:NM_020039 |NA:BC013891 |NA:U78180 |NA:U78181 |NA:none PAC|XP:NP_001086 |XP:NP_064423 SYM|ACCN2 NAM|amiloride-sensitive cation channel 2, neuronal SYN|ASIC |BNaC2 |ASIC1A FNC|amiloride-sensitive cation channel 2, neuronal isoform a |amiloride-sensitive cation channel 2, neuronal isoform b |sodium ion transport ; GO:0006814 |ion transport ; GO:0006811 REAB|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) |superfamily. The members of this family are amiloride-sensitive sodium channels |that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, |and a large extracellular loop, which has many cysteine residues with conserved |spacing. The member encoded by this gene is expressed in most if not all brain neurons, |and it may be an ion channel subunit; however, its function as an ion channel remains |unknown. Alternative splicing of this gene generates 2 transcript products. CHR|12 PRD|hBNaC2 |Cation channel, amiloride-sensitive, neuronal, 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=274361 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=41[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6944484 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020039 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020039 DBL|UNIGENE:Hs.274361 |OMIM:602866 |SNP:41 MAP|12q12 ENZ|ion channel activity ; GO:0005216 |amiloride-sensitive sodium channel activity ; GO:0015280 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1068; expect == 0.0; MEOW:ref|NP_077068.1| (98%) |species == Human; gene == ACCN1; score == 716; expect == 0.0; MEOW:HUgn0000040 (66%) |species == Mouse; gene == Accn1; score == 601; expect == 2e-172; MEOW:MGgn0000050 (59%) |species == Mouse; gene == Accn4; score == 485; expect == 1e-137; MEOW:MGgn0042059 (49%) |species == Worm; gene == T28B8.5; score == 147; expect == 7.6e-36; MEOW:CEgn0017174 (23%) |species == Worm; gene == unc-8; score == 136; expect == 1.7e-32; MEOW:CEgn0002894 (27%) |species == Worm; gene == mec-10; score == 135; expect == 3.9e-32; MEOW:CEgn0001940 (27%) |species == Worm; gene == C24G7.4; score == 135; expect == 3.9e-32; MEOW:CEgn0005283 (26%) |species == Worm; gene == T28F4.2; score == 134; expect == 8.7e-32; MEOW:CEgn0017227 (23%) |species == Worm; gene == unc-105; score == 132; expect == 4.3e-31; MEOW:CEgn0002985 (27%) } # EOR GENR { RETE|ID 1 HUgn0000042 DID 1 LocusLink:42 NAM 1 acetylcholinesterase-associated protein ORG 1 Homo sapiens SYM 1 ACHAP ID|HUgn0000042 DID|LocusLink:42 ORG|Homo sapiens SYM|ACHAP NAM|acetylcholinesterase-associated protein URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:9836107 } # EOR GENR { RETE|ID 1 HUgn0000043 CHR 1 7 DID 1 LocusLink:43 MAP 1 7q22 NAM 1 acetylcholinesterase (YT blood group) ORG 1 Homo sapiens SYM 1 ACHE ID|HUgn0000043 DID|LocusLink:43 ORG|Homo sapiens RSQ|REFSEQ:NM_000665 |REFSEQ:NM_015831 RPA|REFPROT:NP_000656 |REFPROT:NP_056646 DBA|XM:NM_000665 |XM:NM_015831 |XM:NM_000665 |XM:NM_015831 |NA:AF002993 |NA:L06484 |NA:L42812 |NA:AF334270 |NA:BC026315 |NA:BC036813 |NA:M55040 |NA:none PAC|XP:NP_000656 |XP:NP_056646 |XP:NP_000656 |XP:NP_056646 SYM|ACHE NAM|acetylcholinesterase (YT blood group) SYN|YT FNC|acetylcholinesterase PI-linked form precursor |acetylcholinesterase hydrophilic form precursor REAB|Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular |junctions and brain cholinergic synapses, and thus terminates signal transmission. |It is also found on the red blood cell membranes, where it constitutes the Yt blood |group antigen. Acetylcholinesterase exists in multiple molecular forms which possess |similar catalytic properties, but differ in their oligomeric assembly and mode of |cell attachment to the cell surface. It is encoded by the single ACHE gene, and |the structural diversity in the gene products arises from alternative mRNA splicing, |and post-translational associations of catalytic and structural subunits. The major |form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic |species, which forms disulfide-linked oligomers with collagenous, or lipid-containing |structural subunits. The other, alternatively spliced form, expressed primarily |in the erythroid tissues, differs at the C-terminal end, and contains a cleavable |hydrophobic peptide with a GPI-anchor site. It associates with the membranes through |the phosphoinositide (PI) moieties added post-translationally. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=154495 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=43[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118746 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015831 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015831 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=154495 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=05010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.bioc.aecom.yu.edu/bgmut/yt.htm DBL|UNIGENE:Hs.154495 |OMIM:100740 |SNP:43 |UWCM:118746.html ENZ|EC:3.1.1.7 MAP|7q22 PHP|Blood group, Yt system HG|species == Mouse; gene == Ache; score == 1086; expect == 0.0; MEOW:MGgn0000055 (88%) |species == Zfish; gene == ache; score == 751; expect == 0.0; MEOW:ZFgn0002325 (59%) |species == rat; score == 647; expect == 0.0; MEOW:ref|NP_075231.1| (52%) |species == Human; gene == BCHE; score == 646; expect == 0.0; MEOW:HUgn0000590 (52%) |species == Mosquito; gene == LOC16929; score == 506; expect == 8e-144; MEOW:AGgn0016929 (47%) |species == Worm; gene == ace-1; score == 436; expect == 2e-122; MEOW:CEgn0000003 (41%) |species == Fruitfly; gene == Ace; score == 376; expect == 2e-104; MEOW:FBgn0000024 (35%) } # EOR GENR { RETE|ID 1 HUgn0000046 CHR 1 12 DID 1 LocusLink:46 MAP 1 12p13.3-p11.2 NAM 1 acrocallosal syndrome ORG 1 Homo sapiens SYM 1 ACLS ID|HUgn0000046 DID|LocusLink:46 ORG|Homo sapiens SYM|ACLS NAM|acrocallosal syndrome CHR|12 DBL|OMIM:200990 MAP|12p13.3-p11.2 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:136346 } # EOR GENR { RETE|ID 1 HUgn0000047 CHR 1 17 DID 1 LocusLink:47 MAP 1 17q12-q21 NAM 1 ATP citrate lyase ORG 1 Homo sapiens SYM 1 ACLY ID|HUgn0000047 DID|LocusLink:47 ORG|Homo sapiens RSQ|REFSEQ:NM_001096 RPA|REFPROT:NP_001087 DBA|XM:NM_001096 |NA:BC006195 |NA:U18197 |NA:X64330 |NA:none PAC|XP:NP_001087 SYM|ACLY NAM|ATP citrate lyase SYN|ATPCL |CLATP FNC|ATP citrate lyase |ATP catabolism ; GO:0006200 |coenzyme A metabolism ; GO:0015936 |citrate metabolism ; GO:0006101 |tricarboxylic acid cycle ; GO:0006099 |metabolism ; GO:0008152 |lipid biosynthesis ; GO:0008610 REAB|ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic |acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight |approximately 440,000) of apparently identical subunits. It catalyzes the formation |of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis |of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic |pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase |may be involved in the biosynthesis of acetylcholine. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=387567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=47[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:316220 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001096 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001096 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=387567 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 DBL|UNIGENE:Hs.387567 |OMIM:108728 |SNP:47 ENZ|EC:4.1.3.8 |citrate (Si)-synthase activity ; GO:0004108 |ATP citrate synthase activity ; GO:0003878 |ATP binding ; GO:0005524 |magnesium ion binding ; GO:0000287 |transferase activity ; GO:0016740 MAP|17q12-q21 CEL|citrate lyase complex ; GO:0009346 HG|species == rat; score == 2086; expect == 0.0; MEOW:ref|NP_058683.1| (95%) |species == Mouse; gene == Acly; score == 2046; expect == 0.0; MEOW:MGgn0000059 (93%) |species == Fruitfly; gene == ATPCL; score == 1489; expect == 0.0; MEOW:FBgn0020236 (67%) |species == Mosquito; gene == LOC12364; score == 1474; expect == 0.0; MEOW:AGgn0012364 (67%) |species == Worm; gene == D1005.1; score == 1283; expect == 0.0; MEOW:CEgn0007269 (58%) |species == Worm; gene == B0365.1; score == 1279; expect == 0.0; MEOW:CEgn0003427 (59%) |species == Weed; gene == At3g06650; score == 647; expect == 0.0; MEOW:ATgn0016816 (51%) |species == Weed; gene == At5g49460; score == 642; expect == 0.0; MEOW:ATgn0022823 (51%) |species == rice; score == 626; expect == 5e-179; MEOW:gnl|TIGR|8350.m01804 (53%) } # EOR GENR { RETE|ID 1 HUgn0000048 CHR 1 9 DID 1 LocusLink:48 MAP 1 9p22-q32 NAM 1 aconitase 1, soluble ORG 1 Homo sapiens SYM 1 ACO1 ID|HUgn0000048 DID|LocusLink:48 ORG|Homo sapiens RSQ|REFSEQ:NM_002197 RPA|REFPROT:NP_002188 DBA|XM:NM_002197 |NA:AF261088 |NA:AK057904 |NA:BC018103 |NA:M58510 |NA:Z11559 |NA:none PAC|XP:NP_002188 SYM|ACO1 NAM|aconitase 1, soluble SYN|IRP1 |IREB1 |IREBP FNC|aconitase 1 |tricarboxylic acid cycle ; GO:0006099 |metabolism ; GO:0008152 |negative regulation of translation ; GO:0016478 REAB|Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is |a cytosolic protein which binds to iron-responsive elements (IREs). IREs are stem-loop |structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin |receptor mRNA. The iron-induced binding to the IRE results in repression of translation |of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading |transferrin receptor mRNA. Thus, IREB1 plays a central role in cellular iron homeostasis. | It was also shown to have aconitase activity, and hence grouped with the aconitase |family of enzymes. CHR|9 PRD|Aconitase, soluble |iron-responsive element binding protein 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=319677 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=48[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_002197 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_002197 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=319677 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00630 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00720 DBL|UNIGENE:Hs.319677 |OMIM:100880 |SNP:48 ENZ|EC:4.2.1.3 |aconitate hydratase activity ; GO:0003994 |RNA binding ; GO:0003723 |lyase activity ; GO:0016829 MAP|9p22-q32 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Aco1; score == 1622; expect == 0.0; MEOW:MGgn0000060 (93%) |species == rat; score == 1602; expect == 0.0; MEOW:ref|XP_346736.1| (93%) |species == Mosquito; score == 1204; expect == 0.0; MEOW:AGgn0015921 (67%) |species == Fruitfly; gene == Irp-1B; score == 1171; expect == 0.0; MEOW:FBgn0024957 (67%) |species == Fruitfly; gene == Irp-1A; score == 1161; expect == 0.0; MEOW:FBgn0024958 (67%) |species == Weed; gene == At2g05710; score == 1090; expect == 0.0; MEOW:ATgn0009667 (62%) |species == rice; score == 1080; expect == 0.0; MEOW:gnl|TIGR|8356.m00870 (61%) |species == Weed; gene == At4g35830; score == 1077; expect == 0.0; MEOW:ATgn0017137 (60%) |species == rice; score == 1059; expect == 0.0; MEOW:gnl|TIGR|8360.m00338 (60%) |species == Weed; gene == At4g26970; score == 1050; expect == 0.0; MEOW:ATgn0018182 (60%) |species == Human; gene == IREB2; score == 981; expect == 0.0; MEOW:HUgn0003658 (53%) |species == ecoli; score == 863; expect == 0.0; MEOW:ref|NP_415792.1| (52%) } # EOR GENR { RETE|ID 1 HUgn0000049 CHR 1 22 DID 1 LocusLink:49 MAP 1 22q13-qter NAM 1 acrosin ORG 1 Homo sapiens SYM 1 ACR ID|HUgn0000049 DID|LocusLink:49 ORG|Homo sapiens RSQ|REFSEQ:NM_001097 RPA|REFPROT:NP_001088 DBA|XM:NM_001097 |NA:M77379 |NA:M77381 |NA:X54017 |NA:X66188 |NA:Y00970 |NA:none PAC|XP:NP_001088 SYM|ACR NAM|acrosin FNC|acrosin precursor |acrosome reaction ; GO:0007340 |proteolysis and peptidolysis ; GO:0006508 REAB|Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It |is a typical serine proteinase with trypsin-like specificity. It is stored in the |acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis |of the zona pellucida, thus facilitating penetration of the sperm through the innermost |glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in |the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in |the haploid spermatids. CHR|22 PRD|proacrosin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183088 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=49[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119645 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001097 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001097 DBL|UNIGENE:Hs.183088 |OMIM:102480 |SNP:49 ENZ|EC:3.4.21.10 |trypsin activity ; GO:0004295 |acrosin activity ; GO:0004284 |chymotrypsin activity ; GO:0004263 |hydrolase activity ; GO:0016787 MAP|22q13-qter HG|species == Mouse; gene == Acr; score == 501; expect == 3e-142; MEOW:MGgn0000066 (68%) |species == rat; score == 451; expect == 3e-127; MEOW:ref|NP_036622.1| (63%) |species == Human; gene == bA395L14.13; score == 250; expect == 4.9e-67; MEOW:HUgn0284967 (96%) |species == Mosquito; gene == LOC17112; score == 161; expect == 3.1e-40; MEOW:AGgn0017112 (35%) |species == Fruitfly; gene == Sb; score == 161; expect == 4.3e-40; MEOW:FBgn0003319 (36%) |species == Mosquito; gene == LOC22018; score == 155; expect == 2.2e-38; MEOW:AGgn0022018 (35%) |species == Fruitfly; gene == CG10663; score == 149; expect == 2.2e-36; MEOW:FBgn0036287 (31%) |species == Mosquito; gene == LOC11642; score == 148; expect == 2.4e-36; MEOW:AGgn0011642 (37%) |species == Fruitfly; gene == CG11824; score == 147; expect == 8.3e-36; MEOW:FBgn0033360 (34%) |species == Fruitfly; gene == CG4914; score == 147; expect == 4.9e-36; MEOW:FBgn0036436 (36%) |species == Mosquito; gene == LOC4000; score == 146; expect == 1.0e-35; MEOW:AGgn0004000 (38%) |species == Mosquito; gene == LOC12218; score == 146; expect == 1.4e-35; MEOW:AGgn0012218 (37%) |species == Worm; gene == C07G1.1; score == 145; expect == 3.7e-35; MEOW:CEgn0004322 (36%) |species == Fruitfly; gene == CG9372; score == 145; expect == 3.2e-35; MEOW:FBgn0036891 (35%) |species == Mosquito; gene == LOC17160; score == 144; expect == 5.2e-35; MEOW:AGgn0017160 (35%) |species == Mosquito; score == 142; expect == 2.6e-34; MEOW:AGgn0028900 (33%) |species == Fruitfly; gene == CG18735; score == 142; expect == 1.6e-34; MEOW:FBgn0042098 (34%) |species == Mosquito; gene == LOC12216; score == 141; expect == 4.4e-34; MEOW:AGgn0012216 (35%) |species == Fruitfly; gene == CG2105; score == 140; expect == 7.8e-34; MEOW:FBgn0033192 (34%) |species == Fruitfly; gene == CG8213; score == 138; expect == 3.0e-33; MEOW:FBgn0033359 (34%) |species == Mosquito; gene == LOC10961; score == 137; expect == 6.3e-33; MEOW:AGgn0010961 (33%) |species == Fruitfly; gene == CG8172; score == 136; expect == 1.5e-32; MEOW:FBgn0033362 (33%) |species == Mosquito; score == 135; expect == 2.4e-32; MEOW:AGgn0025376 (32%) |species == Fruitfly; gene == CG4386; score == 135; expect == 3.3e-32; MEOW:FBgn0034661 (32%) |species == Mosquito; score == 134; expect == 5.8e-32; MEOW:AGgn0026298 (38%) |species == Worm; gene == ZK546.15; score == 134; expect == 5.0e-32; MEOW:CEgn0021019 (32%) |species == Mosquito; gene == LOC19999; score == 132; expect == 1.5e-31; MEOW:AGgn0019999 (37%) |species == Mosquito; gene == LOC15292; score == 131; expect == 5.4e-31; MEOW:AGgn0015292 (36%) |species == chimp; score == 126; expect == 4.8e-31; MEOW:sp|Q95ND7|Q95ND7 (35%) } # EOR GENR { RETE|ID 1 HUgn0000050 CHR 1 22 DID 1 LocusLink:50 MAP 1 22q11.2-q13.31 NAM 1 aconitase 2, mitochondrial ORG 1 Homo sapiens SYM 1 ACO2 ID|HUgn0000050 DID|LocusLink:50 ORG|Homo sapiens RSQ|REFSEQ:NM_001098 RPA|REFPROT:NP_001089 DBA|XM:NM_001098 |NA:U87926 |NA:U87927 |NA:U87928 |NA:U87929 |NA:U87930 |NA:U87931 |NA:U87932 |NA:U87933 |NA:U87934 |NA:U87935 |NA:U87936 |NA:U87937 |NA:U87938 |NA:U87939 |NA:BC014092 |NA:BC026196 |NA:U80040 |NA:none PAC|XP:NP_001089 SYM|ACO2 NAM|aconitase 2, mitochondrial FNC|aconitase 2 |citrate metabolism ; GO:0006101 |tricarboxylic acid cycle ; GO:0006099 |energy pathways ; GO:0006091 REAB|Aconitase 2 is an enzyme of the TCA cycle and is encoded in the nucleus and active |within the mitochondrion. Aconitase catalyzes the interconversion of citrate to |isocitrate via cis-aconitate in the second step of the TCA cycle. Isoforms of ACO2 |have been reported but are not well characterized. CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=300463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=50[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118961 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001098 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001098 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=300463 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00020 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00630 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00720 DBL|UNIGENE:Hs.300463 |OMIM:100850 |SNP:50 ENZ|EC:4.2.1.3 |aconitate hydratase activity ; GO:0003994 |iron ion binding ; GO:0005506 |lyase activity ; GO:0016829 MAP|22q11.2-q13.31 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Aco2; score == 1518; expect == 0.0; MEOW:MGgn0000061 (96%) |species == rat; score == 1505; expect == 0.0; MEOW:ref|NP_077374.1| (95%) |species == Human; gene == LOC343508; score == 1296; expect == 0.0; MEOW:HUgn0343508 (85%) |species == Mosquito; score == 1147; expect == 0.0; MEOW:AGgn0018525 (74%) |species == Worm; gene == aco-2; score == 1129; expect == 0.0; MEOW:CEgn0037206 (75%) |species == Fruitfly; gene == CG4706; score == 1074; expect == 0.0; MEOW:FBgn0037862 (70%) |species == Yeast; gene == ACO1; score == 1026; expect == 0.0; MEOW:SGgn0004295 (67%) |species == Weed; gene == At4g26970; score == 204; expect == 1.6e-52; MEOW:ATgn0018182 (28%) |species == rice; score == 200; expect == 6.5e-51; MEOW:gnl|TIGR|8356.m00870 (27%) |species == Weed; gene == At2g05710; score == 195; expect == 7.3e-50; MEOW:ATgn0009667 (27%) |species == ecoli; score == 188; expect == 1.0e-48; MEOW:ref|NP_415792.1| (27%) |species == ecoli; score == 160; expect == 3.3e-39; MEOW:ref|NP_415292.1| (24%) } # EOR GENR { RETE|ID 1 HUgn0000051 CHR 1 17 DID 1 LocusLink:51 MAP 1 17q24-q25 NAM 1 acyl-Coenzyme A oxidase 1, palmitoyl ORG 1 Homo sapiens SYM 1 ACOX1 ID|HUgn0000051 DID|LocusLink:51 ORG|Homo sapiens RSQ|REFSEQ:NM_004035 |REFSEQ:NM_007292 RPA|REFPROT:NP_004026 |REFPROT:NP_009223 DBA|XM:NM_004035 |XM:NM_007292 |NA:U03254 |NA:U03268 |NA:BC008767 |NA:BC010425 |NA:BX537380 |NA:S69189 |NA:U07866 |NA:X71440 |NA:none PAC|XP:NP_004026 |XP:NP_009223 SYM|ACOX1 NAM|acyl-Coenzyme A oxidase 1, palmitoyl SYN|ACOX |MGC1198 |PALMCOX FNC|acyl-Coenzyme A oxidase isoform a |acyl-Coenzyme A oxidase isoform b |fatty acid beta-oxidation ; GO:0006635 |electron transport ; GO:0006118 |prostaglandin metabolism ; GO:0006693 |energy pathways ; GO:0006091 REAB|The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation |pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. ACOX1 |donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. |Defects in the ACOX1 gene result in pseudoneonatal adrenoleukodystrophy, a disease |that is characterized by accumulation of very long chain fatty acids. CHR|17 PRD|acyl-coenzyme A oxidase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=379991 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=51[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:282672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007292 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_007292 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=379991 |http://www.geneclinics.org/query?mim=264470 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 DBL|UNIGENE:Hs.379991 |OMIM:264470 |SNP:51 ENZ|EC:1.3.3.6 |acyl-CoA oxidase activity ; GO:0003997 |electron donor activity ; GO:0009053 |oxidoreductase activity ; GO:0016491 MAP|17q24-q25 PHP|Adrenoleukodystrophy, pseudoneonatal CEL|peroxisome ; GO:0005777 HG|species == rat; score == 1147; expect == 0.0; MEOW:ref|NP_059036.1| (85%) |species == Mouse; gene == Acox1; score == 1132; expect == 0.0; MEOW:MGgn0000062 (84%) |species == Human; gene == ACOX2; score == 545; expect == 2e-155; MEOW:HUgn0008309 (44%) |species == Mosquito; score == 542; expect == 2e-154; MEOW:AGgn0020032 (43%) |species == Weed; gene == At2g35690; score == 532; expect == 3e-151; MEOW:ATgn0007600 (43%) |species == Weed; gene == At4g16760; score == 532; expect == 3e-151; MEOW:ATgn0017917 (44%) |species == Fruitfly; gene == CG5009; score == 528; expect == 2e-150; MEOW:FBgn0027572 (43%) |species == rice; score == 524; expect == 1e-148; MEOW:gnl|TIGR|8354.m00035 (43%) |species == Mosquito; score == 516; expect == 7e-147; MEOW:AGgn0020118 (41%) |species == Worm; gene == F08A8.1; score == 513; expect == 1e-145; MEOW:CEgn0007842 (43%) |species == Worm; gene == F59F4.1; score == 504; expect == 4e-143; MEOW:CEgn0012572 (42%) |species == Worm; gene == F08A8.4; score == 493; expect == 1e-139; MEOW:CEgn0007845 (42%) |species == Worm; gene == F08A8.3; score == 491; expect == 5e-139; MEOW:CEgn0007844 (42%) |species == Worm; gene == F08A8.2; score == 475; expect == 2e-134; MEOW:CEgn0007843 (40%) |species == Worm; gene == C48B4.1; score == 452; expect == 2e-127; MEOW:CEgn0006692 (38%) |species == Fruitfly; gene == Acox57D-p; score == 449; expect == 2e-126; MEOW:FBgn0034628 (39%) |species == Fruitfly; gene == Acox57D-d; score == 438; expect == 3e-123; MEOW:FBgn0034629 (37%) |species == Fruitfly; gene == CG4586; score == 426; expect == 1e-119; MEOW:FBgn0029924 (38%) |species == Yeast; gene == POX1; score == 275; expect == 2.2e-74; MEOW:SGgn0003173 (28%) } # EOR GENR { RETE|ID 1 HUgn0000052 CHR 1 2 DID 1 LocusLink:52 MAP 1 2p25 NAM 1 acid phosphatase 1, soluble ORG 1 Homo sapiens SYM 1 ACP1 ID|HUgn0000052 DID|LocusLink:52 ORG|Homo sapiens RSQ|REFSEQ:NM_004300 |REFSEQ:NM_007099 |REFSEQ:NM_177554 RPA|REFPROT:NP_004291 |REFPROT:NP_009030 |REFPROT:NP_808222 DBA|XM:NM_004300 |XM:NM_007099 |XM:NM_177554 |NA:L06508 |NA:U25847 |NA:U25849 |NA:BC007422 |NA:BC020699 |NA:BI460080 |NA:M83653 |NA:M83654 |NA:M87545 |NA:M87546 |NA:S62884 |NA:S62885 |NA:Y16846 |NA:none PAC|XP:NP_004291 |XP:NP_009030 |XP:NP_808222 SYM|ACP1 NAM|acid phosphatase 1, soluble SYN|HAAP |MGC3499 FNC|acid phosphatase 1 isoform a |acid phosphatase 1 isoform b |acid phosphatase 1 isoform c REAB|The product of this gene belongs to the phosphotyrosine protein phosphatase family |of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase |by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. |This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. |This gene is genetically polymorphic, and three common alleles segregating at the |corresponding locus give rise to six phenotypes. Each allele appears to encode at |least two electrophoretically different isozymes, Bf and Bs, which are produced |in allele-specific ratios. Three transcript variants encoding distinct isoforms |have been identified for this gene. CHR|2 PRD|adipocyte acid phosphatase |red cell acid phosphatase 1 |protein tyrosine phosphatase |acid phosphatase of erythrocyte |cytoplasmic phosphotyrosyl protein phosphatase |low molecular weight phosphotyrosine protein phosphatase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=130873 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=52[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118962 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_177554 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_177554 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=130873 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04070 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.130873 |OMIM:171500 |SNP:52 ENZ|EC:3.1.3.2 |EC:3.1.3.48 |acid phosphatase activity ; GO:0003993 MAP|2p25 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == rat; score == 300; expect == 1.7e-82; MEOW:ref|NP_067085.1| (87%) |species == Mouse; gene == Acp1; score == 296; expect == 2.8e-81; MEOW:MGgn0000063 (86%) |species == rat; score == 276; expect == 4.4e-75; MEOW:ref|XP_237746.2| (80%) |species == rat; score == 258; expect == 1.2e-69; MEOW:ref|XP_234263.2| (82%) |species == rat; score == 242; expect == 7.0e-65; MEOW:ref|XP_222985.2| (71%) |species == Mosquito; gene == LOC11124; score == 146; expect == 4.0e-36; MEOW:AGgn0011124 (51%) |species == Fruitfly; gene == primo-1; score == 132; expect == 4.7e-32; MEOW:FBgn0040077 (46%) } # EOR GENR { RETE|ID 1 HUgn0000053 CHR 1 11 DID 1 LocusLink:53 MAP 1 11p11.2-p11.11 NAM 1 acid phosphatase 2, lysosomal ORG 1 Homo sapiens SYM 1 ACP2 ID|HUgn0000053 DID|LocusLink:53 ORG|Homo sapiens RSQ|REFSEQ:NM_001610 RPA|REFPROT:NP_001601 DBA|XM:NM_001610 |NA:X15525 |NA:AY007137 |NA:BC003160 |NA:X12548 |NA:none PAC|XP:NP_001601 SYM|ACP2 NAM|acid phosphatase 2, lysosomal FNC|lysosomal acid phosphatase 2 precursor REAB|Lysosomal acid phosphatase is comprised of two subunits, alpha and beta, and is chemically |and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase |2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric |monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations |in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75589 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=53[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118963 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001610 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001610 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75589 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24447 DBL|UNIGENE:Hs.75589 |OMIM:171650 |SNP:53 ENZ|EC:3.1.3.2 |acid phosphatase activity ; GO:0003993 |hydrolase activity ; GO:0016787 MAP|11p11.2-p11.11 CEL|lysosomal membrane ; GO:0005765 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Acp2; score == 767; expect == 0.0; MEOW:MGgn0000064 (89%) |species == rat; score == 759; expect == 0.0; MEOW:ref|NP_058684.1| (89%) |species == Human; gene == ACPP; score == 380; expect == 6e-106; MEOW:HUgn0000055 (51%) |species == Human; gene == ACPT; score == 316; expect == 1.8e-86; MEOW:HUgn0093650 (46%) |species == Fruitfly; gene == Acph-1; score == 232; expect == 3.5e-61; MEOW:FBgn0000032 (35%) |species == Mosquito; gene == LOC14917; score == 219; expect == 1.3e-57; MEOW:AGgn0014917 (36%) |species == Fruitfly; gene == CG9451; score == 204; expect == 5.8e-53; MEOW:FBgn0036876 (34%) |species == Worm; gene == B0361.7; score == 196; expect == 1.9e-50; MEOW:CEgn0003423 (32%) |species == Fruitfly; gene == CG9452; score == 194; expect == 6.0e-50; MEOW:FBgn0036877 (32%) |species == Mosquito; gene == LOC18380; score == 186; expect == 1.6e-47; MEOW:AGgn0018380 (34%) |species == Worm; gene == T13B5.3; score == 179; expect == 1.8e-45; MEOW:CEgn0016140 (33%) |species == Worm; gene == F52E1.8; score == 174; expect == 4.4e-44; MEOW:CEgn0011491 (31%) |species == Worm; gene == R13H4.3; score == 174; expect == 9.4e-44; MEOW:CEgn0014947 (33%) |species == Worm; gene == T21B6.2; score == 163; expect == 1.7e-40; MEOW:CEgn0016525 (30%) } # EOR GENR { RETE|ID 1 HUgn0000054 CHR 1 19 DID 1 LocusLink:54 MAP 1 19p13.3-p13.2 NAM 1 acid phosphatase 5, tartrate resistant ORG 1 Homo sapiens SYM 1 ACP5 ID|HUgn0000054 DID|LocusLink:54 ORG|Homo sapiens RSQ|REFSEQ:NM_001611 RPA|REFPROT:NP_001602 DBA|XM:NM_001611 |NA:X67123 |NA:BC025414 |NA:J04430 |NA:X14618 |NA:none PAC|XP:NP_001602 SYM|ACP5 NAM|acid phosphatase 5, tartrate resistant SYN|TRAP FNC|tartrate resistant acid phosphatase 5 precursor REAB|Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion |of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic |of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1211 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=54[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118747 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001611 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001611 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1211 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.1211 |OMIM:171640 |SNP:54 ENZ|EC:3.1.3.2 |acid phosphatase activity ; GO:0003993 |hydrolase activity ; GO:0016787 MAP|19p13.3-p13.2 CEL|lysosome ; GO:0005764 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Acp5; score == 568; expect == 1e-162; MEOW:MGgn0000065 (85%) |species == Worm; gene == F02E9.7; score == 213; expect == 1.6e-55; MEOW:CEgn0007737 (36%) } # EOR GENR { RETE|ID 1 HUgn0000055 CHR 1 3 DID 1 LocusLink:55 MAP 1 3q21-q23 NAM 1 acid phosphatase, prostate ORG 1 Homo sapiens SYM 1 ACPP ID|HUgn0000055 DID|LocusLink:55 ORG|Homo sapiens RSQ|REFSEQ:NM_001099 RPA|REFPROT:NP_001090 DBA|XM:NM_001099 |NA:M97589 |NA:U07086 |NA:U07097 |NA:BC007460 |NA:BC008493 |NA:BC016344 |NA:BC017877 |NA:M24902 |NA:M34840 |NA:X52174 |NA:X53605 |NA:none PAC|XP:NP_001090 SYM|ACPP NAM|acid phosphatase, prostate SYN|PAP FNC|prostatic acid phosphatase precursor REAB|Prostatic acid phosphatase precursor catalyzes the conversion of orthophosphoric |monoester to alcohol and orthophosphate. ACPP is synthesized under androgen regulation |and secreted by the epithelial cells of the prostrate gland. Sequence comparison |has indicated the presence of several polymorphisms. ACPP undergoes alternative |splicing in the 3' UTR. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388677 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=55[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001099 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001099 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388677 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00740 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00361 DBL|UNIGENE:Hs.388677 |OMIM:171790 |SNP:55 ENZ|EC:3.1.3.2 MAP|3q21-q23 HG|species == Mouse; gene == Acpp; score == 594; expect == 2e-170; MEOW:MGgn0015009 (83%) |species == rat; score == 573; expect == 7e-164; MEOW:ref|NP_064457.1| (79%) |species == Human; gene == ACP2; score == 380; expect == 6e-106; MEOW:HUgn0000053 (51%) |species == Fruitfly; gene == Acph-1; score == 240; expect == 1.7e-63; MEOW:FBgn0000032 (37%) |species == Mosquito; gene == LOC14917; score == 233; expect == 1.0e-61; MEOW:AGgn0014917 (38%) |species == Worm; gene == B0361.7; score == 192; expect == 2.4e-49; MEOW:CEgn0003423 (32%) |species == Worm; gene == R13H4.3; score == 180; expect == 1.0e-45; MEOW:CEgn0014947 (29%) |species == Worm; gene == T21B6.2; score == 180; expect == 1.3e-45; MEOW:CEgn0016525 (31%) |species == Worm; gene == T13B5.3; score == 175; expect == 5.2e-44; MEOW:CEgn0016140 (32%) |species == Worm; gene == F52E1.8; score == 164; expect == 6.6e-41; MEOW:CEgn0011491 (32%) } # EOR GENR { RETE|ID 1 HUgn0000056 CHR 1 11 DID 1 LocusLink:56 MAP 1 11p12-q13 NAM 1 acrosomal vesicle protein 1 ORG 1 Homo sapiens SYM 1 ACRV1 ID|HUgn0000056 DID|LocusLink:56 ORG|Homo sapiens RSQ|REFSEQ:NM_001612 |REFSEQ:NM_020069 |REFSEQ:NM_020107 |REFSEQ:NM_020108 |REFSEQ:NM_020109 |REFSEQ:NM_020110 |REFSEQ:NM_020111 |REFSEQ:NM_020112 |REFSEQ:NM_020113 |REFSEQ:NM_020114 |REFSEQ:NM_020115 RPA|REFPROT:NP_001603 |REFPROT:NP_064454 |REFPROT:NP_064492 |REFPROT:NP_064493 |REFPROT:NP_064494 |REFPROT:NP_064495 |REFPROT:NP_064496 |REFPROT:NP_064497 |REFPROT:NP_064498 |REFPROT:NP_064499 |REFPROT:NP_064500 DBA|XM:NM_001612 |XM:NM_020069 |XM:NM_020107 |XM:NM_020108 |XM:NM_020109 |XM:NM_020110 |XM:NM_020111 |XM:NM_020112 |XM:NM_020113 |XM:NM_020114 |XM:NM_020115 |NA:S65576 |NA:S65578 |NA:S65583 |NA:S65606 |NA:BC014588 |NA:H93373 |NA:M82967 |NA:M82968 |NA:none PAC|XP:NP_001603 |XP:NP_064454 |XP:NP_064492 |XP:NP_064493 |XP:NP_064494 |XP:NP_064495 |XP:NP_064496 |XP:NP_064497 |XP:NP_064498 |XP:NP_064499 |XP:NP_064500 SYM|ACRV1 NAM|acrosomal vesicle protein 1 SYN|SPACA2 |D11S4365 FNC|acrosomal vesicle protein 1 isoform a precursor |acrosomal vesicle protein 1 isoform b precursor |acrosomal vesicle protein 1 isoform c precursor |acrosomal vesicle protein 1 isoform d precursor |acrosomal vesicle protein 1 isoform e precursor |acrosomal vesicle protein 1 isoform f precursor |acrosomal vesicle protein 1 isoform g precursor |acrosomal vesicle protein 1 isoform h precursor |acrosomal vesicle protein 1 isoform i precursor |acrosomal vesicle protein 1 isoform j precursor |acrosomal vesicle protein 1 isoform k precursor |development ; GO:0007275 REAB|This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein |1, that arises within the acrosomal vesicle during spermatogenesis, and is associated |with the acrosomal membranes and matrix of mature sperm. This gene consists of 4 |exons and its alternative splicing generates 11 distinct transcripts, which encode |protein isoforms ranging from 81 to 265 amino acids. The longest transcript is the |most abundant, comprising 53-72% of the total acrosomal vesicle protein 1 messages; |the second largest transcript comprises 15-32%; the third and the fourth largest |transcripts account for 3.4-8.3% and 8.7-12.5%, respectively; and the remaining |7 transcripts combined account for < 1% of the total acrosomal vesicle protein 1 |message. It is suggested that phenomena of cryptic splicing and exon skipping occur |within this gene. The acrosomal vesicle protein 1 may be involved in sperm-zona |binding or penetration, and it is a potential contraceptive vaccine immunogen for |humans. CHR|11 PRD|SP-10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=169222 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=56[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127969 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001612 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001612 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=169222 DBL|UNIGENE:Hs.169222 |OMIM:102525 |SNP:56 MAP|11p12-q13 HG|species == rat; score == 285; expect == 1.4e-77; MEOW:ref|NP_068515.1| (62%) |species == Mouse; gene == Acrv1; score == 281; expect == 1.7e-76; MEOW:MGgn0000083 (61%) } # EOR GENR { RETE|ID 1 HUgn0000058 CHR 1 1 DID 1 LocusLink:58 MAP 1 1q42.13-q42.2 NAM 1 actin, alpha 1, skeletal muscle ORG 1 Homo sapiens SYM 1 ACTA1 ID|HUgn0000058 DID|LocusLink:58 ORG|Homo sapiens RSQ|REFSEQ:NM_001100 RPA|REFPROT:NP_001091 DBA|XM:NM_001100 |NA:M20543 |NA:AK096902 |NA:BC012597 |NA:BX648545 |NA:J00068 |NA:none PAC|XP:NP_001091 SYM|ACTA1 NAM|actin, alpha 1, skeletal muscle SYN|ACTA |ASMA |NEM1 |NEM2 FNC|alpha 1 actin precursor |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|Actin alpha 1 which is expressed in skeletal muscle is one of six different actin |isoforms which have been identified. Actins are highly conserved proteins that |are involved in cell motility, structure and integrity. Alpha actins are a major |constituent of the contractile apparatus. CHR|1 PRD|alpha skeletal muscle actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1288 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=58[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120535 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001100 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001100 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1288 |http://www.geneclinics.org/query?mim=102610 DBL|UNIGENE:Hs.1288 |OMIM:102610 |SNP:58 MAP|1q42.13-q42.2 PHP|Myopathy, actin |Myopathy, nemaline, 161800 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Acta1; score == 765; expect == 0.0; MEOW:MGgn0000091 (100%) |species == rat; score == 765; expect == 0.0; MEOW:ref|NP_062085.1| (100%) |species == Human; gene == ACTC; score == 760; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Mouse; gene == Actc1; score == 760; expect == 0.0; MEOW:MGgn0000096 (98%) |species == Zfish; gene == acta1; score == 758; expect == 0.0; MEOW:ZFgn0000929 (98%) |species == Human; gene == ACTA2; score == 753; expect == 0.0; MEOW:HUgn0000059 (97%) |species == Mouse; gene == Acta2; score == 753; expect == 0.0; MEOW:MGgn0000107 (97%) |species == Human; gene == ACTG2; score == 748; expect == 0.0; MEOW:HUgn0000072 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_037025.1| (98%) |species == rat; score == 744; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-4; score == 726; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Worm; gene == act-1; score == 725; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-2; score == 725; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 725; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Mosquito; gene == LOC19055; score == 723; expect == 0.0; MEOW:AGgn0019055 (93%) |species == Fruitfly; gene == Act5C; score == 723; expect == 0.0; MEOW:FBgn0000042 (93%) |species == Fruitfly; gene == Act42A; score == 723; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTG1; score == 721; expect == 0.0; MEOW:HUgn0000071 (93%) |species == Mouse; gene == Actg; score == 721; expect == 0.0; MEOW:MGgn0000097 (93%) |species == Human; gene == ACTB; score == 720; expect == 0.0; MEOW:HUgn0000060 (93%) |species == Mouse; gene == Actb; score == 720; expect == 0.0; MEOW:MGgn0000093 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_112406.1| (93%) |species == Fruitfly; gene == Act87E; score == 718; expect == 0.0; MEOW:FBgn0000046 (93%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Fruitfly; gene == Act57B; score == 715; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act88F; score == 714; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC15027; score == 713; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Mosquito; gene == LOC15039; score == 712; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 712; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 709; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 701; expect == 0.0; MEOW:ref|XP_213540.2| (92%) |species == rat; score == 701; expect == 0.0; MEOW:ref|XP_215761.2| (92%) |species == Worm; gene == act-5; score == 699; expect == 0.0; MEOW:CEgn0000032 (90%) |species == Mouse; gene == 4732495G21Rik; score == 695; expect == 0.0; MEOW:MGgn0040763 (89%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Mosquito; gene == LOC22175; score == 691; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Weed; gene == At3g12110; score == 691; expect == 0.0; MEOW:ATgn0016066 (87%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (88%) |species == Mosquito; score == 689; expect == 0.0; MEOW:AGgn0015031 (88%) |species == Weed; gene == At2g37620; score == 689; expect == 0.0; MEOW:ATgn0008857 (87%) |species == Weed; gene == At3g53750; score == 689; expect == 0.0; MEOW:ATgn0013219 (87%) |species == rat; score == 689; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == rice; score == 688; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == Mosquito; score == 686; expect == 0.0; MEOW:AGgn0016397 (87%) |species == Human; gene == LOC345651; score == 686; expect == 0.0; MEOW:HUgn0345651 (87%) |species == Weed; gene == At5g09810; score == 685; expect == 0.0; MEOW:ATgn0022752 (87%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (86%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (86%) |species == rat; score == 680; expect == 0.0; MEOW:ref|XP_213911.2| (90%) |species == Weed; gene == At1g49240; score == 679; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Weed; gene == At5g59370; score == 679; expect == 0.0; MEOW:ATgn0025880 (86%) |species == Weed; gene == At3g46520; score == 678; expect == 0.0; MEOW:ATgn0013457 (86%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == rice; score == 677; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (84%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (87%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == rice; score == 670; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC375275; score == 669; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 668; expect == 0.0; MEOW:HUgn0129439 (86%) |species == Human; gene == LOC375273; score == 665; expect == 0.0; MEOW:HUgn0375273 (86%) |species == rice; score == 657; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (89%) |species == Mouse; gene == Actg2; score == 648; expect == 0.0; MEOW:MGgn0000100 (98%) |species == Weed; gene == At2g42100; score == 638; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Weed; gene == At3g18780; score == 638; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Mosquito; gene == LOC22306; score == 602; expect == 6e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000059 CHR 1 10 DID 1 LocusLink:59 MAP 1 10q23.3 NAM 1 actin, alpha 2, smooth muscle, aorta ORG 1 Homo sapiens SYM 1 ACTA2 ID|HUgn0000059 DID|LocusLink:59 ORG|Homo sapiens RSQ|REFSEQ:NM_001613 RPA|REFPROT:NP_001604 DBA|XM:NM_001613 |NA:D00618 |NA:K01741 |NA:K01742 |NA:K01743 |NA:K01744 |NA:K01745 |NA:K01746 |NA:K01747 |NA:M33216 |NA:BC017554 |NA:J05192 |NA:X13839 |NA:none PAC|XP:NP_001604 SYM|ACTA2 NAM|actin, alpha 2, smooth muscle, aorta SYN|ACTSA FNC|alpha 2 actin |muscle development ; GO:0007517 REAB|Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different |actin isoforms which have been identified. Actins are highly conserved proteins |that are involved in cell motility, structure and integrity. Alpha actins are a |major constituent of the contractile apparatus. CHR|10 PRD|alpha-cardiac actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=208641 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=59[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125197 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001613 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001613 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=208641 DBL|UNIGENE:Hs.208641 |OMIM:102620 |SNP:59 MAP|10q23.3 ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 |striated muscle thin filament ; GO:0005865 HG|species == Mouse; gene == Acta2; score == 765; expect == 0.0; MEOW:MGgn0000107 (100%) |species == Human; gene == ACTC; score == 755; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Human; gene == ACTG2; score == 755; expect == 0.0; MEOW:HUgn0000072 (99%) |species == Mouse; gene == Actc1; score == 755; expect == 0.0; MEOW:MGgn0000096 (98%) |species == rat; score == 755; expect == 0.0; MEOW:ref|NP_037025.1| (99%) |species == Human; gene == ACTA1; score == 753; expect == 0.0; MEOW:HUgn0000058 (97%) |species == Mouse; gene == Acta1; score == 753; expect == 0.0; MEOW:MGgn0000091 (97%) |species == rat; score == 753; expect == 0.0; MEOW:ref|NP_062085.1| (97%) |species == Zfish; gene == acta1; score == 750; expect == 0.0; MEOW:ZFgn0000929 (97%) |species == rat; score == 740; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-2; score == 727; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-4; score == 726; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Mosquito; gene == LOC19055; score == 725; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Worm; gene == act-1; score == 725; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-3; score == 725; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Fruitfly; gene == Act5C; score == 725; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 725; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTB; score == 724; expect == 0.0; MEOW:HUgn0000060 (94%) |species == Human; gene == ACTG1; score == 724; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actb; score == 724; expect == 0.0; MEOW:MGgn0000093 (94%) |species == Mouse; gene == Actg; score == 724; expect == 0.0; MEOW:MGgn0000097 (94%) |species == rat; score == 724; expect == 0.0; MEOW:ref|NP_112406.1| (94%) |species == Fruitfly; gene == Act88F; score == 717; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Mosquito; gene == LOC15027; score == 716; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Fruitfly; gene == Act87E; score == 716; expect == 0.0; MEOW:FBgn0000046 (92%) |species == Mosquito; gene == LOC15039; score == 715; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Mosquito; gene == LOC22308; score == 715; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act57B; score == 713; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act79B; score == 712; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 703; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mosquito; score == 696; expect == 0.0; MEOW:AGgn0015031 (89%) |species == Mouse; gene == 4732495G21Rik; score == 696; expect == 0.0; MEOW:MGgn0040763 (89%) |species == Mosquito; gene == LOC22175; score == 694; expect == 0.0; MEOW:AGgn0022175 (89%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == rice; score == 690; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (88%) |species == Weed; gene == At3g12110; score == 689; expect == 0.0; MEOW:ATgn0016066 (87%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (87%) |species == Mosquito; score == 688; expect == 0.0; MEOW:AGgn0016397 (88%) |species == Weed; gene == At2g37620; score == 688; expect == 0.0; MEOW:ATgn0008857 (87%) |species == Weed; gene == At3g53750; score == 688; expect == 0.0; MEOW:ATgn0013219 (87%) |species == rice; score == 687; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == Weed; gene == At5g09810; score == 684; expect == 0.0; MEOW:ATgn0022752 (88%) |species == rat; score == 684; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == Weed; gene == At5g59370; score == 677; expect == 0.0; MEOW:ATgn0025880 (86%) |species == Weed; gene == At1g49240; score == 676; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Weed; gene == At3g46520; score == 676; expect == 0.0; MEOW:ATgn0013457 (86%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (87%) |species == rice; score == 674; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == Human; gene == LOC375275; score == 672; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 671; expect == 0.0; MEOW:HUgn0129439 (86%) |species == rice; score == 669; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC375273; score == 668; expect == 0.0; MEOW:HUgn0375273 (86%) |species == Mouse; gene == Actg2; score == 653; expect == 0.0; MEOW:MGgn0000100 (99%) |species == rice; score == 652; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (88%) |species == Human; gene == LOC376953; score == 641; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At3g18780; score == 636; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Weed; gene == At2g42100; score == 632; expect == 0.0; MEOW:ATgn0007667 (78%) |species == Human; gene == LOC343354; score == 611; expect == 2e-175; MEOW:HUgn0343354 (80%) |species == Mosquito; gene == LOC22306; score == 604; expect == 2e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000060 CHR 1 7 DID 1 LocusLink:60 MAP 1 7p15-p12 NAM 1 actin, beta ORG 1 Homo sapiens SYM 1 ACTB ID|HUgn0000060 DID|LocusLink:60 ORG|Homo sapiens RSQ|REFSEQ:NM_001101 RPA|REFPROT:NP_001092 DBA|XM:NM_001101 |XM:NM_001101 |NA:M10277 |NA:AK025375 |NA:AK058019 |NA:AK098751 |NA:AK125561 |NA:AK130062 |NA:AK130157 |NA:BC001301 |NA:BC002409 |NA:BC004251 |NA:BC008633 |NA:BC009636 |NA:BC012854 |NA:BC013380 |NA:BC013835 |NA:BC014401 |NA:BC014861 |NA:BC016045 |NA:BC023204 |NA:BC053988 |NA:K00790 |NA:X00351 |NA:X63432 |NA:none PAC|XP:NP_001092 |XP:NP_001092 SYM|ACTB NAM|actin, beta FNC|beta actin |cell motility ; GO:0006928 REAB|Beta actin is one of six different actin isoforms which have been identified. ACTB |is one of the two nonmuscle cytoskeletal actins. Actins are highly conserved proteins |that are involved in cell motility, structure and integrity. Alpha actins are a |major constituent of the contractile apparatus. CHR|7 PRD|beta cytoskeletal actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=426930 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=60[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118964 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001101 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001101 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=426930 DBL|UNIGENE:Hs.426930 |OMIM:102630 |SNP:60 MAP|7p15-p12 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actb; score == 759; expect == 0.0; MEOW:MGgn0000093 (100%) |species == rat; score == 759; expect == 0.0; MEOW:ref|NP_112406.1| (100%) |species == Human; gene == ACTG1; score == 754; expect == 0.0; MEOW:HUgn0000071 (98%) |species == Mouse; gene == Actg; score == 754; expect == 0.0; MEOW:MGgn0000097 (98%) |species == Mosquito; gene == LOC19055; score == 749; expect == 0.0; MEOW:AGgn0019055 (98%) |species == Worm; gene == act-2; score == 749; expect == 0.0; MEOW:CEgn0000029 (98%) |species == Fruitfly; gene == Act5C; score == 749; expect == 0.0; MEOW:FBgn0000042 (98%) |species == Worm; gene == act-4; score == 747; expect == 0.0; MEOW:CEgn0000031 (97%) |species == Fruitfly; gene == Act42A; score == 747; expect == 0.0; MEOW:FBgn0000043 (97%) |species == Worm; gene == act-1; score == 746; expect == 0.0; MEOW:CEgn0000028 (97%) |species == Worm; gene == act-3; score == 746; expect == 0.0; MEOW:CEgn0000030 (97%) |species == Mosquito; gene == LOC9996; score == 742; expect == 0.0; MEOW:AGgn0009996 (96%) |species == Mosquito; gene == LOC15039; score == 738; expect == 0.0; MEOW:AGgn0015039 (96%) |species == Mosquito; gene == LOC16398; score == 738; expect == 0.0; MEOW:AGgn0016398 (95%) |species == Mosquito; gene == LOC22308; score == 738; expect == 0.0; MEOW:AGgn0022308 (96%) |species == Fruitfly; gene == Act87E; score == 738; expect == 0.0; MEOW:FBgn0000046 (95%) |species == Fruitfly; gene == Act88F; score == 737; expect == 0.0; MEOW:FBgn0000047 (95%) |species == Fruitfly; gene == Act57B; score == 736; expect == 0.0; MEOW:FBgn0000044 (95%) |species == Mosquito; gene == LOC15027; score == 734; expect == 0.0; MEOW:AGgn0015027 (96%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_213540.2| (97%) |species == rat; score == 733; expect == 0.0; MEOW:ref|XP_215761.2| (97%) |species == Fruitfly; gene == Act79B; score == 726; expect == 0.0; MEOW:FBgn0000045 (94%) |species == Human; gene == ACTA2; score == 724; expect == 0.0; MEOW:HUgn0000059 (94%) |species == Mouse; gene == Acta2; score == 724; expect == 0.0; MEOW:MGgn0000107 (94%) |species == Human; gene == ACTC; score == 722; expect == 0.0; MEOW:HUgn0000070 (94%) |species == Mouse; gene == Actc1; score == 722; expect == 0.0; MEOW:MGgn0000096 (94%) |species == Human; gene == ACTA1; score == 720; expect == 0.0; MEOW:HUgn0000058 (93%) |species == Human; gene == ACTG2; score == 720; expect == 0.0; MEOW:HUgn0000072 (93%) |species == Mouse; gene == Acta1; score == 720; expect == 0.0; MEOW:MGgn0000091 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_037025.1| (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_062085.1| (93%) |species == Mouse; gene == 4732495G21Rik; score == 719; expect == 0.0; MEOW:MGgn0040763 (92%) |species == Worm; gene == act-5; score == 717; expect == 0.0; MEOW:CEgn0000032 (93%) |species == Zfish; gene == acta1; score == 717; expect == 0.0; MEOW:ZFgn0000929 (93%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_226755.1| (92%) |species == rat; score == 713; expect == 0.0; MEOW:ref|XP_213911.2| (95%) |species == Human; gene == LOC345651; score == 711; expect == 0.0; MEOW:HUgn0345651 (91%) |species == Mosquito; score == 710; expect == 0.0; MEOW:AGgn0015031 (91%) |species == Mosquito; gene == LOC22175; score == 708; expect == 0.0; MEOW:AGgn0022175 (92%) |species == Mosquito; score == 706; expect == 0.0; MEOW:AGgn0016397 (91%) |species == rat; score == 706; expect == 0.0; MEOW:ref|XP_215801.2| (92%) |species == Human; gene == LOC375275; score == 703; expect == 0.0; MEOW:HUgn0375275 (92%) |species == Human; gene == LOC129439; score == 702; expect == 0.0; MEOW:HUgn0129439 (91%) |species == Human; gene == LOC375273; score == 699; expect == 0.0; MEOW:HUgn0375273 (91%) |species == rice; score == 697; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (90%) |species == Yeast; gene == ACT1; score == 696; expect == 0.0; MEOW:SGgn0001855 (88%) |species == Weed; gene == At3g12110; score == 695; expect == 0.0; MEOW:ATgn0016066 (90%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (90%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (89%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (89%) |species == rice; score == 690; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (90%) |species == Weed; gene == At5g09810; score == 688; expect == 0.0; MEOW:ATgn0022752 (90%) |species == Weed; gene == At5g59370; score == 684; expect == 0.0; MEOW:ATgn0025880 (89%) |species == Weed; gene == At3g46520; score == 683; expect == 0.0; MEOW:ATgn0013457 (89%) |species == Human; gene == LOC344227; score == 682; expect == 0.0; MEOW:HUgn0344227 (91%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (88%) |species == Weed; gene == At1g49240; score == 681; expect == 0.0; MEOW:ATgn0000853 (87%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (89%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (88%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (87%) |species == rice; score == 678; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (87%) |species == Human; gene == LOC376953; score == 672; expect == 0.0; MEOW:HUgn0376953 (91%) |species == rice; score == 657; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (91%) |species == Human; gene == LOC343354; score == 645; expect == 0.0; MEOW:HUgn0343354 (86%) |species == Weed; gene == At3g18780; score == 642; expect == 0.0; MEOW:ATgn0016446 (86%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Mouse; gene == Actg2; score == 620; expect == 2e-178; MEOW:MGgn0000100 (92%) |species == Mosquito; gene == LOC22306; score == 619; expect == 4e-178; MEOW:AGgn0022306 (92%) } # EOR GENR { RETE|ID 1 HUgn0000061 CHR 1 X DID 1 LocusLink:61 MAP 1 Xq13-q22 NAM 1 actin, beta pseudogene 1 ORG 1 Homo sapiens SYM 1 ACTBP1 ID|HUgn0000061 DID|LocusLink:61 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP1 NAM|actin, beta pseudogene 1 CHR|X MAP|Xq13-q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118965 } # EOR GENR { RETE|ID 1 HUgn0000062 CHR 1 5 DID 1 LocusLink:62 MAP 1 5q14.1 NAM 1 actin, beta pseudogene 2 ORG 1 Homo sapiens SYM 1 ACTBP2 ID|HUgn0000062 DID|LocusLink:62 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC035147 SYM|ACTBP2 NAM|actin, beta pseudogene 2 CHR|5 MAP|5q14.1 DBL|SNP:62 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118966 } # EOR GENR { RETE|ID 1 HUgn0000063 CHR 1 18 DID 1 LocusLink:63 MAP 1 18 NAM 1 actin, beta pseudogene 3 ORG 1 Homo sapiens SYM 1 ACTBP3 ID|HUgn0000063 DID|LocusLink:63 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP3 NAM|actin, beta pseudogene 3 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118967 } # EOR GENR { RETE|ID 1 HUgn0000064 CHR 1 5 DID 1 LocusLink:64 MAP 1 5 NAM 1 actin, beta pseudogene 4 ORG 1 Homo sapiens SYM 1 ACTBP4 ID|HUgn0000064 DID|LocusLink:64 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC008695 SYM|ACTBP4 NAM|actin, beta pseudogene 4 CHR|5 MAP|5 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118968 } # EOR GENR { RETE|ID 1 HUgn0000065 CHR 1 7 DID 1 LocusLink:65 MAP 1 7q22-qter NAM 1 actin, beta pseudogene 5 ORG 1 Homo sapiens SYM 1 ACTBP5 ID|HUgn0000065 DID|LocusLink:65 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP5 NAM|actin, beta pseudogene 5 CHR|7 MAP|7q22-qter URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118969 } # EOR GENR { RETE|ID 1 HUgn0000066 CHR 1 8 DID 1 LocusLink:66 MAP 1 8 NAM 1 actin, beta pseudogene 6 ORG 1 Homo sapiens SYM 1 ACTBP6 ID|HUgn0000066 DID|LocusLink:66 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP6 NAM|actin, beta pseudogene 6 CHR|8 MAP|8 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119646 } # EOR GENR { RETE|ID 1 HUgn0000067 CHR 1 15 DID 1 LocusLink:67 MAP 1 15q15.1 NAM 1 actin, beta pseudogene 7 ORG 1 Homo sapiens SYM 1 ACTBP7 ID|HUgn0000067 DID|LocusLink:67 CLA|Pseudogene ORG|Homo sapiens DBA|NA:V00479 SYM|ACTBP7 NAM|actin, beta pseudogene 7 CHR|15 MAP|15q15.1 DBL|SNP:67 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681516 } # EOR GENR { RETE|ID 1 HUgn0000068 CHR 1 6 DID 1 LocusLink:68 MAP 1 6q13 NAM 1 actin, beta pseudogene 8 ORG 1 Homo sapiens SYM 1 ACTBP8 ID|HUgn0000068 DID|LocusLink:68 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL139042 |NA:V00481 SYM|ACTBP8 NAM|actin, beta pseudogene 8 SYN|ACTBP2 CHR|6 MAP|6q13 DBL|SNP:68 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681514 } # EOR GENR { RETE|ID 1 HUgn0000069 CHR 1 18 DID 1 LocusLink:69 MAP 1 18 NAM 1 actin, beta pseudogene 9 ORG 1 Homo sapiens SYM 1 ACTBP9 ID|HUgn0000069 DID|LocusLink:69 CLA|Pseudogene ORG|Homo sapiens SYM|ACTBP9 NAM|actin, beta pseudogene 9 CHR|18 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:700051 } # EOR GENR { RETE|ID 1 HUgn0000070 CHR 1 15 DID 1 LocusLink:70 MAP 1 15q11-q14 NAM 1 actin, alpha, cardiac muscle ORG 1 Homo sapiens SYM 1 ACTC ID|HUgn0000070 DID|LocusLink:70 ORG|Homo sapiens RSQ|REFSEQ:NM_005159 RPA|REFPROT:NP_005150 DBA|XM:NM_005159 |NA:J00070 |NA:J00071 |NA:J00072 |NA:J00073 |NA:AK056592 |NA:AK129892 |NA:AK129902 |NA:BC009978 |NA:none PAC|XP:NP_005150 SYM|ACTC NAM|actin, alpha, cardiac muscle FNC|actin, alpha, cardiac muscle precursor |regulation of heart rate ; GO:0008016 |muscle development ; GO:0007517 |muscle contraction ; GO:0006936 REAB|The protein encoded by this gene belongs to the actin family which is comprised of |six isoforms in vertebrates, including four muscle types and two non-muscle types. |The alpha actins are found in muscle tissues and are a major constituent of the |contractile apparatus. These highly conserved proteins are ubiquitously expressed |in all eukaryotic cells and are involved in various types of cell motility. Nucleotide |substitutions are associated with idiopathic dilated cardiomyopathy and familial |hypertrophic cardiomyopathy. CHR|15 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=118127 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=70[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118970 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005159 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005159 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118127 |http://www.geneclinics.org/query?mim=102540 DBL|UNIGENE:Hs.118127 |OMIM:102540 |SNP:70 |UWCM:118970.html MAP|15q11-q14 PHP|Cardiomyopathy, dilated |Cardiomyopathy, familial hypertrophic ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actc1; score == 764; expect == 0.0; MEOW:MGgn0000096 (100%) |species == Human; gene == ACTA1; score == 760; expect == 0.0; MEOW:HUgn0000058 (98%) |species == Mouse; gene == Acta1; score == 760; expect == 0.0; MEOW:MGgn0000091 (98%) |species == Zfish; gene == acta1; score == 760; expect == 0.0; MEOW:ZFgn0000929 (98%) |species == rat; score == 760; expect == 0.0; MEOW:ref|NP_062085.1| (98%) |species == Human; gene == ACTA2; score == 755; expect == 0.0; MEOW:HUgn0000059 (98%) |species == Mouse; gene == Acta2; score == 755; expect == 0.0; MEOW:MGgn0000107 (98%) |species == Human; gene == ACTG2; score == 750; expect == 0.0; MEOW:HUgn0000072 (98%) |species == rat; score == 750; expect == 0.0; MEOW:ref|NP_037025.1| (98%) |species == rat; score == 749; expect == 0.0; MEOW:ref|XP_215801.2| (97%) |species == Worm; gene == act-4; score == 728; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Worm; gene == act-1; score == 727; expect == 0.0; MEOW:CEgn0000028 (94%) |species == Worm; gene == act-2; score == 727; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 727; expect == 0.0; MEOW:CEgn0000030 (94%) |species == Mosquito; gene == LOC19055; score == 725; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Fruitfly; gene == Act5C; score == 725; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 725; expect == 0.0; MEOW:FBgn0000043 (94%) |species == Human; gene == ACTG1; score == 723; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actg; score == 723; expect == 0.0; MEOW:MGgn0000097 (94%) |species == Human; gene == ACTB; score == 722; expect == 0.0; MEOW:HUgn0000060 (94%) |species == Mouse; gene == Actb; score == 722; expect == 0.0; MEOW:MGgn0000093 (94%) |species == rat; score == 722; expect == 0.0; MEOW:ref|NP_112406.1| (94%) |species == Fruitfly; gene == Act87E; score == 718; expect == 0.0; MEOW:FBgn0000046 (93%) |species == Mosquito; gene == LOC9996; score == 716; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Fruitfly; gene == Act88F; score == 716; expect == 0.0; MEOW:FBgn0000047 (93%) |species == Mosquito; gene == LOC16398; score == 715; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Fruitfly; gene == Act57B; score == 715; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Mosquito; gene == LOC15027; score == 714; expect == 0.0; MEOW:AGgn0015027 (93%) |species == Mosquito; gene == LOC15039; score == 714; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 714; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 711; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 703; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 701; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mouse; gene == 4732495G21Rik; score == 697; expect == 0.0; MEOW:MGgn0040763 (89%) |species == rice; score == 694; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (89%) |species == rice; score == 694; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Mosquito; score == 693; expect == 0.0; MEOW:AGgn0015031 (89%) |species == Mosquito; gene == LOC22175; score == 693; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Weed; gene == At3g12110; score == 693; expect == 0.0; MEOW:ATgn0016066 (88%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (88%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (88%) |species == rice; score == 691; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (89%) |species == Weed; gene == At5g09810; score == 689; expect == 0.0; MEOW:ATgn0022752 (88%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (88%) |species == Mosquito; score == 688; expect == 0.0; MEOW:AGgn0016397 (88%) |species == rice; score == 684; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == Weed; gene == At5g59370; score == 682; expect == 0.0; MEOW:ATgn0025880 (87%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == rat; score == 682; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == Weed; gene == At3g46520; score == 681; expect == 0.0; MEOW:ATgn0013457 (87%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (88%) |species == Weed; gene == At1g49240; score == 679; expect == 0.0; MEOW:ATgn0000853 (85%) |species == Yeast; gene == ACT1; score == 679; expect == 0.0; MEOW:SGgn0001855 (87%) |species == rice; score == 675; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (86%) |species == Human; gene == LOC375275; score == 671; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC129439; score == 670; expect == 0.0; MEOW:HUgn0129439 (87%) |species == Human; gene == LOC375273; score == 667; expect == 0.0; MEOW:HUgn0375273 (86%) |species == rice; score == 656; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (89%) |species == Mouse; gene == Actg2; score == 649; expect == 0.0; MEOW:MGgn0000100 (98%) |species == Human; gene == LOC376953; score == 640; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At3g18780; score == 637; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Human; gene == LOC343354; score == 608; expect == 2e-174; MEOW:HUgn0343354 (80%) |species == Mosquito; gene == LOC22306; score == 603; expect == 4e-173; MEOW:AGgn0022306 (89%) } # EOR GENR { RETE|ID 1 HUgn0000071 CHR 1 17 DID 1 LocusLink:71 MAP 1 17q25 NAM 1 actin, gamma 1 ORG 1 Homo sapiens SYM 1 ACTG1 ID|HUgn0000071 DID|LocusLink:71 ORG|Homo sapiens RSQ|REFSEQ:NM_001614 RPA|REFPROT:NP_001605 DBA|XM:NM_001614 |NA:M19283 |NA:BC000292 |NA:BC001920 |NA:BC004223 |NA:BC007442 |NA:BC009544 |NA:BC009848 |NA:BC010417 |NA:BC010999 |NA:BC012050 |NA:BC015005 |NA:BC015695 |NA:BC015779 |NA:BC017450 |NA:BC018774 |NA:BC018861 |NA:BC023548 |NA:BC039144 |NA:BC053572 |NA:M16247 |NA:X04098 |NA:none PAC|XP:NP_001605 SYM|ACTG1 NAM|actin, gamma 1 SYN|ACTG |DFNA20 |DFNA26 FNC|actin, gamma 1 propeptide REAB|Actins are highly conserved proteins that are involved in various types of cell motility, |and maintenance of the cytoskeleton. In vertebrates, three main groups of actin |isoforms, alpha, beta and gamma have been identified. The alpha actins are found |in muscle tissues and are a major constituent of the contractile apparatus. The |beta and gamma actins co-exist in most cell types as components of the cytoskeleton, |and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, |is a cytoplasmic actin found in nonmuscle cells. CHR|17 PRD|actin, cytoplasmic 2 |cytoskeletal gamma-actin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=14376 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=71[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120536 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001614 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001614 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=14376 DBL|UNIGENE:Hs.14376 |OMIM:102560 |SNP:71 MAP|17q25 PHP|Deafness, autosomal dominant 20/26 ENZ|motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actg; score == 758; expect == 0.0; MEOW:MGgn0000097 (100%) |species == Human; gene == ACTB; score == 754; expect == 0.0; MEOW:HUgn0000060 (98%) |species == Mouse; gene == Actb; score == 754; expect == 0.0; MEOW:MGgn0000093 (98%) |species == rat; score == 754; expect == 0.0; MEOW:ref|NP_112406.1| (98%) |species == Mosquito; gene == LOC19055; score == 749; expect == 0.0; MEOW:AGgn0019055 (98%) |species == Fruitfly; gene == Act5C; score == 749; expect == 0.0; MEOW:FBgn0000042 (98%) |species == Fruitfly; gene == Act42A; score == 748; expect == 0.0; MEOW:FBgn0000043 (97%) |species == Worm; gene == act-4; score == 745; expect == 0.0; MEOW:CEgn0000031 (97%) |species == Worm; gene == act-1; score == 744; expect == 0.0; MEOW:CEgn0000028 (96%) |species == Worm; gene == act-2; score == 744; expect == 0.0; MEOW:CEgn0000029 (97%) |species == Worm; gene == act-3; score == 744; expect == 0.0; MEOW:CEgn0000030 (96%) |species == Mosquito; gene == LOC9996; score == 737; expect == 0.0; MEOW:AGgn0009996 (95%) |species == rat; score == 737; expect == 0.0; MEOW:ref|XP_213540.2| (98%) |species == rat; score == 737; expect == 0.0; MEOW:ref|XP_215761.2| (98%) |species == Fruitfly; gene == Act87E; score == 735; expect == 0.0; MEOW:FBgn0000046 (95%) |species == Mosquito; gene == LOC15039; score == 733; expect == 0.0; MEOW:AGgn0015039 (95%) |species == Mosquito; gene == LOC16398; score == 733; expect == 0.0; MEOW:AGgn0016398 (94%) |species == Mosquito; gene == LOC22308; score == 733; expect == 0.0; MEOW:AGgn0022308 (95%) |species == Fruitfly; gene == Act57B; score == 733; expect == 0.0; MEOW:FBgn0000044 (94%) |species == Fruitfly; gene == Act88F; score == 733; expect == 0.0; MEOW:FBgn0000047 (95%) |species == Mosquito; gene == LOC15027; score == 729; expect == 0.0; MEOW:AGgn0015027 (95%) |species == Fruitfly; gene == Act79B; score == 726; expect == 0.0; MEOW:FBgn0000045 (94%) |species == Human; gene == ACTA2; score == 724; expect == 0.0; MEOW:HUgn0000059 (94%) |species == Human; gene == ACTG2; score == 724; expect == 0.0; MEOW:HUgn0000072 (94%) |species == Mouse; gene == Acta2; score == 724; expect == 0.0; MEOW:MGgn0000107 (94%) |species == rat; score == 724; expect == 0.0; MEOW:ref|NP_037025.1| (94%) |species == Human; gene == ACTC; score == 723; expect == 0.0; MEOW:HUgn0000070 (94%) |species == Mouse; gene == Actc1; score == 723; expect == 0.0; MEOW:MGgn0000096 (94%) |species == Human; gene == ACTA1; score == 721; expect == 0.0; MEOW:HUgn0000058 (93%) |species == Mouse; gene == Acta1; score == 721; expect == 0.0; MEOW:MGgn0000091 (93%) |species == rat; score == 721; expect == 0.0; MEOW:ref|NP_062085.1| (93%) |species == Worm; gene == act-5; score == 720; expect == 0.0; MEOW:CEgn0000032 (93%) |species == Zfish; gene == acta1; score == 718; expect == 0.0; MEOW:ZFgn0000929 (93%) |species == Mouse; gene == 4732495G21Rik; score == 717; expect == 0.0; MEOW:MGgn0040763 (92%) |species == rat; score == 716; expect == 0.0; MEOW:ref|XP_213911.2| (97%) |species == rat; score == 714; expect == 0.0; MEOW:ref|XP_226755.1| (92%) |species == Human; gene == LOC345651; score == 710; expect == 0.0; MEOW:HUgn0345651 (91%) |species == Mosquito; score == 708; expect == 0.0; MEOW:AGgn0015031 (90%) |species == Mosquito; score == 707; expect == 0.0; MEOW:AGgn0016397 (91%) |species == rat; score == 707; expect == 0.0; MEOW:ref|XP_215801.2| (92%) |species == Mosquito; gene == LOC22175; score == 703; expect == 0.0; MEOW:AGgn0022175 (91%) |species == Human; gene == LOC375275; score == 699; expect == 0.0; MEOW:HUgn0375275 (91%) |species == Human; gene == LOC129439; score == 698; expect == 0.0; MEOW:HUgn0129439 (90%) |species == Yeast; gene == ACT1; score == 696; expect == 0.0; MEOW:SGgn0001855 (89%) |species == rice; score == 696; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (90%) |species == Weed; gene == At3g12110; score == 695; expect == 0.0; MEOW:ATgn0016066 (90%) |species == Human; gene == LOC375273; score == 695; expect == 0.0; MEOW:HUgn0375273 (90%) |species == rice; score == 693; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (90%) |species == Weed; gene == At2g37620; score == 692; expect == 0.0; MEOW:ATgn0008857 (89%) |species == Weed; gene == At3g53750; score == 692; expect == 0.0; MEOW:ATgn0013219 (89%) |species == rice; score == 689; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (90%) |species == Weed; gene == At5g09810; score == 688; expect == 0.0; MEOW:ATgn0022752 (90%) |species == Weed; gene == At5g59370; score == 684; expect == 0.0; MEOW:ATgn0025880 (89%) |species == Weed; gene == At3g46520; score == 683; expect == 0.0; MEOW:ATgn0013457 (89%) |species == rice; score == 682; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (88%) |species == rice; score == 681; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (88%) |species == rice; score == 680; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (89%) |species == rice; score == 679; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (87%) |species == Weed; gene == At1g49240; score == 678; expect == 0.0; MEOW:ATgn0000853 (87%) |species == Human; gene == LOC344227; score == 678; expect == 0.0; MEOW:HUgn0344227 (91%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (87%) |species == Human; gene == LOC376953; score == 667; expect == 0.0; MEOW:HUgn0376953 (90%) |species == rice; score == 654; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (90%) |species == Human; gene == LOC343354; score == 641; expect == 0.0; MEOW:HUgn0343354 (85%) |species == Weed; gene == At3g18780; score == 639; expect == 0.0; MEOW:ATgn0016446 (86%) |species == Weed; gene == At2g42100; score == 636; expect == 0.0; MEOW:ATgn0007667 (79%) |species == Mouse; gene == Actg2; score == 624; expect == 2e-179; MEOW:MGgn0000100 (93%) |species == Mosquito; gene == LOC22306; score == 615; expect == 7e-177; MEOW:AGgn0022306 (92%) } # EOR GENR { RETE|ID 1 HUgn0000072 CHR 1 2 DID 1 LocusLink:72 MAP 1 2p13.1 NAM 1 actin, gamma 2, smooth muscle, enteric ORG 1 Homo sapiens SYM 1 ACTG2 ID|HUgn0000072 DID|LocusLink:72 ORG|Homo sapiens RSQ|REFSEQ:NM_001615 RPA|REFPROT:NP_001606 DBA|XM:NM_001615 |NA:D00648 |NA:D00649 |NA:D00650 |NA:D00651 |NA:D00652 |NA:D00653 |NA:D00654 |NA:AK124338 |NA:BC012617 |NA:X16940 |NA:none PAC|XP:NP_001606 SYM|ACTG2 NAM|actin, gamma 2, smooth muscle, enteric SYN|ACTE |ACTA3 |ACTSG FNC|actin, gamma 2 propeptide |muscle development ; GO:0007517 REAB|Actins are highly conserved proteins that are involved in various types of cell motility, |and maintenance of the cytoskeleton. In vertebrates, three main groups of actin |isoforms, alpha, beta and gamma have been identified. The alpha actins are found |in muscle tissues and are a major constituent of the contractile apparatus. The |beta and gamma actins co-exist in most cell types as components of the cytoskeleton, |and as mediators of internal cell motility. Actin, gamma 2, encoded by this gene, |is a smooth muscle actin found in enteric tissues. CHR|2 PRD|actin, alpha-3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=403989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=72[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125198 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001615 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001615 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=403989 DBL|UNIGENE:Hs.403989 |OMIM:102545 |SNP:72 MAP|2p13.1 ENZ|structural constituent of muscle ; GO:0008307 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_037025.1| (100%) |species == Human; gene == ACTA2; score == 755; expect == 0.0; MEOW:HUgn0000059 (99%) |species == Mouse; gene == Acta2; score == 755; expect == 0.0; MEOW:MGgn0000107 (99%) |species == Human; gene == ACTC; score == 750; expect == 0.0; MEOW:HUgn0000070 (98%) |species == Mouse; gene == Actc1; score == 750; expect == 0.0; MEOW:MGgn0000096 (98%) |species == Human; gene == ACTA1; score == 748; expect == 0.0; MEOW:HUgn0000058 (98%) |species == Mouse; gene == Acta1; score == 748; expect == 0.0; MEOW:MGgn0000091 (98%) |species == rat; score == 748; expect == 0.0; MEOW:ref|NP_062085.1| (98%) |species == Zfish; gene == acta1; score == 745; expect == 0.0; MEOW:ZFgn0000929 (97%) |species == rat; score == 734; expect == 0.0; MEOW:ref|XP_215801.2| (96%) |species == Worm; gene == act-4; score == 729; expect == 0.0; MEOW:CEgn0000031 (94%) |species == Mosquito; gene == LOC19055; score == 728; expect == 0.0; MEOW:AGgn0019055 (94%) |species == Worm; gene == act-1; score == 728; expect == 0.0; MEOW:CEgn0000028 (93%) |species == Worm; gene == act-2; score == 728; expect == 0.0; MEOW:CEgn0000029 (94%) |species == Worm; gene == act-3; score == 728; expect == 0.0; MEOW:CEgn0000030 (93%) |species == Fruitfly; gene == Act5C; score == 728; expect == 0.0; MEOW:FBgn0000042 (94%) |species == Fruitfly; gene == Act42A; score == 728; expect == 0.0; MEOW:FBgn0000043 (93%) |species == Human; gene == ACTG1; score == 724; expect == 0.0; MEOW:HUgn0000071 (94%) |species == Mouse; gene == Actg; score == 724; expect == 0.0; MEOW:MGgn0000097 (94%) |species == Human; gene == ACTB; score == 720; expect == 0.0; MEOW:HUgn0000060 (93%) |species == Mouse; gene == Actb; score == 720; expect == 0.0; MEOW:MGgn0000093 (93%) |species == rat; score == 720; expect == 0.0; MEOW:ref|NP_112406.1| (93%) |species == Fruitfly; gene == Act87E; score == 719; expect == 0.0; MEOW:FBgn0000046 (92%) |species == Mosquito; gene == LOC9996; score == 718; expect == 0.0; MEOW:AGgn0009996 (92%) |species == Fruitfly; gene == Act57B; score == 718; expect == 0.0; MEOW:FBgn0000044 (92%) |species == Fruitfly; gene == Act88F; score == 717; expect == 0.0; MEOW:FBgn0000047 (92%) |species == Mosquito; gene == LOC15027; score == 716; expect == 0.0; MEOW:AGgn0015027 (92%) |species == Mosquito; gene == LOC16398; score == 716; expect == 0.0; MEOW:AGgn0016398 (92%) |species == Mosquito; gene == LOC15039; score == 715; expect == 0.0; MEOW:AGgn0015039 (92%) |species == Mosquito; gene == LOC22308; score == 715; expect == 0.0; MEOW:AGgn0022308 (92%) |species == Fruitfly; gene == Act79B; score == 714; expect == 0.0; MEOW:FBgn0000045 (92%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_213540.2| (93%) |species == rat; score == 704; expect == 0.0; MEOW:ref|XP_215761.2| (93%) |species == Worm; gene == act-5; score == 703; expect == 0.0; MEOW:CEgn0000032 (91%) |species == Mouse; gene == 4732495G21Rik; score == 697; expect == 0.0; MEOW:MGgn0040763 (88%) |species == Mosquito; gene == LOC22175; score == 696; expect == 0.0; MEOW:AGgn0022175 (89%) |species == Mosquito; score == 693; expect == 0.0; MEOW:AGgn0015031 (88%) |species == Mosquito; score == 691; expect == 0.0; MEOW:AGgn0016397 (88%) |species == rat; score == 691; expect == 0.0; MEOW:ref|XP_226755.1| (88%) |species == Human; gene == LOC345651; score == 689; expect == 0.0; MEOW:HUgn0345651 (87%) |species == rice; score == 688; expect == 0.0; MEOW:gnl|TIGR|8360.m04570 (88%) |species == Weed; gene == At3g12110; score == 686; expect == 0.0; MEOW:ATgn0016066 (88%) |species == rice; score == 686; expect == 0.0; MEOW:gnl|TIGR|8350.m06884 (89%) |species == Weed; gene == At2g37620; score == 685; expect == 0.0; MEOW:ATgn0008857 (88%) |species == Weed; gene == At3g53750; score == 685; expect == 0.0; MEOW:ATgn0013219 (88%) |species == rice; score == 684; expect == 0.0; MEOW:gnl|TIGR|8353.m00059 (88%) |species == rat; score == 683; expect == 0.0; MEOW:ref|XP_213911.2| (91%) |species == Weed; gene == At5g09810; score == 681; expect == 0.0; MEOW:ATgn0022752 (88%) |species == Yeast; gene == ACT1; score == 678; expect == 0.0; MEOW:SGgn0001855 (86%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8359.m00563 (87%) |species == rice; score == 676; expect == 0.0; MEOW:gnl|TIGR|8362.m02898 (87%) |species == Weed; gene == At5g59370; score == 674; expect == 0.0; MEOW:ATgn0025880 (87%) |species == rice; score == 674; expect == 0.0; MEOW:gnl|TIGR|8350.m06075 (86%) |species == Weed; gene == At3g46520; score == 673; expect == 0.0; MEOW:ATgn0013457 (86%) |species == rice; score == 673; expect == 0.0; MEOW:gnl|TIGR|8358.m00555 (85%) |species == Weed; gene == At1g49240; score == 672; expect == 0.0; MEOW:ATgn0000853 (85%) |species == rice; score == 672; expect == 0.0; MEOW:gnl|TIGR|8360.m05606 (88%) |species == rice; score == 670; expect == 0.0; MEOW:gnl|TIGR|8353.m03220 (85%) |species == Human; gene == LOC129439; score == 669; expect == 0.0; MEOW:HUgn0129439 (86%) |species == Human; gene == LOC375275; score == 669; expect == 0.0; MEOW:HUgn0375275 (87%) |species == Human; gene == LOC375273; score == 666; expect == 0.0; MEOW:HUgn0375273 (86%) |species == Mouse; gene == Actg2; score == 659; expect == 0.0; MEOW:MGgn0000100 (99%) |species == rice; score == 649; expect == 0.0; MEOW:gnl|TIGR|8359.m04253 (88%) |species == Human; gene == LOC376953; score == 638; expect == 0.0; MEOW:HUgn0376953 (86%) |species == Weed; gene == At2g42100; score == 632; expect == 0.0; MEOW:ATgn0007667 (78%) |species == Weed; gene == At3g18780; score == 632; expect == 0.0; MEOW:ATgn0016446 (84%) |species == Mosquito; gene == LOC22306; score == 607; expect == 2e-174; MEOW:AGgn0022306 (89%) |species == Human; gene == LOC343354; score == 607; expect == 3e-174; MEOW:HUgn0343354 (80%) } # EOR GENR { RETE|ID 1 HUgn0000073 CHR 1 3 DID 1 LocusLink:73 MAP 1 3q22.3 NAM 1 actin, gamma pseudogene 1 ORG 1 Homo sapiens SYM 1 ACTGP1 ID|HUgn0000073 DID|LocusLink:73 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D50658 SYM|ACTGP1 NAM|actin, gamma pseudogene 1 CHR|3 MAP|3q22.3 DBL|SNP:73 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119647 } # EOR GENR { RETE|ID 1 HUgn0000074 CHR 1 Y DID 1 LocusLink:74 MAP 1 Yq11 NAM 1 actin, gamma pseudogene 2 ORG 1 Homo sapiens SYM 1 ACTGP2 ID|HUgn0000074 DID|LocusLink:74 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AC007742 SYM|ACTGP2 NAM|actin, gamma pseudogene 2 SYN|ACTL2 CHR|Y MAP|Yq11 DBL|SNP:74 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:120537 } # EOR GENR { RETE|ID 1 HUgn0000075 CHR 1 20 DID 1 LocusLink:75 MAP 1 20p13-p13 NAM 1 actin, gamma pseudogene 3 ORG 1 Homo sapiens SYM 1 ACTGP3 ID|HUgn0000075 DID|LocusLink:75 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AF196979 |NA:AL031665 |NA:D50657 |NA:X04224 SYM|ACTGP3 NAM|actin, gamma pseudogene 3 SYN|dJ545L17.4 CHR|20 MAP|20p13-p13 DBL|SNP:75 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:636825 } # EOR GENR { RETE|ID 1 HUgn0000076 CHR 1 1 DID 1 LocusLink:76 MAP 1 1p21 NAM 1 actin, gamma pseudogene 4 ORG 1 Homo sapiens SYM 1 ACTGP4 ID|HUgn0000076 DID|LocusLink:76 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP4 NAM|actin, gamma pseudogene 4 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681577 } # EOR GENR { RETE|ID 1 HUgn0000077 CHR 1 1 DID 1 LocusLink:77 MAP 1 1p21 NAM 1 actin, gamma pseudogene 5 ORG 1 Homo sapiens SYM 1 ACTGP5 ID|HUgn0000077 DID|LocusLink:77 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP5 NAM|actin, gamma pseudogene 5 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681583 } # EOR GENR { RETE|ID 1 HUgn0000078 CHR 1 1 DID 1 LocusLink:78 MAP 1 1p21 NAM 1 actin, gamma pseudogene 6 ORG 1 Homo sapiens SYM 1 ACTGP6 ID|HUgn0000078 DID|LocusLink:78 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP6 NAM|actin, gamma pseudogene 6 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:681587 } # EOR GENR { RETE|ID 1 HUgn0000079 CHR 1 1 DID 1 LocusLink:79 MAP 1 1p21 NAM 1 actin, gamma pseudogene 7 ORG 1 Homo sapiens SYM 1 ACTGP7 ID|HUgn0000079 DID|LocusLink:79 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP7 NAM|actin, gamma pseudogene 7 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683126 } # EOR GENR { RETE|ID 1 HUgn0000080 CHR 1 1 DID 1 LocusLink:80 MAP 1 1p21 NAM 1 actin, gamma pseudogene 8 ORG 1 Homo sapiens SYM 1 ACTGP8 ID|HUgn0000080 DID|LocusLink:80 CLA|Pseudogene ORG|Homo sapiens SYM|ACTGP8 NAM|actin, gamma pseudogene 8 CHR|1 MAP|1p21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:683128 } # EOR GENR { RETE|ID 1 HUgn0000081 CHR 1 19 DID 1 LocusLink:81 MAP 1 19q13 NAM 1 actinin, alpha 4 ORG 1 Homo sapiens SYM 1 ACTN4 ID|HUgn0000081 DID|LocusLink:81 ORG|Homo sapiens RSQ|REFSEQ:NM_004924 RPA|REFPROT:NP_004915 DBA|XM:NM_004924 |NA:AA478431 |NA:AU118403 |NA:BC005033 |NA:BC015620 |NA:D89980 |NA:U48734 |NA:none PAC|XP:NP_004915 SYM|ACTN4 NAM|actinin, alpha 4 SYN|FSGS |FSGS1 FNC|actinin, alpha 4 |invasive growth ; GO:0007125 |cell motility ; GO:0006928 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is |concentrated in the cytoplasm, and thought to be involved in metastatic processes. | Mutations in this gene have been associated with focal and segmental glomerulosclerosis. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=443619 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=81[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131821 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004924 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004924 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=443619 |http://www.geneclinics.org/query?mim=604638 DBL|UNIGENE:Hs.443619 |OMIM:604638 |SNP:81 |UWCM:131821.html MAP|19q13 PHP|Glomerulosclerosis, focal segmental, 1 ENZ|actin bundling activity ; GO:0003781 |calcium ion binding ; GO:0005509 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin cytoskeleton ; GO:0015629 |cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Actn4; score == 1778; expect == 0.0; MEOW:MGgn0014762 (97%) |species == rat; score == 1574; expect == 0.0; MEOW:ref|NP_112267.1| (86%) |species == Human; gene == ACTN1; score == 1570; expect == 0.0; MEOW:HUgn0000087 (86%) |species == rat; score == 1427; expect == 0.0; MEOW:ref|XP_214499.2| (78%) |species == Mouse; gene == Actn2; score == 1424; expect == 0.0; MEOW:MGgn0000104 (78%) |species == Human; gene == ACTN2; score == 1422; expect == 0.0; MEOW:HUgn0000088 (78%) |species == Human; gene == ACTN3; score == 1379; expect == 0.0; MEOW:HUgn0000089 (74%) |species == rat; score == 1377; expect == 0.0; MEOW:ref|NP_596915.1| (74%) |species == Mosquito; gene == LOC11796; score == 1285; expect == 0.0; MEOW:AGgn0011796 (69%) |species == Mosquito; score == 1283; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Mosquito; gene == LOC23605; score == 1270; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1266; expect == 0.0; MEOW:FBgn0000667 (67%) |species == Worm; gene == atn-1; score == 1110; expect == 0.0; MEOW:CEgn0000097 (59%) |species == Zfish; gene == sptb; score == 436; expect == 1e-121; MEOW:ZFgn0000936 (36%) } # EOR GENR { RETE|ID 1 HUgn0000082 CHR 1 6 DID 1 LocusLink:82 MAP 1 6p12.3 NAM 1 actin, gamma pseudogene 9 ORG 1 Homo sapiens SYM 1 ACTGP9 ID|HUgn0000082 DID|LocusLink:82 CLA|Pseudogene ORG|Homo sapiens DBA|NA:D50659 SYM|ACTGP9 NAM|actin, gamma pseudogene 9 CHR|6 MAP|6p12.3 DBL|SNP:82 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:1391661 } # EOR GENR { RETE|ID 1 HUgn0000083 CHR 1 X DID 1 LocusLink:83 MAP 1 Xp11-q11 NAM 1 actin, gamma pseudogene 10 ORG 1 Homo sapiens SYM 1 ACTGP10 ID|HUgn0000083 DID|LocusLink:83 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL139396 SYM|ACTGP10 NAM|actin, gamma pseudogene 10 SYN|ACTL1 |ACTP1 CHR|X PRD|actin-like 1 |actin-like sequence-1 DBL|OMIM:300020 MAP|Xp11-q11 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119648 } # EOR GENR { RETE|ID 1 HUgn0000084 CHR 1 3 DID 1 LocusLink:84 MAP 1 3pter-q21 NAM 1 actin-like 4 ORG 1 Homo sapiens SYM 1 ACTL4 ID|HUgn0000084 DID|LocusLink:84 ORG|Homo sapiens SYM|ACTL4 NAM|actin-like 4 CHR|3 MAP|3pter-q21 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118972 } # EOR GENR { RETE|ID 1 HUgn0000085 CHR 1 21 DID 1 LocusLink:85 MAP 1 21q22.3 NAM 1 actin-like 5 ORG 1 Homo sapiens SYM 1 ACTL5 ID|HUgn0000085 DID|LocusLink:85 ORG|Homo sapiens SYM|ACTL5 NAM|actin-like 5 SYN|ACTFIB CHR|21 MAP|21q22.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:135326 } # EOR GENR { RETE|ID 1 HUgn0000086 CHR 1 3 DID 1 LocusLink:86 MAP 1 3q27.1 NAM 1 BAF53 ORG 1 Homo sapiens SYM 1 BAF53A ID|HUgn0000086 DID|LocusLink:86 ORG|Homo sapiens RSQ|REFSEQ:NM_004301 |REFSEQ:NM_177989 |REFSEQ:NM_178042 RPA|REFPROT:NP_004292 |REFPROT:NP_817126 |REFPROT:NP_829888 DBA|XM:NM_004301 |XM:NM_177989 |XM:NM_178042 |NA:AB015907 |NA:AB060168 |NA:AB061315 |NA:AF041474 |NA:AK021756 |NA:AK098691 |NA:AL136608 |NA:BC000949 |NA:BC001391 |NA:BC035463 |NA:BC036371 |NA:none PAC|XP:NP_004292 |XP:NP_817126 |XP:NP_829888 SYM|BAF53A NAM|BAF53 SYN|ACTL6 |MGC5382 FNC|BAF53a isoform 1 |BAF53a isoform 2 |response to pest/pathogen/parasite ; GO:0009613 |chromatin modeling ; GO:0006338 |signal transduction ; GO:0007165 REAB|This gene encodes a family member of actin-related proteins (ARPs), which share significant |amino acid sequence identity to conventional actins. Both actins and ARPs have an |actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved |in diverse cellular processes, including vesicular transport, spindle orientation, |nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein |of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally |related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought |to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated |transcriptional repression. Together with beta-actin, it is required for maximal |ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. |This gene was mistakenly referred to as ACTL6, which is a different gene on chromosome |7q22. This gene is immediately adjacent to the gene for mitochondrial ribosomal |protein L47, in a tail-to-tail orientation. Three transcript variants that encode |two different protein isoforms have been described. CHR|3 PRD|hArpN beta |actin-related protein |BRG1-associated factor |BAF complex 53 kDa subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=435326 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=86[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9838049 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_178042 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_178042 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=435326 DBL|UNIGENE:Hs.435326 |OMIM:604958 |SNP:86 MAP|3q27.1 ENZ|chromatin binding ; GO:0003682 |motor activity ; GO:0003774 |structural constituent of cytoskeleton ; GO:0005200 CEL|actin filament ; GO:0005884 |nucleus ; GO:0005634 HG|species == Mouse; gene == C79802; score == 871; expect == 0.0; MEOW:MGgn0014245 (98%) |species == Zfish; gene == baf53a; score == 798; expect == 0.0; MEOW:ZFgn0002599 (88%) |species == Human; gene == ACTL6; score == 753; expect == 0.0; MEOW:HUgn0051412 (83%) |species == Mouse; gene == Actl6; score == 751; expect == 0.0; MEOW:MGgn0028364 (83%) |species == rat; score == 732; expect == 0.0; MEOW:ref|XP_213739.2| (76%) |species == rat; score == 662; expect == 0.0; MEOW:ref|XP_342226.1| (80%) |species == Fruitfly; gene == Bap55; score == 487; expect == 3e-138; MEOW:FBgn0025716 (54%) |species == Mosquito; gene == LOC14187; score == 476; expect == 1e-134; MEOW:AGgn0014187 (53%) |species == Worm; gene == ZK616.4; score == 402; expect == 1e-112; MEOW:CEgn0029054 (45%) |species == Weed; gene == At1g18450; score == 365; expect == 2e-101; MEOW:ATgn0006877 (41%) |species == rice; score == 272; expect == 5.0e-73; MEOW:gnl|TIGR|8356.m00329 (38%) |species == rice; score == 255; expect == 8.3e-68; MEOW:gnl|TIGR|8359.m00563 (35%) |species == rice; score == 253; expect == 4.1e-67; MEOW:gnl|TIGR|8353.m00059 (35%) |species == rice; score == 252; expect == 7.0e-67; MEOW:gnl|TIGR|8350.m06884 (35%) |species == Yeast; gene == ACT1; score == 248; expect == 1.3e-66; MEOW:SGgn0001855 (35%) |species == rice; score == 246; expect == 5.0e-65; MEOW:gnl|TIGR|8353.m03220 (35%) |species == rice; score == 246; expect == 3.0e-65; MEOW:gnl|TIGR|8360.m04570 (34%) |species == rice; score == 246; expect == 3.0e-65; MEOW:gnl|TIGR|8362.m02898 (34%) |species == rice; score == 242; expect == 7.3e-64; MEOW:gnl|TIGR|8358.m00555 (34%) |species == rice; score == 241; expect == 1.2e-63; MEOW:gnl|TIGR|8350.m06075 (34%) |species == rice; score == 240; expect == 3.6e-63; MEOW:gnl|TIGR|8360.m05606 (34%) } # EOR GENR { RETE|ID 1 HUgn0000087 CHR 1 14 DID 1 LocusLink:87 MAP 1 14q24.1-q24.2 NAM 1 actinin, alpha 1 ORG 1 Homo sapiens SYM 1 ACTN1 ID|HUgn0000087 DID|LocusLink:87 ORG|Homo sapiens RSQ|REFSEQ:NM_001102 RPA|REFPROT:NP_001093 DBA|XM:NM_001102 |NA:BC003576 |NA:BC004984 |NA:BC015766 |NA:BT007207 |NA:M95178 |NA:X15804 |NA:X55187 |NA:none PAC|XP:NP_001093 SYM|ACTN1 NAM|actinin, alpha 1 FNC|actinin, alpha 1 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform |and maps to the same site as the structurally similar erythroid beta spectrin gene. CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=119000 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=87[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:125187 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001102 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001102 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=119000 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24 DBL|UNIGENE:Hs.119000 |OMIM:102575 |SNP:87 MAP|14q24.1-q24.2 HG|species == rat; score == 1794; expect == 0.0; MEOW:ref|NP_112267.1| (99%) |species == Mouse; gene == Actn4; score == 1573; expect == 0.0; MEOW:MGgn0014762 (86%) |species == Human; gene == ACTN4; score == 1570; expect == 0.0; MEOW:HUgn0000081 (86%) |species == rat; score == 1461; expect == 0.0; MEOW:ref|XP_214499.2| (80%) |species == Mouse; gene == Actn2; score == 1458; expect == 0.0; MEOW:MGgn0000104 (80%) |species == Human; gene == ACTN2; score == 1455; expect == 0.0; MEOW:HUgn0000088 (80%) |species == Human; gene == ACTN3; score == 1440; expect == 0.0; MEOW:HUgn0000089 (78%) |species == Mouse; gene == Actn3; score == 1440; expect == 0.0; MEOW:MGgn0000106 (78%) |species == rat; score == 1439; expect == 0.0; MEOW:ref|NP_596915.1| (78%) |species == Mosquito; gene == LOC11796; score == 1297; expect == 0.0; MEOW:AGgn0011796 (70%) |species == Mosquito; score == 1295; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Fruitfly; gene == Actn; score == 1288; expect == 0.0; MEOW:FBgn0000667 (68%) |species == Mosquito; gene == LOC23605; score == 1281; expect == 0.0; MEOW:AGgn0023605 (68%) |species == Worm; gene == atn-1; score == 1120; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 431; expect == 2e-120; MEOW:ZFgn0000936 (37%) } # EOR GENR { RETE|ID 1 HUgn0000088 CHR 1 1 DID 1 LocusLink:88 MAP 1 1q42-q43 NAM 1 actinin, alpha 2 ORG 1 Homo sapiens SYM 1 ACTN2 ID|HUgn0000088 DID|LocusLink:88 ORG|Homo sapiens RSQ|REFSEQ:NM_001103 RPA|REFPROT:NP_001094 DBA|XM:NM_001103 |NA:AJ249756 |NA:AJ249757 |NA:AJ249758 |NA:AJ249759 |NA:AJ249760 |NA:AJ249761 |NA:AJ249762 |NA:AJ249763 |NA:AJ249764 |NA:AJ249765 |NA:AJ249766 |NA:AJ249767 |NA:AJ249768 |NA:AJ249769 |NA:AJ249770 |NA:AJ249771 |NA:AJ249772 |NA:AJ249773 |NA:AJ249774 |NA:AJ249775 |NA:AJ249776 |NA:M86804 |NA:BC047901 |NA:BC051770 |NA:M86406 |NA:none PAC|XP:NP_001094 SYM|ACTN2 NAM|actinin, alpha 2 FNC|actinin, alpha 2 REAB|Alpha actinins belong to the spectrin gene superfamily which represents a diverse |group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. | Alpha actinin is an actin-binding protein with multiple roles in different cell |types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament |bundles and adherens-type junctions, where it is involved in binding actin to the |membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized |to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar |actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that |is expressed in both skeletal and cardiac muscles. Transcript variants resulting |from the use of multiple poly_A sites have been observed. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83672 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=88[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127919 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001103 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001103 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83672 DBL|UNIGENE:Hs.83672 |OMIM:102573 |SNP:88 MAP|1q42-q43 ENZ|structural constituent of muscle ; GO:0008307 |actin binding ; GO:0003779 |calcium ion binding ; GO:0005509 CEL|actin filament ; GO:0005884 HG|species == rat; score == 1716; expect == 0.0; MEOW:ref|XP_214499.2| (99%) |species == Mouse; gene == Actn2; score == 1713; expect == 0.0; MEOW:MGgn0000104 (99%) |species == rat; score == 1456; expect == 0.0; MEOW:ref|NP_112267.1| (80%) |species == Human; gene == ACTN1; score == 1455; expect == 0.0; MEOW:HUgn0000087 (80%) |species == Mouse; gene == Actn3; score == 1449; expect == 0.0; MEOW:MGgn0000106 (81%) |species == rat; score == 1449; expect == 0.0; MEOW:ref|NP_596915.1| (81%) |species == Human; gene == ACTN3; score == 1446; expect == 0.0; MEOW:HUgn0000089 (81%) |species == Human; gene == ACTN4; score == 1422; expect == 0.0; MEOW:HUgn0000081 (78%) |species == Mouse; gene == Actn4; score == 1420; expect == 0.0; MEOW:MGgn0014762 (77%) |species == Mosquito; score == 1272; expect == 0.0; MEOW:AGgn0029589 (69%) |species == Mosquito; gene == LOC11796; score == 1258; expect == 0.0; MEOW:AGgn0011796 (68%) |species == Mosquito; gene == LOC23605; score == 1258; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1256; expect == 0.0; MEOW:FBgn0000667 (66%) |species == Worm; gene == atn-1; score == 1126; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 422; expect == 9e-118; MEOW:ZFgn0000936 (39%) } # EOR GENR { RETE|ID 1 HUgn0000089 CHR 1 11 DID 1 LocusLink:89 MAP 1 11q13-q14 NAM 1 actinin, alpha 3 ORG 1 Homo sapiens SYM 1 ACTN3 ID|HUgn0000089 DID|LocusLink:89 ORG|Homo sapiens RSQ|REFSEQ:NM_001104 RPA|REFPROT:NP_001095 DBA|XM:NM_001104 |NA:AK125851 |NA:M86407 |NA:none PAC|XP:NP_001095 SYM|ACTN3 NAM|actinin, alpha 3 FNC|skeletal muscle specific actinin, alpha 3 REAB|Alpha-actinin is an actin-binding protein with multiple roles in different cell types. |ACTN3 expression is limited to skeletal muscle. It is localized to the Z-disc and |analogous dense bodies, where it helps to anchor the myofibrillar actin filaments CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445037 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=89[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127920 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001104 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001104 DBL|UNIGENE:Hs.445037 |OMIM:102574 |SNP:89 MAP|11q13-q14 PHP|Alpha-actinin-3 deficiency |Elite sprint athletic performance ENZ|structural constituent of muscle ; GO:0008307 |actin binding ; GO:0003779 |calcium ion binding ; GO:0005509 CEL|actin filament ; GO:0005884 HG|species == Mouse; gene == Actn3; score == 1685; expect == 0.0; MEOW:MGgn0000106 (96%) |species == rat; score == 1684; expect == 0.0; MEOW:ref|NP_596915.1| (96%) |species == Human; gene == ACTN2; score == 1446; expect == 0.0; MEOW:HUgn0000088 (81%) |species == rat; score == 1444; expect == 0.0; MEOW:ref|XP_214499.2| (81%) |species == Mouse; gene == Actn2; score == 1441; expect == 0.0; MEOW:MGgn0000104 (80%) |species == Human; gene == ACTN1; score == 1440; expect == 0.0; MEOW:HUgn0000087 (78%) |species == rat; score == 1436; expect == 0.0; MEOW:ref|NP_112267.1| (78%) |species == Mouse; gene == Actn4; score == 1380; expect == 0.0; MEOW:MGgn0014762 (74%) |species == Human; gene == ACTN4; score == 1379; expect == 0.0; MEOW:HUgn0000081 (74%) |species == Mosquito; score == 1255; expect == 0.0; MEOW:AGgn0029589 (68%) |species == Mosquito; gene == LOC11796; score == 1241; expect == 0.0; MEOW:AGgn0011796 (68%) |species == Mosquito; gene == LOC23605; score == 1241; expect == 0.0; MEOW:AGgn0023605 (67%) |species == Fruitfly; gene == Actn; score == 1237; expect == 0.0; MEOW:FBgn0000667 (66%) |species == Worm; gene == atn-1; score == 1118; expect == 0.0; MEOW:CEgn0000097 (60%) |species == Zfish; gene == sptb; score == 417; expect == 7e-118; MEOW:ZFgn0000936 (39%) } # EOR GENR { RETE|ID 1 HUgn0000090 CHR 1 2 DID 1 LocusLink:90 MAP 1 2q23-q24 NAM 1 activin A receptor, type I ORG 1 Homo sapiens SYM 1 ACVR1 ID|HUgn0000090 DID|LocusLink:90 ORG|Homo sapiens RSQ|REFSEQ:NM_001105 RPA|REFPROT:NP_001096 DBA|XM:NM_001105 |NA:BC033867 |NA:BC036748 |NA:L02911 |NA:Z22534 |NA:none PAC|XP:NP_001096 SYM|ACVR1 NAM|activin A receptor, type I SYN|ALK2 |SKR1 |ACTRI |ACVRLK2 FNC|activin A type I receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. This gene |encodes activin A type I receptor which signals a particular transcriptional response |in concert with activin type II receptors. CHR|2 PRD|hydroxyalkyl-protein kinase |activin A receptor, type II-like kinase 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=150402 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=90[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:216986 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001105 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001105 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=150402 DBL|UNIGENE:Hs.150402 |OMIM:102576 |SNP:90 ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|2q23-q24 CEL|integral to plasma membrane ; GO:0005887 HG|species == Zfish; gene == alk8; score == 651; expect == 0.0; MEOW:ZFgn0000465 (67%) |species == Zfish; gene == acvrl1; score == 567; expect == 4e-162; MEOW:ZFgn0002643 (60%) |species == Human; gene == ACVRL1; score == 565; expect == 2e-161; MEOW:HUgn0000094 (59%) |species == Mouse; gene == Acvrl1; score == 562; expect == 2e-160; MEOW:MGgn0000113 (61%) |species == rat; score == 558; expect == 3e-159; MEOW:ref|NP_071886.1| (59%) |species == Mosquito; score == 507; expect == 6e-144; MEOW:AGgn0020732 (51%) |species == Fruitfly; gene == sax; score == 505; expect == 2e-143; MEOW:FBgn0003317 (54%) |species == Human; gene == TGFBR1; score == 454; expect == 5e-128; MEOW:HUgn0007046 (57%) |species == rat; score == 454; expect == 5e-128; MEOW:ref|NP_036907.1| (51%) |species == rat; score == 454; expect == 4e-128; MEOW:ref|NP_620790.1| (50%) |species == Mouse; gene == Bmpr1b; score == 451; expect == 6e-127; MEOW:MGgn0000845 (51%) |species == Mouse; gene == Tgfbr1; score == 450; expect == 7e-127; MEOW:MGgn0012286 (57%) |species == Fruitfly; gene == babo; score == 443; expect == 2e-124; MEOW:FBgn0011300 (48%) |species == Mosquito; score == 421; expect == 4e-118; MEOW:AGgn0006764 (50%) |species == Mosquito; score == 415; expect == 2e-116; MEOW:AGgn0002247 (64%) |species == Worm; gene == sma-6; score == 252; expect == 3.9e-67; MEOW:CEgn0002563 (39%) |species == Worm; gene == daf-1; score == 238; expect == 8.2e-63; MEOW:CEgn0000344 (39%) } # EOR GENR { RETE|ID 1 HUgn0000091 CHR 1 12 DID 1 LocusLink:91 MAP 1 12q13 NAM 1 activin A receptor, type IB ORG 1 Homo sapiens SYM 1 ACVR1B ID|HUgn0000091 DID|LocusLink:91 ORG|Homo sapiens RSQ|REFSEQ:NM_004302 |REFSEQ:NM_020327 |REFSEQ:NM_020328 RPA|REFPROT:NP_004293 |REFPROT:NP_064732 |REFPROT:NP_064733 DBA|XM:NM_004302 |XM:NM_020327 |XM:NM_020328 |NA:L31848 |NA:BC000254 |NA:BC034008 |NA:BC040531 |NA:BT007072 |NA:L10125 |NA:L10126 |NA:U14722 |NA:Z22536 |NA:none PAC|XP:NP_004293 |XP:NP_064732 |XP:NP_064733 SYM|ACVR1B NAM|activin A receptor, type IB SYN|ALK4 |SKR2 |ACTRIB |ACVRLK4 FNC|activin A type IB receptor isoform a precursor |activin A type IB receptor isoform b precursor |activin A type IB receptor isoform c precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling, |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. This gene |encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and |alternative polyadenylation result in 3 fully described transcript variants. The |mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant |contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression |has not been confirmed. CHR|12 PRD|activin receptor-like kinase 4 |activin A receptor, type II-like kinase 4 |serine(threonine) protein kinase receptor R2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=371974 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=91[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230247 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004302 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004302 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=371974 DBL|UNIGENE:Hs.371974 |OMIM:601300 |SNP:91 ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|12q13 PHP|Pancreatic cancer, somatic CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Acvr1b; score == 931; expect == 0.0; MEOW:MGgn0000110 (98%) |species == rat; score == 905; expect == 0.0; MEOW:ref|XP_235673.2| (98%) |species == Zfish; gene == tarama; score == 764; expect == 0.0; MEOW:ZFgn0000178 (82%) |species == Human; gene == TGFBR1; score == 686; expect == 0.0; MEOW:HUgn0007046 (71%) |species == Human; gene == ACVR1C; score == 639; expect == 0.0; MEOW:HUgn0130399 (66%) |species == Fruitfly; gene == babo; score == 524; expect == 7e-149; MEOW:FBgn0011300 (53%) |species == Mosquito; score == 476; expect == 2e-134; MEOW:AGgn0006764 (54%) |species == Mosquito; score == 451; expect == 3e-127; MEOW:AGgn0002247 (71%) |species == Mosquito; score == 411; expect == 7e-115; MEOW:AGgn0020732 (50%) |species == Mosquito; score == 385; expect == 3e-107; MEOW:AGgn0015057 (59%) |species == Worm; gene == daf-1; score == 245; expect == 5.1e-65; MEOW:CEgn0000344 (42%) |species == Worm; gene == sma-6; score == 237; expect == 1.7e-62; MEOW:CEgn0002563 (34%) } # EOR GENR { RETE|ID 1 HUgn0000092 CHR 1 2 DID 1 LocusLink:92 MAP 1 2q22.2-q23.3 NAM 1 activin A receptor, type II ORG 1 Homo sapiens SYM 1 ACVR2 ID|HUgn0000092 DID|LocusLink:92 ORG|Homo sapiens RSQ|REFSEQ:NM_001616 RPA|REFPROT:NP_001607 DBA|XM:NM_001616 |NA:D31770 |NA:M93415 |NA:X62381 |NA:X63128 |NA:none PAC|XP:NP_001607 SYM|ACVR2 NAM|activin A receptor, type II SYN|ACTRII FNC|activin A type II receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. Type II receptors |are considered to be constitutively active kinases. This gene encodes activin A |type II receptor, and its sequence is 99% identical to that of the mouse type II |receptor gene. CHR|2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389846 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=92[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132411 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001616 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001616 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.389846 |OMIM:102581 |SNP:92 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|2q22.2-q23.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Acvr2; score == 959; expect == 0.0; MEOW:MGgn0000111 (99%) |species == rat; score == 931; expect == 0.0; MEOW:ref|XP_342432.1| (99%) |species == Human; gene == ACVR2B; score == 701; expect == 0.0; MEOW:HUgn0000093 (67%) |species == Zfish; gene == acvr2b; score == 664; expect == 0.0; MEOW:ZFgn0000184 (62%) |species == Mosquito; gene == LOC17446; score == 448; expect == 4e-126; MEOW:AGgn0017446 (55%) |species == Fruitfly; gene == put; score == 431; expect == 5e-121; MEOW:FBgn0003169 (47%) |species == Worm; gene == daf-4; score == 198; expect == 1.4e-50; MEOW:CEgn0000347 (41%) |species == Worm; gene == daf-1; score == 188; expect == 3.7e-48; MEOW:CEgn0000344 (35%) } # EOR GENR { RETE|ID 1 HUgn0000093 CHR 1 3 DID 1 LocusLink:93 MAP 1 3p22 NAM 1 activin A receptor, type IIB ORG 1 Homo sapiens SYM 1 ACVR2B ID|HUgn0000093 DID|LocusLink:93 ORG|Homo sapiens RSQ|REFSEQ:NM_001106 RPA|REFPROT:NP_001097 DBA|XM:NM_001106 |NA:AB008681 |NA:AF060200 |NA:AF060201 |NA:AF060202 |NA:AF075005 |NA:X77533 |NA:none PAC|XP:NP_001097 SYM|ACVR2B NAM|activin A receptor, type IIB SYN|ACTR-IIB FNC|activin A type IIB receptor precursor |transmembrane receptor protein serine/threonine kinase signaling pathway ; GO:0007178 |protein amino acid phosphorylation ; GO:0006468 REAB|Activins are dimeric growth and differentiation factors which belong to the transforming |growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. |Activins signal through a heteromeric complex of receptor serine kinases which include |at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors |are all transmembrane proteins, composed of a ligand-binding extracellular domain |with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with |predicted serine/threonine specificity. Type I receptors are essential for signaling; |and type II receptors are required for binding ligands and for expression of type |I receptors. Type I and II receptors form a stable complex after ligand binding, |resulting in phosphorylation of type I receptors by type II receptors. Type II receptors |are considered to be constitutively active kinases. This gene encodes activin A |type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand |than activin A type II receptor. CHR|3 PRD|ActR-IIB URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=23994 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=93[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:358991 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001106 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001106 |http://www.geneclinics.org/query?mim=602730 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.23994 |OMIM:602730 |SNP:93 MAP|3p22 ENZ|ATP binding ; GO:0005524 |protein binding ; GO:0005515 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 986; expect == 0.0; MEOW:ref|XP_217297.1| (98%) |species == Mouse; gene == Acvr2b; score == 977; expect == 0.0; MEOW:MGgn0000112 (94%) |species == Zfish; gene == acvr2b; score == 811; expect == 0.0; MEOW:ZFgn0000184 (77%) |species == Human; gene == ACVR2; score == 701; expect == 0.0; MEOW:HUgn0000092 (67%) |species == Mosquito; gene == LOC17446; score == 436; expect == 8e-123; MEOW:AGgn0017446 (50%) |species == Fruitfly; gene == put; score == 433; expect == 2e-121; MEOW:FBgn0003169 (48%) |species == Worm; gene == daf-4; score == 204; expect == 1.9e-52; MEOW:CEgn0000347 (41%) |species == Worm; gene == daf-1; score == 171; expect == 1.6e-42; MEOW:CEgn0000344 (32%) } # EOR GENR { RETE|ID 1 HUgn0000094 CHR 1 12 DID 1 LocusLink:94 MAP 1 12q11-q14 NAM 1 activin A receptor type II-like 1 ORG 1 Homo sapiens SYM 1 ACVRL1 ID|HUgn0000094 DID|LocusLink:94 ORG|Homo sapiens RSQ|REFSEQ:NM_000020 RPA|REFPROT:NP_000011 DBA|XM:NM_000020 |NA:U77707 |NA:U77708 |NA:U77709 |NA:U77710 |NA:U77711 |NA:U77712 |NA:U77713 |NA:BC042637 |NA:L17075 |NA:Z22533 |NA:none PAC|XP:NP_000011 SYM|ACVRL1 NAM|activin A receptor type II-like 1 SYN|HHT |ALK1 |HHT2 |ORW2 |SKR3 |ALK-1 |ACVRLK1 FNC|activin A receptor type II-like 1 |TGFbeta receptor signaling pathway ; GO:0007179 |protein amino acid phosphorylation ; GO:0006468 |circulation ; GO:0008015 REAB|Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is |a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares |with other type I receptors a high degree of similarity in serine-threonine kinase |subdomains, a glycine- and serine-rich region (called the GS domain) preceding the |kinase domain, and a short C-terminal tail. The protein (sometimes termed ALK1) |shares similar domain structures with 3 other closely related ALK proteins (ALK2, |ALK3, and ALK4) that together form a subfamily of receptor serine/threonine kinases. | ACVRL1 is most highly expressed in human placenta and lung. ACVRL1 deficiency causes |hemorrhagic telangiectasia type 2 (HHT2; MIM 600376) also known as Rendu-Osler-Weber |syndrome 2 (ORW2). CHR|12 PRD|Activin A receptor, type II-like kinase 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=410104 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=94[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:230240 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000020 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000020 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=410104 |http://www.geneclinics.org/query?mim=601284 DBL|UNIGENE:Hs.410104 |OMIM:601284 |SNP:94 |UWCM:230240.html ENZ|EC:2.7.1.37 |ATP binding ; GO:0005524 |receptor activity ; GO:0004872 |transforming growth factor-beta receptor activity ; GO:0005024 |transferase activity ; GO:0016740 MAP|12q11-q14 PHP|Hereditary hemorrhagic telangiectasia-2 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 885; expect == 0.0; MEOW:ref|NP_071886.1| (89%) |species == Mouse; gene == Acvrl1; score == 874; expect == 0.0; MEOW:MGgn0000113 (88%) |species == Human; gene == ACVR1; score == 565; expect == 2e-161; MEOW:HUgn0000090 (59%) |species == Zfish; gene == alk8; score == 555; expect == 1e-159; MEOW:ZFgn0000465 (59%) |species == Zfish; gene == acvrl1; score == 549; expect == 1e-156; MEOW:ZFgn0002643 (61%) |species == Fruitfly; gene == sax; score == 478; expect == 4e-135; MEOW:FBgn0003317 (49%) |species == Mosquito; score == 460; expect == 8e-130; MEOW:AGgn0020732 (47%) |species == Fruitfly; gene == babo; score == 417; expect == 7e-117; MEOW:FBgn0011300 (53%) |species == Mosquito; score == 402; expect == 1e-112; MEOW:AGgn0006764 (56%) |species == Mosquito; score == 396; expect == 1e-110; MEOW:AGgn0002247 (60%) |species == Mosquito; score == 389; expect == 2e-108; MEOW:AGgn0015057 (46%) |species == Worm; gene == sma-6; score == 241; expect == 1.2e-63; MEOW:CEgn0002563 (37%) |species == Worm; gene == daf-1; score == 223; expect == 1.3e-58; MEOW:CEgn0000344 (39%) } # EOR GENR { RETE|ID 1 HUgn0000095 CHR 1 3 DID 1 LocusLink:95 MAP 1 3p21.1 NAM 1 aminoacylase 1 ORG 1 Homo sapiens SYM 1 ACY1 ID|HUgn0000095 DID|LocusLink:95 ORG|Homo sapiens RSQ|REFSEQ:NM_000666 RPA|REFPROT:NP_000657 DBA|XM:NM_000666 |NA:BC000545 |NA:BC003023 |NA:BC014112 |NA:D14524 |NA:D16307 |NA:L07548 |NA:none PAC|XP:NP_000657 SYM|ACY1 NAM|aminoacylase 1 SYN|ACYLASE FNC|aminoacylase 1 |proteolysis and peptidolysis ; GO:0006508 |amino acid metabolism ; GO:0006520 REAB|Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the |hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been |postulated to function in the catabolism and salvage of acylated amino acids. ACY1 |has been assigned to chromosome 3p21.1, a region reduced to homozygosity in small-cell |lung cancer (SCLC), and its expression has been reported to be reduced or undetectable |in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 |is highly homologous to the porcine counterpart, and ACY1 is the first member of |a new family of zinc-binding enzymes. CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=334707 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=95[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118973 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000666 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000666 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=334707 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00220 DBL|UNIGENE:Hs.334707 |OMIM:104620 |SNP:95 ENZ|EC:3.5.1.14 |aminoacylase activity ; GO:0004046 |metallopeptidase activity ; GO:0008237 |hydrolase activity ; GO:0016787 MAP|3p21.1 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Acy1; score == 729; expect == 0.0; MEOW:MGgn0000114 (85%) |species == rat; score == 728; expect == 0.0; MEOW:ref|XP_217258.2| (88%) |species == Mosquito; gene == LOC19075; score == 392; expect == 1e-109; MEOW:AGgn0019075 (47%) |species == Fruitfly; gene == CG6465; score == 389; expect == 1e-108; MEOW:FBgn0037818 (49%) |species == Fruitfly; gene == CG6726; score == 382; expect == 2e-106; MEOW:FBgn0039049 (47%) |species == Worm; gene == C10C5.3; score == 378; expect == 4e-105; MEOW:CEgn0004544 (47%) |species == Worm; gene == C06A6.4; score == 375; expect == 3e-104; MEOW:CEgn0004155 (47%) |species == Worm; gene == C10C5.4; score == 374; expect == 5e-104; MEOW:CEgn0004545 (47%) |species == Worm; gene == C10C5.5; score == 372; expect == 2e-103; MEOW:CEgn0004546 (47%) |species == Fruitfly; gene == CG17110; score == 363; expect == 7e-101; MEOW:FBgn0039050 (46%) |species == Fruitfly; gene == CG6733; score == 355; expect == 3.2e-98; MEOW:FBgn0039052 (44%) |species == Fruitfly; gene == CG17109; score == 354; expect == 4.2e-98; MEOW:FBgn0039051 (45%) |species == Weed; gene == At4g38220; score == 349; expect == 2.5e-96; MEOW:ATgn0019492 (44%) |species == Fruitfly; gene == CG6738; score == 346; expect == 1.5e-95; MEOW:FBgn0039053 (44%) |species == rice; score == 329; expect == 4.3e-90; MEOW:gnl|TIGR|8356.m03890 (42%) |species == Weed; gene == At1g44820; score == 320; expect == 1.3e-87; MEOW:ATgn0004193 (40%) |species == Weed; gene == At1g44180; score == 313; expect == 8.4e-86; MEOW:ATgn0004089 (40%) |species == rice; score == 269; expect == 4.0e-72; MEOW:gnl|TIGR|8354.m00981 (40%) } # EOR GENR { RETE|ID 1 HUgn0000096 CHR 1 18 DID 1 LocusLink:96 MAP 1 18 NAM 1 aminoacylase 1-like ORG 1 Homo sapiens SYM 1 ACY1L ID|HUgn0000096 DID|LocusLink:96 ORG|Homo sapiens SYM|ACY1L NAM|aminoacylase 1-like SYN|AN CHR|18 PRD|91184800 MAP|18 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128121 } # EOR GENR { RETE|ID 1 HUgn0000097 CHR 1 14 DID 1 LocusLink:97 MAP 1 14q24.3 NAM 1 acylphosphatase 1, erythrocyte (common) type ORG 1 Homo sapiens SYM 1 ACYP1 ID|HUgn0000097 DID|LocusLink:97 ORG|Homo sapiens DBA|XM:XM_352906 |NA:BC035568 |NA:X84194 |NA:none PAC|XP:XP_352907 SYM|ACYP1 NAM|acylphosphatase 1, erythrocyte (common) type SYN|ACYPE REAB|Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the |carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called |muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue |localization CHR|14 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=18573 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=97[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:638808 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=BC035568 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=BC035568 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=18573 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 DBL|UNIGENE:Hs.18573 |OMIM:600875 |SNP:97 ENZ|EC:3.6.1.7 |acylphosphatase activity ; GO:0003998 |hydrolase activity ; GO:0016787 MAP|14q24.3 FNC|phosphate metabolism ; GO:0006796 HG|species == Mouse; gene == Acyp1; score == 189; expect == 1.0e-49; MEOW:MGgn0016182 (90%) |species == rat; score == 185; expect == 1.1e-47; MEOW:ref|XP_216757.2| (87%) } # EOR GENR { RETE|ID 1 HUgn0000098 CHR 1 2 DID 1 LocusLink:98 MAP 1 2p16.2 NAM 1 acylphosphatase 2, muscle type ORG 1 Homo sapiens SYM 1 ACYP2 ID|HUgn0000098 DID|LocusLink:98 ORG|Homo sapiens RSQ|REFSEQ:NM_138448 RPA|REFPROT:NP_612457 DBA|XM:NM_138448 |NA:BC012290 |NA:BF739886 |NA:X84195 |NA:none PAC|XP:NP_612457 SYM|ACYP2 NAM|acylphosphatase 2, muscle type SYN|ACYM |ACYP FNC|muscle-type acylphosphatase 2 REAB|Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane |pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal |muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte |acylphosphatase on the basis of their tissue localization. This gene encodes the |muscle-type isoform (MT). An increase of the MT isoform is associated with muscle |differentiation. CHR|2 PRD|acylphosphate phosphohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433071 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=98[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:304769 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_138448 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_138448 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=433071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 DBL|UNIGENE:Hs.433071 |OMIM:102595 |SNP:98 ENZ|EC:3.6.1.7 MAP|2p16.2 HG|species == Mouse; gene == Acyp2; score == 170; expect == 1.2e-43; MEOW:MGgn0019516 (88%) |species == rat; score == 129; expect == 3.2e-31; MEOW:ref|XP_216757.2| (60%) } # EOR GENR { RETE|ID 1 HUgn0000099 CHR 1 19 DID 1 LocusLink:99 MAP 1 19cen-q13.2 NAM 1 Alzheimer disease 2 (APOE*E4-associated, late onset) ORG 1 Homo sapiens SYM 1 AD2 ID|HUgn0000099 DID|LocusLink:99 ORG|Homo sapiens SYM|AD2 NAM|Alzheimer disease 2 (APOE*E4-associated, late onset) CHR|19 DBL|OMIM:104310 MAP|19cen-q13.2 PHP|Alzheimer disease-2, late onset URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118748 } # EOR GENR { RETE|ID 1 HUgn0000100 CHR 1 20 DID 1 LocusLink:100 MAP 1 20q12-q13.11 NAM 1 adenosine deaminase ORG 1 Homo sapiens SYM 1 ADA ID|HUgn0000100 DID|LocusLink:100 ORG|Homo sapiens RSQ|REFSEQ:NM_000022 RPA|REFPROT:NP_000013 DBA|XM:NM_000022 |NA:M13792 |NA:Z97053 |NA:AL832305 |NA:BC007678 |NA:BC040226 |NA:K00509 |NA:K02567 |NA:X02994 |NA:none PAC|XP:NP_000013 SYM|ADA NAM|adenosine deaminase FNC|adenosine deaminase |nucleotide metabolism ; GO:0009117 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 |purine ribonucleoside monophosphate biosynthesis ; GO:0009168 REAB|Adenosine deaminase catalyzes the hydrolysis of adenosine to inosine. ADA deficiency |causes one form of severe combined immunodeficiency disease (SCID), in which there |is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased |production of immunoglobulins. CHR|20 PRD|adenosine aminohydrolase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=407135 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=100[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119649 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000022 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000022 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=407135 |http://www.geneclinics.org/query?mim=102700 |http://www.ncbi.nlm.nih.gov/disease/SCImm.html |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.407135 |OMIM:102700 |SNP:100 ENZ|EC:3.5.4.4 |adenosine deaminase activity ; GO:0004000 |hydrolase activity ; GO:0016787 MAP|20q12-q13.11 PHP|Hemolytic anemia due to ADA excess |Severe combined immunodeficiency due to ADA deficiency HG|species == rat; score == 633; expect == 0.0; MEOW:ref|NP_569083.1| (85%) |species == Mouse; gene == Ada; score == 618; expect == 1e-177; MEOW:MGgn0000118 (83%) |species == Worm; gene == C06G3.5a; score == 243; expect == 1.1e-64; MEOW:CEgn0031625 (39%) |species == Worm; gene == C06G3.5b; score == 243; expect == 1.1e-64; MEOW:CEgn0031626 (39%) |species == ecoli; score == 155; expect == 3.8e-38; MEOW:ref|NP_416140.1| (33%) } # EOR GENR { RETE|ID 1 HUgn0000101 CHR 1 10 DID 1 LocusLink:101 MAP 1 10q26.3 NAM 1 a disintegrin and metalloproteinase domain 8 ORG 1 Homo sapiens SYM 1 ADAM8 ID|HUgn0000101 DID|LocusLink:101 ORG|Homo sapiens RSQ|REFSEQ:NM_001109 RPA|REFPROT:NP_001100 DBA|XM:NM_001109 |NA:D26579 |NA:none PAC|XP:NP_001100 SYM|ADAM8 NAM|a disintegrin and metalloproteinase domain 8 SYN|MS2 |CD156 FNC|a disintegrin and metalloproteinase domain 8 precursor |proteolysis and peptidolysis ; GO:0006508 REAB|Members of ADAM family are cell surface proteins with a unique structure possessing |both potential adhesion and protease domains. The extracellular region of ADAM8 |shows significant amino acid sequence homology to hemorrhagic snake venom proteins, |including the metalloprotease and disintegrin domains. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=86947 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=101[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:4573992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001109 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001109 DBL|UNIGENE:Hs.86947 |OMIM:602267 |SNP:101 |PROW:328103614 MAP|10q26.3 ENZ|zinc ion binding ; GO:0008270 |metalloendopeptidase activity ; GO:0004222 |hydrolase activity ; GO:0016787 CEL|proteoglycan integral to plasma membrane ; GO:0005888 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Adam8; score == 908; expect == 0.0; MEOW:MGgn0000135 (64%) |species == rat; score == 889; expect == 0.0; MEOW:ref|XP_219470.2| (63%) |species == Human; gene == ADAM12; score == 486; expect == 2e-137; MEOW:HUgn0008038 (39%) |species == Human; gene == ADAM28; score == 482; expect == 4e-136; MEOW:HUgn0010863 (41%) |species == Human; gene == ADAM19; score == 467; expect == 1e-131; MEOW:HUgn0008728 (40%) |species == Human; gene == ADAM33; score == 450; expect == 2e-126; MEOW:HUgn0080332 (41%) |species == Mosquito; gene == LOC22724; score == 308; expect == 3.5e-84; MEOW:AGgn0022724 (32%) |species == Fruitfly; gene == mmd; score == 297; expect == 1.2e-80; MEOW:FBgn0041109 (31%) |species == Mosquito; gene == LOC3886; score == 292; expect == 5.4e-79; MEOW:AGgn0003886 (35%) |species == Mosquito; gene == LOC5363; score == 282; expect == 6.6e-76; MEOW:AGgn0005363 (30%) |species == Mosquito; gene == LOC19737; score == 280; expect == 3.3e-75; MEOW:AGgn0019737 (33%) |species == Worm; gene == unc-71; score == 210; expect == 2.1e-54; MEOW:CEgn0002955 (28%) } # EOR GENR { RETE|ID 1 HUgn0000102 CHR 1 15 DID 1 LocusLink:102 MAP 1 15q2 NAM 1 a disintegrin and metalloproteinase domain 10 ORG 1 Homo sapiens SYM 1 ADAM10 ID|HUgn0000102 DID|LocusLink:102 ORG|Homo sapiens RSQ|REFSEQ:NM_001110 RPA|REFPROT:NP_001101 DBA|XM:NM_001110 |NA:AF009615 |NA:Z48579 |NA:none PAC|XP:NP_001101 SYM|ADAM10 NAM|a disintegrin and metalloproteinase domain 10 SYN|kuz |MADM |kuzbanian FNC|a disintegrin and metalloprotease domain 10 |proteolysis and peptidolysis ; GO:0006508 |cell-cell signaling ; GO:0007267 REAB|Members of ADAM family are cell surface proteins with a unique structure possessing |both potential adhesion and protease domains. ADAM10 possesses many of the properties |of a TNF-processing enzyme CHR|15 PRD|a disintegrin and metalloprotease domain 10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172028 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=102[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5952565 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001110 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001110 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24505 DBL|UNIGENE:Hs.172028 |OMIM:602192 |SNP:102 MAP|15q2 ENZ|zinc ion binding ; GO:0008270 |metalloendopeptidase activity ; GO:0004222 |hydrolase activity ; GO:0016787 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adam10; score == 1414; expect == 0.0; MEOW:MGgn0000119 (95%) |species == rat; score == 1243; expect == 0.0; MEOW:ref|XP_217197.2| (96%) |species == Mosquito; gene == LOC12370; score == 569; expect == 2e-162; MEOW:AGgn0012370 (42%) |species == Worm; gene == sup-17; score == 504; expect == 9e-143; MEOW:CEgn0002759 (38%) |species == Fruitfly; gene == CG1964; score == 464; expect == 6e-131; MEOW:FBgn0039688 (49%) |species == Fruitfly; gene == kuz; score == 453; expect == 1e-127; MEOW:FBgn0015954 (42%) |species == Human; gene == ADAM17; score == 256; expect == 2.5e-68; MEOW:HUgn0006868 (29%) } # EOR GENR { RETE|ID 1 HUgn0000103 CHR 1 1 DID 1 LocusLink:103 MAP 1 1q21.1-q21.2 NAM 1 adenosine deaminase, RNA-specific ORG 1 Homo sapiens SYM 1 ADAR ID|HUgn0000103 DID|LocusLink:103 ORG|Homo sapiens RSQ|REFSEQ:NM_001111 |REFSEQ:NM_015840 |REFSEQ:NM_015841 RPA|REFPROT:NP_001102 |REFPROT:NP_056655 |REFPROT:NP_056656 DBA|XM:NM_001111 |XM:NM_015840 |XM:NM_015841 |NA:U75503 |NA:BC017853 |NA:BC038227 |NA:BX538232 |NA:BX640741 |NA:U10439 |NA:U18121 |NA:X79448 |NA:X79449 |NA:X98559 |NA:none PAC|XP:NP_001102 |XP:NP_056655 |XP:NP_056656 SYM|ADAR NAM|adenosine deaminase, RNA-specific SYN|DSH |ADAR1 |DRADA |DSRAD FNC|adenosine deaminase, RNA-specific isoform ADAR-a |adenosine deaminase, RNA-specific isoform ADAR-b |adenosine deaminase, RNA-specific isoform ADAR-c |antimicrobial humoral response (sensu Invertebrata) ; GO:0006960 REAB|This gene encodes the enzyme responsible for RNA editing by site-specific deamination |of adenosines. This enzyme destabilizes double stranded RNA through conversion |of adenosine to inosine. Alternative splicing of this gene results in several transcript |variants, three which are characterized by deletion of exons 6 and/or 7. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=7957 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=103[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:439344 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001111 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001111 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=7957 DBL|UNIGENE:Hs.7957 |OMIM:601059 |SNP:103 MAP|1q21.1-q21.2 PHP|Dyschromatosis symmetrica hereditaria ENZ|double-stranded RNA adenosine deaminase activity ; GO:0003726 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1709; expect == 0.0; MEOW:ref|NP_112268.1| (75%) |species == Mouse; gene == Adar; score == 1679; expect == 0.0; MEOW:MGgn0014463 (74%) |species == Zfish; gene == adar; score == 850; expect == 0.0; MEOW:ZFgn0000858 (46%) |species == Human; gene == ADARB1; score == 262; expect == 1.0e-69; MEOW:HUgn0000104 (35%) |species == Human; gene == ADARB2; score == 250; expect == 4.1e-66; MEOW:HUgn0000105 (35%) |species == Fruitfly; gene == Adar; score == 246; expect == 2.9e-65; MEOW:FBgn0026086 (29%) |species == Mosquito; gene == LOC8096; score == 243; expect == 3.6e-64; MEOW:AGgn0008096 (35%) |species == Mosquito; score == 243; expect == 3.6e-64; MEOW:AGgn0027604 (35%) |species == Weed; gene == At1g01760; score == 142; expect == 1.9e-34; MEOW:ATgn0002412 (34%) } # EOR GENR { RETE|ID 1 HUgn0000104 CHR 1 21 DID 1 LocusLink:104 MAP 1 21q22.3 NAM 1 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) ORG 1 Homo sapiens SYM 1 ADARB1 ID|HUgn0000104 DID|LocusLink:104 ORG|Homo sapiens RSQ|REFSEQ:NM_001112 |REFSEQ:NM_015833 |REFSEQ:NM_015834 RPA|REFPROT:NP_001103 |REFPROT:NP_056648 |REFPROT:NP_056649 DBA|XM:NM_001112 |XM:NM_015833 |XM:NM_015834 |NA:Z95973 |NA:Z95974 |NA:Z95975 |NA:AF001042 |NA:AF525422 |NA:AF533142 |NA:AY082339 |NA:AY135659 |NA:U76420 |NA:U76421 |NA:U76422 |NA:U82120 |NA:U82121 |NA:X99227 |NA:X99383 |NA:none PAC|XP:NP_001103 |XP:NP_056648 |XP:NP_056649 SYM|ADARB1 NAM|adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) SYN|RED1 |ADAR2 |DRABA2 |DRADA2 FNC|RNA-specific adenosine deaminase B1 isoform DRABA2b |RNA-specific adenosine deaminase B1 isoform DRADA2a |RNA-specific adenosine deaminase B1 isoform DRADA2c |RNA processing ; GO:0006396 |central nervous system development ; GO:0007417 REAB|This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor |subunit B by site-specific deamination of adenosines. Alternative splicing of this |gene results in several transcript variants, three which have been characterized |by the presence or absence of an ALU cassette insert and a short or long C-terminal |region. CHR|21 PRD|RNA editase |human dsRNA adenosine deaminase DRADA2b URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=148822 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=104[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929206 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015833 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015833 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24556 DBL|UNIGENE:Hs.148822 |OMIM:601218 |SNP:104 MAP|21q22.3 ENZ|adenosine deaminase activity ; GO:0004000 |double-stranded RNA binding ; GO:0003725 |RNA binding ; GO:0003723 CEL|nucleus ; GO:0005634 HG|species == Human; gene == ADARB2; score == 686; expect == 0.0; MEOW:HUgn0000105 (52%) |species == rat; score == 674; expect == 0.0; MEOW:ref|NP_579836.1| (54%) |species == Mouse; gene == Adar3; score == 668; expect == 0.0; MEOW:MGgn0039507 (54%) |species == Zfish; gene == adarb1; score == 563; expect == 4e-161; MEOW:ZFgn0000861 (74%) |species == Fruitfly; gene == Adar; score == 486; expect == 2e-137; MEOW:FBgn0026086 (44%) |species == Mosquito; score == 472; expect == 2e-133; MEOW:AGgn0027604 (47%) |species == Mosquito; gene == LOC8096; score == 469; expect == 1e-132; MEOW:AGgn0008096 (46%) |species == Weed; gene == At1g01760; score == 137; expect == 1.0e-32; MEOW:ATgn0002412 (33%) } # EOR GENR { RETE|ID 1 HUgn0000105 CHR 1 10 DID 1 LocusLink:105 MAP 1 10p15.3 NAM 1 adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) ORG 1 Homo sapiens SYM 1 ADARB2 ID|HUgn0000105 DID|LocusLink:105 ORG|Homo sapiens RSQ|REFSEQ:NM_018702 RPA|REFPROT:NP_061172 DBA|XM:NM_018702 |NA:AF034837 |NA:AK055107 |NA:BC047443 PAC|XP:NP_061172 SYM|ADARB2 NAM|adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) SYN|RED2 |ADAR3 |hRED2 FNC|adenosine deaminase, RNA-specific, B2 |RNA processing ; GO:0006396 CHR|10 PRD|homolog of rat BLUE |double-stranded RNA specific adenosine deaminase |adenosine deaminase, RNA-specific, B2 (RED1 homolog rat) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=192731 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=105[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:3929209 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_018702 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_018702 DBL|UNIGENE:Hs.192731 |OMIM:602065 |SNP:105 MAP|10p15.3 CEL|intracellular ; GO:0005622 HG|species == Mouse; gene == Adar3; score == 1135; expect == 0.0; MEOW:MGgn0039507 (82%) |species == rat; score == 1133; expect == 0.0; MEOW:ref|NP_579836.1| (82%) |species == Human; gene == ADARB1; score == 686; expect == 0.0; MEOW:HUgn0000104 (52%) |species == Zfish; gene == adarb1; score == 436; expect == 7e-123; MEOW:ZFgn0000861 (56%) |species == Mosquito; score == 420; expect == 9e-118; MEOW:AGgn0027604 (39%) |species == Mosquito; gene == LOC8096; score == 419; expect == 2e-117; MEOW:AGgn0008096 (39%) |species == Fruitfly; gene == Adar; score == 402; expect == 2e-112; MEOW:FBgn0026086 (38%) |species == Weed; gene == At1g01760; score == 135; expect == 3.0e-32; MEOW:ATgn0002412 (31%) } # EOR GENR { RETE|ID 1 HUgn0000106 CHR 1 6 DID 1 LocusLink:106 MAP 1 6 NAM 1 adenosine deaminase complexing protein 1 ORG 1 Homo sapiens SYM 1 ADCP1 ID|HUgn0000106 DID|LocusLink:106 ORG|Homo sapiens SYM|ADCP1 NAM|adenosine deaminase complexing protein 1 CHR|6 DBL|OMIM:102710 MAP|6 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118975 } # EOR GENR { RETE|ID 1 HUgn0000107 CHR 1 7 DID 1 LocusLink:107 MAP 1 7p13-p12 NAM 1 adenylate cyclase 1 (brain) ORG 1 Homo sapiens SYM 1 ADCY1 ID|HUgn0000107 DID|LocusLink:107 ORG|Homo sapiens RSQ|REFSEQ:NM_021116 RPA|REFPROT:NP_066939 DBA|XM:NM_021116 |XM:NM_021116 |NA:AF497515 |NA:AK024415 |NA:AK055343 |NA:AK095518 |NA:AK095665 |NA:AL707720 |NA:AW956248 |NA:BC036858 |NA:BC041473 |NA:BU181704 |NA:L05500 |NA:none PAC|XP:NP_066939 |XP:NP_066939 SYM|ADCY1 NAM|adenylate cyclase 1 (brain) FNC|brain adenylate cyclase 1 REAB|This gene encodes a form of adenylate cyclase expressed in brain. A similar protein in mouse is involved in pattern formation of the brain. CHR|7 PRD|adenyl cyclase |ATP pyrophosphate-lyase |adenylate cyclase type I |3',5'-cyclic AMP synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=259768 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=107[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134407 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_021116 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_021116 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=259768 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.259768 |OMIM:103072 |SNP:107 ENZ|EC:4.6.1.1 MAP|7p13-p12 HG|species == rat; score == 1704; expect == 0.0; MEOW:ref|XP_223616.2| (83%) |species == Mosquito; score == 736; expect == 0.0; MEOW:AGgn0011824 (47%) |species == Human; gene == ADCY5; score == 712; expect == 0.0; MEOW:HUgn0000111 (44%) |species == Mouse; gene == Adcy6; score == 696; expect == 0.0; MEOW:MGgn0000150 (41%) |species == Human; gene == ADCY6; score == 695; expect == 0.0; MEOW:HUgn0000112 (43%) |species == Human; gene == ADCY8; score == 644; expect == 0.0; MEOW:HUgn0000114 (41%) |species == Mouse; gene == Adcy8; score == 644; expect == 0.0; MEOW:MGgn0000152 (42%) |species == Mouse; gene == Adcy2; score == 600; expect == 9e-172; MEOW:MGgn0000146 (37%) |species == Human; gene == ADCY2; score == 595; expect == 5e-170; MEOW:HUgn0000108 (37%) |species == Mouse; gene == Adcy7; score == 580; expect == 1e-165; MEOW:MGgn0000151 (38%) |species == Human; gene == ADCY4; score == 576; expect == 2e-164; MEOW:HUgn0196883 (39%) |species == Human; gene == ADCY7; score == 575; expect == 4e-164; MEOW:HUgn0000113 (39%) |species == Mouse; gene == Adcy4; score == 572; expect == 4e-163; MEOW:MGgn0000148 (39%) |species == Fruitfly; gene == rut; score == 459; expect == 6e-129; MEOW:FBgn0003301 (48%) |species == Fruitfly; gene == CG32158; score == 381; expect == 6e-106; MEOW:FBgn0052158 (44%) |species == Worm; gene == acy-4; score == 280; expect == 2.1e-75; MEOW:CEgn0028050 (37%) |species == Worm; gene == acy-2; score == 231; expect == 1.2e-60; MEOW:CEgn0000035 (40%) } # EOR GENR { RETE|ID 1 HUgn0000108 CHR 1 5 DID 1 LocusLink:108 MAP 1 5p15.3 NAM 1 adenylate cyclase 2 (brain) ORG 1 Homo sapiens SYM 1 ADCY2 ID|HUgn0000108 DID|LocusLink:108 ORG|Homo sapiens RSQ|REFSEQ:NM_020546 RPA|REFPROT:NP_065433 DBA|XM:NM_020546 |NA:AB028983 |NA:AF070583 |NA:AF410885 |NA:BE677757 |NA:BK000372 |NA:L21993 |NA:X74210 |NA:none PAC|XP:NP_065433 SYM|ADCY2 NAM|adenylate cyclase 2 (brain) SYN|HBAC2 |KIAA1060 FNC|adenylate cyclase 2 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes a member of the family of adenylate cyclases, which are membrane-associated |enzymes that catalyze the formation of the secondary messenger cyclic adenosine |monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated |by the G protein beta and gamma subunit complex. It is expressed in brain. CHR|5 PRD|adenylyl cyclase 2 |adenylate cyclase II |ATP pyrophosphate-lyase |type II adenylate cyclase |3',5'-cyclic AMP synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=414591 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=108[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_020546 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_020546 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.414591 |OMIM:103071 |SNP:108 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|5p15.3 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 2014; expect == 0.0; MEOW:ref|NP_112269.1| (95%) |species == Mouse; gene == Adcy2; score == 1983; expect == 0.0; MEOW:MGgn0000146 (94%) |species == Human; gene == ADCY4; score == 1112; expect == 0.0; MEOW:HUgn0196883 (56%) |species == Human; gene == ADCY7; score == 1055; expect == 0.0; MEOW:HUgn0000113 (55%) |species == Mosquito; gene == LOC17563; score == 616; expect == 2e-176; MEOW:AGgn0017563 (39%) |species == Mosquito; score == 560; expect == 1e-159; MEOW:AGgn0011824 (40%) |species == Mosquito; score == 540; expect == 2e-153; MEOW:AGgn0006240 (33%) |species == Mosquito; score == 532; expect == 3e-151; MEOW:AGgn0028531 (34%) |species == Mosquito; gene == LOC3469; score == 513; expect == 3e-145; MEOW:AGgn0003469 (33%) |species == Worm; gene == acy-4; score == 489; expect == 4e-138; MEOW:CEgn0028050 (36%) |species == Fruitfly; gene == Ac76E; score == 384; expect == 2e-106; MEOW:FBgn0004852 (39%) |species == Fruitfly; gene == rut; score == 353; expect == 6.4e-97; MEOW:FBgn0003301 (44%) |species == Fruitfly; gene == CG32158; score == 349; expect == 4.3e-96; MEOW:FBgn0052158 (36%) |species == Fruitfly; gene == ACXD; score == 320; expect == 3.0e-87; MEOW:FBgn0040507 (28%) |species == Fruitfly; gene == ACXB; score == 310; expect == 3.9e-84; MEOW:FBgn0040509 (27%) } # EOR GENR { RETE|ID 1 HUgn0000109 CHR 1 2 DID 1 LocusLink:109 MAP 1 2p24-p22 NAM 1 adenylate cyclase 3 ORG 1 Homo sapiens SYM 1 ADCY3 ID|HUgn0000109 DID|LocusLink:109 ORG|Homo sapiens RSQ|REFSEQ:NM_004036 RPA|REFPROT:NP_004027 DBA|XM:NM_004036 |NA:AB011083 |NA:AF033861 |NA:AF087963 |NA:AK027857 |NA:AK075424 |NA:AK095173 |NA:AK122926 |NA:none PAC|XP:NP_004027 SYM|ADCY3 NAM|adenylate cyclase 3 SYN|AC3 |KIAA0511 FNC|adenylate cyclase 3 |olfaction ; GO:0007608 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes |the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). |This protein appears to be widely expressed in various human tissues and may be |involved in a number of physiological and pathophysiological metabolic processes. CHR|2 PRD|ATP pyrophosphate-lyase |adenylyl cyclase, type III URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=188402 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=109[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371616 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004036 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004036 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0511 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA26 DBL|UNIGENE:Hs.188402 |OMIM:600291 |SNP:109 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|2p24-p22 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adcy3; score == 1915; expect == 0.0; MEOW:MGgn0000147 (94%) |species == rat; score == 1915; expect == 0.0; MEOW:ref|NP_570135.1| (94%) |species == Mosquito; gene == LOC3469; score == 692; expect == 0.0; MEOW:AGgn0003469 (38%) |species == Human; gene == ADCY8; score == 652; expect == 0.0; MEOW:HUgn0000114 (36%) |species == Fruitfly; gene == Ac3; score == 645; expect == 0.0; MEOW:FBgn0023416 (37%) |species == Human; gene == ADCY5; score == 596; expect == 2e-170; MEOW:HUgn0000111 (37%) |species == Human; gene == ADCY6; score == 591; expect == 9e-169; MEOW:HUgn0000112 (37%) |species == Human; gene == ADCY2; score == 545; expect == 4e-155; MEOW:HUgn0000108 (33%) |species == Worm; gene == acy-4; score == 275; expect == 6.9e-74; MEOW:CEgn0028050 (46%) } # EOR GENR { RETE|ID 1 HUgn0000111 CHR 1 3 DID 1 LocusLink:111 MAP 1 3q13.2-q21 NAM 1 adenylate cyclase 5 ORG 1 Homo sapiens SYM 1 ADCY5 ID|HUgn0000111 DID|LocusLink:111 ORG|Homo sapiens RSQ|REFSEQ:NM_183357 RPA|REFPROT:NP_899200 DBA|XM:XM_351567 |NA:AF497517 |NA:AK093840 |NA:AK098381 |NA:AK124691 |NA:BK000371 |NA:BX647739 |NA:U65473 |NA:none PAC|XP:XP_351568 SYM|ADCY5 NAM|adenylate cyclase 5 FNC|adenylate cyclase 5 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 CHR|3 PRD|adenylate cyclase, type V URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=9572 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=477365 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=111[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371619 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_183357 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_183357 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.9572 |UNIGENE:Hs.477365 |OMIM:600293 |SNP:111 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|3q13.2-q21 CEL|integral to membrane ; GO:0016021 HG|species == rat; score == 1871; expect == 0.0; MEOW:ref|NP_072122.1| (97%) |species == Human; gene == ADCY6; score == 1408; expect == 0.0; MEOW:HUgn0000112 (72%) |species == Mouse; gene == Adcy6; score == 1406; expect == 0.0; MEOW:MGgn0000150 (71%) |species == Mosquito; gene == LOC17563; score == 790; expect == 0.0; MEOW:AGgn0017563 (48%) |species == Mosquito; score == 711; expect == 0.0; MEOW:AGgn0011824 (46%) |species == Fruitfly; gene == Ac3; score == 512; expect == 2e-145; MEOW:FBgn0023416 (35%) |species == Fruitfly; gene == CG32158; score == 485; expect == 6e-137; MEOW:FBgn0052158 (48%) |species == Fruitfly; gene == rut; score == 422; expect == 1e-117; MEOW:FBgn0003301 (49%) |species == Worm; gene == acy-4; score == 328; expect == 8.9e-90; MEOW:CEgn0028050 (51%) } # EOR GENR { RETE|ID 1 HUgn0000112 CHR 1 12 DID 1 LocusLink:112 MAP 1 12q12-q13 NAM 1 adenylate cyclase 6 ORG 1 Homo sapiens SYM 1 ADCY6 ID|HUgn0000112 DID|LocusLink:112 ORG|Homo sapiens RSQ|REFSEQ:NM_015270 |REFSEQ:NM_020983 RPA|REFPROT:NP_056085 |REFPROT:NP_066193 DBA|XM:NM_015270 |XM:NM_020983 |NA:AF250227 |NA:AB007882 |NA:AF250226 |NA:U65474 |NA:none PAC|XP:NP_056085 |XP:NP_066193 SYM|ADCY6 NAM|adenylate cyclase 6 SYN|KIAA0422 FNC|adenylate cyclase 6 isoform a |adenylate cyclase 6 isoform b |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and |catalyzes the formation of the secondary messenger cyclic adenosine monophosphate |(cAMP). The expression of this gene is found in normal thyroid and brain tissues, |as well as some tumors; and its expression is significantly higher in one hyperfunctioning |thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript |variants. CHR|12 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=12373 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=112[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371620 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_015270 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_015270 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0422 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.12373 |OMIM:600294 |SNP:112 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|12q12-q13 CEL|integral to membrane ; GO:0016021 HG|species == Mouse; gene == Adcy6; score == 2091; expect == 0.0; MEOW:MGgn0000150 (94%) |species == rat; score == 2088; expect == 0.0; MEOW:ref|NP_036953.1| (93%) |species == Human; gene == ADCY5; score == 1408; expect == 0.0; MEOW:HUgn0000111 (72%) |species == Mosquito; gene == LOC17563; score == 802; expect == 0.0; MEOW:AGgn0017563 (48%) |species == Mosquito; score == 704; expect == 0.0; MEOW:AGgn0011824 (45%) |species == Fruitfly; gene == Ac3; score == 516; expect == 2e-146; MEOW:FBgn0023416 (34%) |species == Fruitfly; gene == CG32158; score == 499; expect == 2e-141; MEOW:FBgn0052158 (49%) |species == Worm; gene == acy-4; score == 326; expect == 3.8e-89; MEOW:CEgn0028050 (45%) } # EOR GENR { RETE|ID 1 HUgn0000113 CHR 1 16 DID 1 LocusLink:113 MAP 1 16q12-q13 NAM 1 adenylate cyclase 7 ORG 1 Homo sapiens SYM 1 ADCY7 ID|HUgn0000113 DID|LocusLink:113 ORG|Homo sapiens RSQ|REFSEQ:NM_001114 RPA|REFPROT:NP_001105 DBA|XM:NM_001114 |NA:BC039891 |NA:D25538 |NA:none PAC|XP:NP_001105 SYM|ADCY7 NAM|adenylate cyclase 7 SYN|KIAA0037 FNC|adenylate cyclase 7 |cAMP biosynthesis ; GO:0006171 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. The adenylyl cyclase enzyme family is characterized by the presence |of 12 membrane-spanning domains in its sequences CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=172199 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=113[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:371621 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001114 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001114 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=172199 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0037 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA28 DBL|UNIGENE:Hs.172199 |OMIM:600385 |SNP:113 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|16q12-q13 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 1616; expect == 0.0; MEOW:ref|XP_226333.2| (81%) |species == Mouse; gene == Adcy7; score == 1574; expect == 0.0; MEOW:MGgn0000151 (81%) |species == Human; gene == ADCY2; score == 1055; expect == 0.0; MEOW:HUgn0000108 (55%) |species == Human; gene == ADCY4; score == 925; expect == 0.0; MEOW:HUgn0196883 (52%) |species == Mosquito; score == 538; expect == 5e-153; MEOW:AGgn0011824 (39%) |species == Mosquito; score == 490; expect == 2e-138; MEOW:AGgn0028531 (33%) |species == Fruitfly; gene == Ac76E; score == 347; expect == 2.6e-95; MEOW:FBgn0004852 (38%) |species == Fruitfly; gene == rut; score == 318; expect == 1.8e-86; MEOW:FBgn0003301 (42%) |species == Fruitfly; gene == CG32158; score == 300; expect == 1.3e-81; MEOW:FBgn0052158 (48%) |species == Fruitfly; gene == ACXD; score == 292; expect == 1.2e-78; MEOW:FBgn0040507 (28%) |species == Fruitfly; gene == ACXB; score == 278; expect == 1.6e-74; MEOW:FBgn0040509 (27%) |species == Worm; gene == acy-4; score == 267; expect == 1.5e-71; MEOW:CEgn0028050 (47%) |species == Worm; gene == acy-2; score == 251; expect == 1.4e-66; MEOW:CEgn0000035 (41%) } # EOR GENR { RETE|ID 1 HUgn0000114 CHR 1 8 DID 1 LocusLink:114 MAP 1 8q24 NAM 1 adenylate cyclase 8 (brain) ORG 1 Homo sapiens SYM 1 ADCY8 ID|HUgn0000114 DID|LocusLink:114 ORG|Homo sapiens RSQ|REFSEQ:NM_001115 RPA|REFPROT:NP_001106 DBA|XM:NM_001115 |NA:M83533 |NA:Z35309 |NA:none PAC|XP:NP_001106 SYM|ADCY8 NAM|adenylate cyclase 8 (brain) SYN|ADCY3 |HBAC1 FNC|adenylate cyclase 8 |cAMP biosynthesis ; GO:0006171 |learning and/or memory ; GO:0007611 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. The enzymatic activity is under the control of several hormones, and |different polypeptides participate in the transduction of the signal from the receptor |to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact |with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity |of the catalytic subunit of the adenylyl cyclase CHR|8 PRD|Adenylyl cyclase-8, brain URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511773 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=114[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001115 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001115 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA29 DBL|UNIGENE:Hs.511773 |OMIM:103070 |SNP:114 ENZ|EC:4.6.1.1 |calcium/calmodulin-responsive adenylate cyclase activity ; GO:0008294 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 MAP|8q24 CEL|integral to membrane ; GO:0016021 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 2273; expect == 0.0; MEOW:ref|NP_058838.1| (96%) |species == Mouse; gene == Adcy8; score == 2269; expect == 0.0; MEOW:MGgn0000152 (96%) |species == Human; gene == ADCY5; score == 725; expect == 0.0; MEOW:HUgn0000111 (41%) |species == Human; gene == ADCY6; score == 720; expect == 0.0; MEOW:HUgn0000112 (40%) |species == Mosquito; score == 713; expect == 0.0; MEOW:AGgn0028531 (39%) |species == Mosquito; gene == LOC17563; score == 664; expect == 0.0; MEOW:AGgn0017563 (42%) |species == Human; gene == ADCY3; score == 652; expect == 0.0; MEOW:HUgn0000109 (36%) |species == Mosquito; score == 644; expect == 0.0; MEOW:AGgn0011824 (41%) |species == Human; gene == ADCY1; score == 644; expect == 0.0; MEOW:HUgn0000107 (41%) |species == Human; gene == ADCY2; score == 628; expect == 6e-180; MEOW:HUgn0000108 (37%) |species == Human; gene == ADCY4; score == 582; expect == 6e-166; MEOW:HUgn0196883 (38%) |species == Fruitfly; gene == Ac3; score == 570; expect == 1e-162; MEOW:FBgn0023416 (37%) |species == Worm; gene == acy-4; score == 525; expect == 3e-149; MEOW:CEgn0028050 (37%) } # EOR GENR { RETE|ID 1 HUgn0000115 CHR 1 16 DID 1 LocusLink:115 MAP 1 16p13.3 NAM 1 adenylate cyclase 9 ORG 1 Homo sapiens SYM 1 ADCY9 ID|HUgn0000115 DID|LocusLink:115 ORG|Homo sapiens RSQ|REFSEQ:NM_001116 RPA|REFPROT:NP_001107 DBA|XM:NM_001116 |NA:AB011092 |NA:AF036927 |NA:AJ133123 |NA:none PAC|XP:NP_001107 SYM|ADCY9 NAM|adenylate cyclase 9 FNC|adenylate cyclase 9 |cAMP biosynthesis ; GO:0006171 |protein folding ; GO:0006457 |intracellular signaling cascade ; GO:0007242 REAB|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic |AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein |kinases, and calcium. The type 9 adenylyl cyclase (AC9) is a widely distributed |adenylyl cyclase. ADCY9 is stimulated by beta-adrenergic receptor activation but |is insensitive to forskolin, calcium, and somatostatin. CHR|16 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=20196 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=115[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:139183 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001116 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001116 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.20196 |OMIM:603302 |SNP:115 ENZ|EC:4.6.1.1 |adenylate cyclase activity ; GO:0004016 |peptidyl-prolyl cis-trans isomerase activity ; GO:0003755 |guanylate cyclase activity ; GO:0004383 |magnesium ion binding ; GO:0000287 |lyase activity ; GO:0016829 |isomerase activity ; GO:0016853 MAP|16p13.3 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adcy9; score == 2123; expect == 0.0; MEOW:MGgn0000153 (92%) |species == rat; score == 1199; expect == 0.0; MEOW:ref|XP_220178.2| (91%) |species == Human; gene == ADCY4; score == 375; expect == 1e-103; MEOW:HUgn0196883 (32%) |species == Mosquito; gene == LOC19838; score == 370; expect == 4e-102; MEOW:AGgn0019838 (43%) |species == Worm; gene == acy-1; score == 362; expect == 4e-100; MEOW:CEgn0000034 (45%) |species == Fruitfly; gene == Ac13E; score == 359; expect == 2.9e-99; MEOW:FBgn0022710 (42%) |species == Mosquito; score == 353; expect == 2.3e-97; MEOW:AGgn0026355 (39%) } # EOR GENR { RETE|ID 1 HUgn0000116 CHR 1 18 DID 1 LocusLink:116 MAP 1 18p11 NAM 1 adenylate cyclase activating polypeptide 1 (pituitary) ORG 1 Homo sapiens SYM 1 ADCYAP1 ID|HUgn0000116 DID|LocusLink:116 ORG|Homo sapiens RSQ|REFSEQ:NM_001117 RPA|REFPROT:NP_001108 DBA|XM:NM_001117 |NA:X60435 |NA:Z64808 |NA:S83513 |NA:none PAC|XP:NP_001108 SYM|ADCYAP1 NAM|adenylate cyclase activating polypeptide 1 (pituitary) SYN|PACAP FNC|adenylate cyclase activating polypeptide precursor |adenylate cyclase activation ; GO:0007190 |pregnancy ; GO:0007565 |cell-cell signaling ; GO:0007267 REAB|This gene encodes adenylate cyclase activating polypeptide 1. Mediated by adenylate |cyclase activating polypeptide 1 receptors, this polypeptide stimulates adenylate |cyclase and subsequently increases the cAMP level in target cells. Adenylate cyclase |activating polypeptide 1 is not only a hypophysiotropic hormone, but also functions |as a neurotransmitter and neuromodulator. In addition, it plays a role in paracrine |and autocrine regulation of certain types of cells. This gene is composed of five |exons. Exons 1 and 2 encode the 5' UTR and signal peptide, respectively; exon 4 |encodes an adenylate cyclase activating polypeptide 1-related peptide; and exon |5 encodes the mature peptide and 3' UTR. This gene encodes three different mature |peptides, including two isotypes: a shorter form and a longer form. CHR|18 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=68137 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=116[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128626 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001117 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001117 DBL|UNIGENE:Hs.68137 |OMIM:102980 |SNP:116 MAP|18p11 ENZ|neuropeptide hormone activity ; GO:0005184 CEL|soluble fraction ; GO:0005625 |extracellular ; GO:0005576 HG|species == Zfish; gene == adcyap1; score == 132; expect == 7.6e-33; MEOW:ZFgn0002621 (47%) } # EOR GENR { RETE|ID 1 HUgn0000117 CHR 1 7 DID 1 LocusLink:117 MAP 1 7p14 NAM 1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I ORG 1 Homo sapiens SYM 1 ADCYAP1R1 ID|HUgn0000117 DID|LocusLink:117 ORG|Homo sapiens RSQ|REFSEQ:NM_001118 RPA|REFPROT:NP_001109 DBA|XM:NM_001118 |XM:NM_001118 |NA:U09216 |NA:AI815550 |NA:AY366498 |NA:D17516 |NA:none PAC|XP:NP_001109 |XP:NP_001109 SYM|ADCYAP1R1 NAM|adenylate cyclase activating polypeptide 1 (pituitary) receptor type I SYN|PACAPR |PACAPRI FNC|type I adenylate cyclase activating polypeptide receptor precursor |G-protein coupled receptor protein signaling pathway ; GO:0007186 |spermatogenesis ; GO:0007283 REAB|This gene encodes type I adenylate cyclase activating polypeptide receptor, which |is a membrane-associated protein and shares significant homology with members of |the glucagon/secretin receptor family. This receptor mediates diverse biological |actions of adenylate cyclase activating polypeptide 1 and is positively coupled |to adenylate cyclase. Alternative splicing of two exons of this gene generates four |major splice variants, but their full-length nature has not been determined. CHR|7 PRD|adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=377783 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=117[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:252253 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001118 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001118 DBL|UNIGENE:Hs.377783 |OMIM:102981 |SNP:117 MAP|7p14 ENZ|vasoactive intestinal polypeptide receptor activity ; GO:0004999 |G-protein coupled receptor activity ; GO:0004930 |receptor activity ; GO:0004872 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 854; expect == 0.0; MEOW:ref|NP_598195.1| (87%) |species == Mouse; gene == Adcyap1r1; score == 845; expect == 0.0; MEOW:MGgn0000155 (88%) |species == Human; gene == VIPR2; score == 425; expect == 3e-119; MEOW:HUgn0007434 (50%) |species == Human; gene == VIPR1; score == 399; expect == 1e-111; MEOW:HUgn0007433 (50%) |species == Human; gene == SCTR; score == 390; expect == 1e-108; MEOW:HUgn0006344 (50%) |species == Zfish; gene == pthr1; score == 277; expect == 1.2e-74; MEOW:ZFgn0000649 (38%) |species == Zfish; gene == pthr3; score == 241; expect == 9.9e-64; MEOW:ZFgn0000651 (33%) |species == Zfish; gene == pthr2; score == 226; expect == 3.5e-59; MEOW:ZFgn0000650 (31%) |species == Mosquito; score == 161; expect == 3.6e-40; MEOW:AGgn0014164 (28%) |species == Fruitfly; gene == CG12370; score == 148; expect == 3.8e-36; MEOW:FBgn0033744 (29%) |species == Fruitfly; gene == CG13758; score == 139; expect == 6.2e-33; MEOW:FBgn0040378 (30%) } # EOR GENR { RETE|ID 1 HUgn0000118 CHR 1 4 DID 1 LocusLink:118 MAP 1 4p16.3 NAM 1 adducin 1 (alpha) ORG 1 Homo sapiens SYM 1 ADD1 ID|HUgn0000118 DID|LocusLink:118 ORG|Homo sapiens RSQ|REFSEQ:NM_001119 |REFSEQ:NM_014189 |REFSEQ:NM_014190 |REFSEQ:NM_176801 RPA|REFPROT:NP_001110 |REFPROT:NP_054908 |REFPROT:NP_054909 |REFPROT:NP_789771 DBA|XM:NM_001119 |XM:NM_014189 |XM:NM_014190 |XM:NM_176801 |NA:L29296 |NA:Z74617 |NA:AK025413 |NA:BC013393 |NA:BC042998 |NA:D44632 |NA:L07261 |NA:S70312 |NA:S70314 |NA:X58141 |NA:none PAC|XP:NP_001110 |XP:NP_054908 |XP:NP_054909 |XP:NP_789771 SYM|ADD1 NAM|adducin 1 (alpha) SYN|ADDA |MGC3339 |MGC44427 FNC|adducin 1 (alpha) isoform a |adducin 1 (alpha) isoform b |adducin 1 (alpha) isoform c |adducin 1 (alpha) isoform d REAB|Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, |gamma). Adducin is a heterodimeric protein that consists of related subunits, which |are produced from distinct genes but share a similar structure. Alpha- and beta-adducin |include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic |C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, |beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin |binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases |A and C. Alternative splicing results in multiple variants encoding distinct isoforms; |however, not all variants have been fully described. CHR|4 PRD|erythrocyte adducin alpha subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=183706 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=118[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134672 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_176801 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_176801 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=183706 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA31 DBL|UNIGENE:Hs.183706 |OMIM:102680 |SNP:118 MAP|4p16.3 PHP|Hypertension, essential, salt-sensitive ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 |structural constituent of cytoskeleton ; GO:0005200 CEL|membrane ; GO:0016020 |actin cytoskeleton ; GO:0015629 HG|species == rat; score == 1203; expect == 0.0; MEOW:ref|NP_058686.1| (91%) |species == Mouse; gene == Add1; score == 1149; expect == 0.0; MEOW:MGgn0000156 (95%) |species == Human; gene == ADD3; score == 647; expect == 0.0; MEOW:HUgn0000120 (54%) |species == Human; gene == ADD2; score == 584; expect == 5e-167; MEOW:HUgn0000119 (52%) |species == Mosquito; gene == LOC13206; score == 409; expect == 4e-114; MEOW:AGgn0013206 (37%) |species == Fruitfly; gene == hts; score == 376; expect == 5e-104; MEOW:FBgn0004873 (37%) |species == Worm; gene == add-1; score == 359; expect == 2.5e-99; MEOW:CEgn0030738 (37%) } # EOR GENR { RETE|ID 1 HUgn0000119 CHR 1 2 DID 1 LocusLink:119 MAP 1 2p14-p13 NAM 1 adducin 2 (beta) ORG 1 Homo sapiens SYM 1 ADD2 ID|HUgn0000119 DID|LocusLink:119 ORG|Homo sapiens RSQ|REFSEQ:NM_001617 |REFSEQ:NM_017482 |REFSEQ:NM_017483 |REFSEQ:NM_017484 |REFSEQ:NM_017485 |REFSEQ:NM_017486 |REFSEQ:NM_017487 |REFSEQ:NM_017488 RPA|REFPROT:NP_001608 |REFPROT:NP_059516 |REFPROT:NP_059517 |REFPROT:NP_059518 |REFPROT:NP_059519 |REFPROT:NP_059520 |REFPROT:NP_059521 |REFPROT:NP_059522 DBA|XM:NM_001617 |XM:NM_017482 |XM:NM_017483 |XM:NM_017484 |XM:NM_017485 |XM:NM_017486 |XM:NM_017487 |XM:NM_017488 |NA:AC005234 |NA:AF001597 |NA:S81079 |NA:S81083 |NA:AF486420 |NA:BC008709 |NA:BC010237 |NA:BC011416 |NA:BC027876 |NA:BC041666 |NA:BC056881 |NA:U43959 |NA:X58199 |NA:none PAC|XP:NP_001608 |XP:NP_059516 |XP:NP_059517 |XP:NP_059518 |XP:NP_059519 |XP:NP_059520 |XP:NP_059521 |XP:NP_059522 SYM|ADD2 NAM|adducin 2 (beta) SYN|ADDB FNC|adducin 2 isoform a |adducin 2 isoform b |adducin 2 isoform c |adducin 2 isoform d |adducin 2 isoform e |adducin 2 isoform f |adducin 2 isoform g |adducin 2 isoform h REAB|Adducins are heteromeric proteins composed of different subunits referred to as adducin |alpha, beta and gamma. The three subunits are encoded by distinct genes and belong |to a family of membrane skeletal proteins involved in the assembly of spectrin-actin |network in erythrocytes and at sites of cell-cell contact in epithelial tissues. | While adducins alpha and gamma are ubiquitously expressed, the expression of adducin |beta is restricted to brain and hematopoietic tissues. Adducin, originally purified |from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. | Polymorphisms resulting in amino acid substitutions in these two subunits have |been associated with the regulation of blood pressure in an animal model of hypertension. | Heterodimers consisting of alpha and gamma subunits have also been described. |Structurally, each subunit is comprised of two distinct domains. The amino-terminal |region is protease resistant and globular in shape, while the carboxy-terminal region |is protease sensitive. The latter contains multiple phosphorylation sites for protein |kinase C, the binding site for calmodulin, and is required for association with |spectrin and actin. Various adducin beta mRNAs, alternatively spliced at 3'end |and/or internally spliced and encoding different isoforms, have been described. | The functions of all the different isoforms are not known. CHR|2 PRD|beta adducin |Adducin-2 (beta) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=113614 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=119[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135160 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_017488 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_017488 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=113614 DBL|UNIGENE:Hs.113614 |OMIM:102681 |SNP:119 MAP|2p14-p13 ENZ|actin binding ; GO:0003779 |calmodulin binding ; GO:0005516 CEL|membrane ; GO:0016020 |actin cytoskeleton ; GO:0015629 HG|species == Mouse; gene == Add2; score == 1251; expect == 0.0; MEOW:MGgn0000157 (92%) |species == rat; score == 1037; expect == 0.0; MEOW:ref|NP_036623.1| (92%) |species == Human; gene == ADD3; score == 690; expect == 0.0; MEOW:HUgn0000120 (52%) |species == Human; gene == ADD1; score == 584; expect == 5e-167; MEOW:HUgn0000118 (52%) |species == Mosquito; gene == LOC13206; score == 399; expect == 3e-111; MEOW:AGgn0013206 (36%) |species == Fruitfly; gene == hts; score == 355; expect == 2.2e-98; MEOW:FBgn0004873 (36%) |species == Worm; gene == add-1; score == 281; expect == 1.1e-75; MEOW:CEgn0030738 (30%) } # EOR GENR { RETE|ID 1 HUgn0000120 CHR 1 10 DID 1 LocusLink:120 MAP 1 10q24.2-q24.3 NAM 1 adducin 3 (gamma) ORG 1 Homo sapiens SYM 1 ADD3 ID|HUgn0000120 DID|LocusLink:120 ORG|Homo sapiens RSQ|REFSEQ:NM_016824 |REFSEQ:NM_019903 RPA|REFPROT:NP_058432 |REFPROT:NP_063968 DBA|XM:NM_016824 |XM:NM_019903 |NA:Y14372 |NA:BC021694 |NA:BC057285 |NA:BX647403 |NA:BX648016 |NA:D67031 |NA:U37122 |NA:none PAC|XP:NP_058432 |XP:NP_063968 SYM|ADD3 NAM|adducin 3 (gamma) SYN|ADDL FNC|adducin 3 isoform a |adducin 3 isoform b REAB|Adducins are heteromeric proteins composed of different subunits referred to as adducin |alpha, beta and gamma. The three subunits are encoded by distinct genes and belong |to a family of membrane skeletal proteins involved in the assembly of spectrin-actin |network in erythrocytes and at sites of cell-cell contact in epithelial tissues. | While adducins alpha and gamma are ubiquitously expressed, the expression of adducin |beta is restricted to brain and hematopoietic tissues. Adducin, originally purified |from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. | Polymorphisms resulting in amino acid substitutions in these two subunits have |been associated with the regulation of blood pressure in an animal model of hypertension. | Heterodimers consisting of alpha and gamma subunits have also been described. |Structurally, each subunit is comprised of two distinct domains. The amino-terminal |region is protease resistant and globular in shape, while the carboxy-terminal region |is protease sensitive. The latter contains multiple phosphorylation sites for protein |kinase C, the binding site for calmodulin, and is required for association with |spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different |isoforms have been described. The functions of the different isoforms are not known. CHR|10 PRD|adducin-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324470 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=120[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045066 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_016824 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_016824 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324470 DBL|UNIGENE:Hs.324470 |OMIM:601568 |SNP:120 MAP|10q24.2-q24.3 ENZ|calmodulin binding ; GO:0005516 |structural constituent of cytoskeleton ; GO:0005200 CEL|membrane ; GO:0016020 |cytoskeleton ; GO:0005856 HG|species == rat; score == 1202; expect == 0.0; MEOW:ref|XP_347206.1| (92%) |species == Mouse; gene == Add3; score == 1175; expect == 0.0; MEOW:MGgn0013336 (91%) |species == rat; score == 1166; expect == 0.0; MEOW:ref|XP_346590.1| (88%) |species == Human; gene == ADD2; score == 690; expect == 0.0; MEOW:HUgn0000119 (52%) |species == Human; gene == ADD1; score == 647; expect == 0.0; MEOW:HUgn0000118 (54%) |species == Mosquito; gene == LOC13206; score == 387; expect == 1e-107; MEOW:AGgn0013206 (34%) |species == Fruitfly; gene == hts; score == 360; expect == 7e-100; MEOW:FBgn0004873 (37%) |species == Worm; gene == add-1; score == 300; expect == 1.4e-81; MEOW:CEgn0030738 (34%) } # EOR GENR { RETE|ID 1 HUgn0000122 CHR 1 X DID 1 LocusLink:122 MAP 1 Xq25-q26 NAM 1 albinism-deafness syndrome ORG 1 Homo sapiens SYM 1 ADFN ID|HUgn0000122 DID|LocusLink:122 ORG|Homo sapiens SYM|ADFN NAM|albinism-deafness syndrome SYN|ALDS CHR|X DBL|OMIM:300700 MAP|Xq25-q26 PHP|Albinism-deafness syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118977 } # EOR GENR { RETE|ID 1 HUgn0000123 CHR 1 9 DID 1 LocusLink:123 MAP 1 9p22.1 NAM 1 adipose differentiation-related protein ORG 1 Homo sapiens SYM 1 ADFP ID|HUgn0000123 DID|LocusLink:123 ORG|Homo sapiens RSQ|REFSEQ:NM_001122 RPA|REFPROT:NP_001113 DBA|XM:NM_001122 |NA:AF443203 |NA:BC005127 |NA:BE311586 |NA:X97324 |NA:none PAC|XP:NP_001113 SYM|ADFP NAM|adipose differentiation-related protein SYN|ADRP |MGC10598 FNC|adipose differentiation-related protein REAB|Adipocyte differentiation-related protein is associated with the globule surface |membrane material. This protein is a major constituent of the globule surface. Increase |in mRNA levels is one of the earliest indications of adipocyte differentiation CHR|9 PRD|adipophilin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=3416 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=123[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:130960 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001122 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001122 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=3416 DBL|UNIGENE:Hs.3416 |OMIM:103195 |SNP:123 MAP|9p22.1 CEL|lipid particle ; GO:0005811 |membrane ; GO:0016020 |extracellular ; GO:0005576 |endoplasmic reticulum ; GO:0005783 HG|species == Mouse; gene == Adfp; score == 661; expect == 0.0; MEOW:MGgn0000158 (80%) |species == rat; score == 620; expect == 3e-178; MEOW:ref|XP_216438.2| (81%) |species == Human; gene == TIP47; score == 338; expect == 3.5e-93; MEOW:HUgn0010226 (43%) } # EOR GENR { RETE|ID 1 HUgn0000124 CHR 1 4 DID 1 LocusLink:124 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 1A (class I), alpha polypeptide ORG 1 Homo sapiens SYM 1 ADH1A ID|HUgn0000124 DID|LocusLink:124 ORG|Homo sapiens RSQ|REFSEQ:NM_000667 RPA|REFPROT:NP_000658 DBA|XM:NM_000667 |NA:M32656 |NA:M12271 |NA:M12963 |NA:none PAC|XP:NP_000658 SYM|ADH1A NAM|alcohol dehydrogenase 1A (class I), alpha polypeptide SYN|ADH1 FNC|class I alcohol dehydrogenase, alpha subunit |alcohol metabolism ; GO:0006066 REAB|This gene encodes class I alcohol dehydrogenase, alpha subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, |consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, |exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. |Three genes encoding alpha, beta and gamma subunits are tandemly organized in a |genomic segment as a gene cluster. This gene is monomorphic and predominant in fetal |and infant livers, whereas the genes encoding beta and gamma subunits are polymorphic |and strongly expressed in adult livers. CHR|4 PRD|ADH, alpha subunit |aldehyde reductase |alcohol dehydrogenase 1 (class I), alpha polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422855 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119650 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000667 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000667 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.422855 |OMIM:103700 |SNP:124 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ADH1C; score == 710; expect == 0.0; MEOW:HUgn0000126 (92%) |species == Human; gene == ADH1B; score == 709; expect == 0.0; MEOW:HUgn0000125 (92%) |species == Mouse; gene == Adh1; score == 644; expect == 0.0; MEOW:MGgn0000160 (83%) |species == rat; score == 621; expect == 2e-178; MEOW:ref|NP_062159.2| (80%) |species == rat; score == 537; expect == 3e-153; MEOW:ref|XP_346643.1| (67%) |species == Mouse; gene == Adh7; score == 536; expect == 5e-153; MEOW:MGgn0000167 (66%) |species == Zfish; gene == adh5; score == 491; expect == 1e-140; MEOW:ZFgn0002383 (62%) |species == Mosquito; score == 446; expect == 5e-126; MEOW:AGgn0020590 (58%) |species == Fruitfly; gene == Fdh; score == 414; expect == 2e-116; MEOW:FBgn0011768 (53%) |species == Worm; gene == H24K24.3a; score == 401; expect == 2e-112; MEOW:CEgn0030421 (52%) |species == Worm; gene == H24K24.3b; score == 396; expect == 6e-111; MEOW:CEgn0029527 (51%) |species == rice; score == 392; expect == 1e-109; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 391; expect == 3e-109; MEOW:ATgn0023742 (53%) |species == Weed; gene == ADH; score == 384; expect == 6e-107; MEOW:ATgn0002989 (50%) |species == rice; score == 376; expect == 2e-104; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 372; expect == 3e-103; MEOW:gnl|TIGR|8358.m00944 (49%) |species == rice; score == 367; expect == 2e-101; MEOW:gnl|TIGR|8358.m00945 (50%) |species == ecoli; score == 355; expect == 2.7e-99; MEOW:ref|NP_414890.1| (46%) |species == Yeast; gene == SFA1; score == 340; expect == 1.6e-94; MEOW:SGgn0002327 (45%) |species == Worm; gene == Y50D4C.2; score == 339; expect == 8.9e-94; MEOW:CEgn0028486 (50%) |species == Weed; gene == ADH; score == 335; expect == 1.9e-92; MEOW:ATgn0002166 (46%) |species == Weed; gene == ADH; score == 322; expect == 2.8e-88; MEOW:ATgn0003363 (44%) } # EOR GENR { RETE|ID 1 HUgn0000125 CHR 1 4 DID 1 LocusLink:125 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase IB (class I), beta polypeptide ORG 1 Homo sapiens SYM 1 ADH1B ID|HUgn0000125 DID|LocusLink:125 ORG|Homo sapiens RSQ|REFSEQ:NM_000668 RPA|REFPROT:NP_000659 DBA|XM:NM_000668 |NA:AF040967 |NA:L38290 |NA:M24308 |NA:M24316 |NA:M32657 |NA:X15447 |NA:AF153821 |NA:BC033009 |NA:BX647469 |NA:D00137 |NA:M21692 |NA:M24317 |NA:X03350 |NA:none PAC|XP:NP_000659 SYM|ADH1B NAM|alcohol dehydrogenase IB (class I), beta polypeptide SYN|ADH2 FNC|alcohol dehydrogenase 1B (class I), beta polypeptide |ethanol oxidation ; GO:0006069 REAB|The protein encoded by this gene is a member of the alcohol dehydrogenase family. |Members of this enzyme family metabolize a wide variety of substrates, including |ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation |products. This encoded protein, consisting of several homo- and heterodimers of |alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and |plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma |subunits are tandemly organized in a genomic segment as a gene cluster. CHR|4 PRD|ADH, beta subunit |aldehyde reductase |alcohol dehydrogenase 2 |alcohol dehydrogenase 2 (class I), beta polypeptide |alcohol dehydrogenase 1B (class I), beta polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=4 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=125[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119651 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000668 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000668 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=4 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24571 DBL|UNIGENE:Hs.4 |OMIM:103720 |SNP:125 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 PHP|Alcoholism, susceptibility to HG|species == Human; gene == ADH1C; score == 718; expect == 0.0; MEOW:HUgn0000126 (93%) |species == Human; gene == ADH1A; score == 709; expect == 0.0; MEOW:HUgn0000124 (92%) |species == Mouse; gene == Adh1; score == 646; expect == 0.0; MEOW:MGgn0000160 (82%) |species == rat; score == 629; expect == 0.0; MEOW:ref|NP_062159.2| (80%) |species == Mouse; gene == Adh7; score == 546; expect == 5e-156; MEOW:MGgn0000167 (67%) |species == rat; score == 537; expect == 3e-153; MEOW:ref|XP_346643.1| (68%) |species == Zfish; gene == adh5; score == 487; expect == 2e-139; MEOW:ZFgn0002383 (61%) |species == Mosquito; score == 450; expect == 3e-127; MEOW:AGgn0020590 (58%) |species == Fruitfly; gene == Fdh; score == 416; expect == 8e-117; MEOW:FBgn0011768 (53%) |species == Worm; gene == H24K24.3a; score == 401; expect == 2e-112; MEOW:CEgn0030421 (51%) |species == rice; score == 399; expect == 2e-111; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 398; expect == 3e-111; MEOW:ATgn0023742 (53%) |species == Worm; gene == H24K24.3b; score == 396; expect == 8e-111; MEOW:CEgn0029527 (50%) |species == Weed; gene == ADH; score == 390; expect == 8e-109; MEOW:ATgn0002989 (51%) |species == rice; score == 385; expect == 6e-107; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 381; expect == 6e-106; MEOW:gnl|TIGR|8358.m00944 (50%) |species == rice; score == 376; expect == 3e-104; MEOW:gnl|TIGR|8358.m00945 (50%) |species == ecoli; score == 366; expect == 2e-102; MEOW:ref|NP_414890.1| (47%) |species == Worm; gene == Y50D4C.2; score == 342; expect == 1.1e-94; MEOW:CEgn0028486 (49%) |species == Yeast; gene == SFA1; score == 341; expect == 9.6e-95; MEOW:SGgn0002327 (45%) |species == Weed; gene == ADH; score == 340; expect == 7.6e-94; MEOW:ATgn0002166 (46%) |species == Weed; gene == ADH; score == 329; expect == 1.3e-90; MEOW:ATgn0003363 (46%) |species == Weed; gene == ADH; score == 320; expect == 8.1e-88; MEOW:ATgn0030963 (44%) } # EOR GENR { RETE|ID 1 HUgn0000126 CHR 1 4 DID 1 LocusLink:126 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 1C (class I), gamma polypeptide ORG 1 Homo sapiens SYM 1 ADH1C ID|HUgn0000126 DID|LocusLink:126 ORG|Homo sapiens RSQ|REFSEQ:NM_000669 RPA|REFPROT:NP_000660 DBA|XM:NM_000669 |NA:M32658 |NA:M12272 |NA:X04299 |NA:X04350 |NA:none PAC|XP:NP_000660 SYM|ADH1C NAM|alcohol dehydrogenase 1C (class I), gamma polypeptide SYN|ADH3 FNC|class I alcohol dehydrogenase, gamma subunit |alcohol metabolism ; GO:0006066 REAB|This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, |consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, |exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. |Three genes encoding alpha, beta and gamma subunits are tandemly organized in a |genomic segment as a gene cluster. CHR|4 PRD|ADH, gamma subunit |aldehyde reductase |alcohol dehydrogenase 3 |alcohol dehydrogenase 3 (class I), gamma polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2523 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=126[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119652 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000669 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000669 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24572 DBL|UNIGENE:Hs.2523 |OMIM:103730 |SNP:126 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q23 CEL|cytoplasm ; GO:0005737 HG|species == Human; gene == ADH1B; score == 718; expect == 0.0; MEOW:HUgn0000125 (93%) |species == Human; gene == ADH1A; score == 710; expect == 0.0; MEOW:HUgn0000124 (92%) |species == Mouse; gene == Adh1; score == 635; expect == 0.0; MEOW:MGgn0000160 (85%) |species == rat; score == 614; expect == 4e-176; MEOW:ref|NP_062159.2| (81%) |species == Mouse; gene == Adh7; score == 513; expect == 4e-146; MEOW:MGgn0000167 (68%) |species == rat; score == 504; expect == 3e-143; MEOW:ref|XP_346643.1| (68%) |species == Zfish; gene == adh5; score == 458; expect == 1e-130; MEOW:ZFgn0002383 (62%) |species == Mosquito; score == 425; expect == 1e-119; MEOW:AGgn0020590 (58%) |species == rice; score == 393; expect == 1e-109; MEOW:gnl|TIGR|8351.m05482 (52%) |species == Weed; gene == ADHIII; score == 392; expect == 2e-109; MEOW:ATgn0023742 (53%) |species == Fruitfly; gene == Fdh; score == 387; expect == 3e-108; MEOW:FBgn0011768 (52%) |species == Worm; gene == H24K24.3a; score == 374; expect == 3e-104; MEOW:CEgn0030421 (51%) |species == rice; score == 370; expect == 9e-103; MEOW:gnl|TIGR|8358.m00944 (49%) |species == Worm; gene == H24K24.3b; score == 369; expect == 1e-102; MEOW:CEgn0029527 (51%) |species == Weed; gene == ADH; score == 368; expect == 3e-102; MEOW:ATgn0002989 (50%) |species == rice; score == 358; expect == 5.8e-99; MEOW:gnl|TIGR|8358.m00941 (49%) |species == rice; score == 356; expect == 1.0e-98; MEOW:gnl|TIGR|8358.m00945 (49%) |species == Weed; gene == ADH; score == 343; expect == 1.2e-94; MEOW:ATgn0002166 (46%) |species == ecoli; score == 332; expect == 1.9e-92; MEOW:ref|NP_414890.1| (47%) |species == Weed; gene == ADH; score == 323; expect == 9.7e-89; MEOW:ATgn0030963 (45%) |species == Yeast; gene == SFA1; score == 321; expect == 1.0e-88; MEOW:SGgn0002327 (46%) |species == Worm; gene == Y50D4C.2; score == 318; expect == 6.5e-87; MEOW:CEgn0028486 (50%) } # EOR GENR { RETE|ID 1 HUgn0000127 CHR 1 4 DID 1 LocusLink:127 MAP 1 4q21-q24 NAM 1 alcohol dehydrogenase 4 (class II), pi polypeptide ORG 1 Homo sapiens SYM 1 ADH4 ID|HUgn0000127 DID|LocusLink:127 ORG|Homo sapiens RSQ|REFSEQ:NM_000670 RPA|REFPROT:NP_000661 DBA|XM:NM_000670 |NA:X56411 |NA:X56419 |NA:BC022319 |NA:M15943 |NA:none PAC|XP:NP_000661 SYM|ADH4 NAM|alcohol dehydrogenase 4 (class II), pi polypeptide SYN|ADH-2 FNC|class II alcohol dehydrogenase 4 pi subunit |aldehyde metabolism ; GO:0006081 |ethanol oxidation ; GO:0006069 |alcohol metabolism ; GO:0006066 REAB|This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member |of the alcohol dehydrogenase family. Members of this enzyme family metabolize a |wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase |is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation |of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to |pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase |genes. CHR|4 PRD|aldehyde reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1219 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=127[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119653 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000670 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000670 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.1219 |OMIM:103740 |SNP:127 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |electron-transferring-flavoprotein dehydrogenase activity ; GO:0004174 |zinc ion binding ; GO:0008270 |oxidoreductase activity ; GO:0016491 MAP|4q21-q24 HG|species == Mouse; gene == Adh4; score == 580; expect == 2e-166; MEOW:MGgn0000170 (71%) |species == rat; score == 577; expect == 4e-165; MEOW:ref|NP_058966.1| (71%) |species == Zfish; gene == adh5; score == 492; expect == 7e-141; MEOW:ZFgn0002383 (64%) |species == Human; gene == ADH5; score == 488; expect == 3e-138; MEOW:HUgn0000128 (62%) |species == Mouse; gene == Adh5; score == 485; expect == 2e-137; MEOW:MGgn0000171 (61%) |species == Human; gene == ADH1B; score == 468; expect == 2e-132; MEOW:HUgn0000125 (60%) |species == Human; gene == ADH1A; score == 462; expect == 2e-130; MEOW:HUgn0000124 (60%) |species == Human; gene == LOC285802; score == 461; expect == 4e-130; MEOW:HUgn0285802 (59%) |species == Human; gene == ADH1C; score == 460; expect == 5e-130; MEOW:HUgn0000126 (59%) |species == Mosquito; score == 443; expect == 5e-125; MEOW:AGgn0020590 (55%) |species == Human; gene == ADH6; score == 443; expect == 1e-124; MEOW:HUgn0000130 (58%) |species == Human; gene == ADH7; score == 443; expect == 9e-125; MEOW:HUgn0000131 (58%) |species == Fruitfly; gene == Fdh; score == 428; expect == 1e-120; MEOW:FBgn0011768 (55%) |species == Weed; gene == ADHIII; score == 414; expect == 4e-116; MEOW:ATgn0023742 (54%) |species == rice; score == 411; expect == 1e-114; MEOW:gnl|TIGR|8351.m05482 (53%) |species == Worm; gene == H24K24.3a; score == 408; expect == 2e-114; MEOW:CEgn0030421 (51%) |species == Worm; gene == H24K24.3b; score == 405; expect == 2e-113; MEOW:CEgn0029527 (51%) |species == Human; gene == LOC343296; score == 396; expect == 9e-111; MEOW:HUgn0343296 (53%) |species == Weed; gene == ADH; score == 392; expect == 2e-109; MEOW:ATgn0002989 (49%) |species == rice; score == 382; expect == 4e-106; MEOW:gnl|TIGR|8358.m00944 (48%) |species == rice; score == 382; expect == 5e-106; MEOW:gnl|TIGR|8358.m00945 (50%) |species == rice; score == 372; expect == 5e-103; MEOW:gnl|TIGR|8358.m00941 (48%) |species == ecoli; score == 365; expect == 2e-102; MEOW:ref|NP_414890.1| (47%) |species == Worm; gene == Y50D4C.2; score == 355; expect == 2.2e-98; MEOW:CEgn0028486 (49%) |species == Yeast; gene == SFA1; score == 345; expect == 9.2e-96; MEOW:SGgn0002327 (48%) } # EOR GENR { RETE|ID 1 HUgn0000128 CHR 1 4 DID 1 LocusLink:128 MAP 1 4q21-q25 NAM 1 alcohol dehydrogenase 5 (class III), chi polypeptide ORG 1 Homo sapiens SYM 1 ADH5 ID|HUgn0000128 DID|LocusLink:128 ORG|Homo sapiens RSQ|REFSEQ:NM_000671 RPA|REFPROT:NP_000662 DBA|XM:NM_000671 |NA:M81112 |NA:M81118 |NA:BC014665 |NA:M29872 |NA:M30471 |NA:none PAC|XP:NP_000662 SYM|ADH5 NAM|alcohol dehydrogenase 5 (class III), chi polypeptide SYN|FDH |ADHX |ADH-3 FNC|class III alcohol dehydrogenase 5 chi subunit |ethanol oxidation ; GO:0006069 |alcohol metabolism ; GO:0006066 REAB|This gene encodes glutathione-dependent formaldehyde dehydrogenase or class III alcohol |dehydrogenase chi subunit, which is a member of the alcohol dehydrogenase family. |Members of this family metabolize a wide variety of substrates, including ethanol, |retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. |Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. It has |virtually no activity for ethanol oxidation, but exhibits high activity for oxidation |of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, |a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important |component of cellular metabolism for the elimination of formaldehyde, a potent irritant |and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact |dermatitis. CHR|4 PRD|formaldehyde dehydrogenase |glutathione-dependent formaldehyde dehydrogenase |Alcohol dehydrogenase (class III), chi polypeptide URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=78989 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=128[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119128 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118978 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000671 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000671 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=78989 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00680 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.78989 |OMIM:103710 |SNP:128 ENZ|EC:1.1.1.1 |EC:1.2.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |formaldehyde dehydrogenase (glutathione) activity ; GO:0004327 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |fatty acid binding ; GO:0005504 |oxidoreductase activity ; GO:0016491 MAP|4q21-q25 HG|species == Mouse; gene == Adh5; score == 661; expect == 0.0; MEOW:MGgn0000171 (92%) |species == Human; gene == LOC285802; score == 654; expect == 0.0; MEOW:HUgn0285802 (94%) |species == Zfish; gene == adh5; score == 609; expect == 9e-175; MEOW:ZFgn0002383 (81%) |species == Human; gene == LOC343296; score == 586; expect == 7e-168; MEOW:HUgn0343296 (85%) |species == Mosquito; score == 541; expect == 1e-154; MEOW:AGgn0020590 (74%) |species == Fruitfly; gene == Fdh; score == 535; expect == 1e-152; MEOW:FBgn0011768 (71%) |species == Weed; gene == ADHIII; score == 523; expect == 8e-149; MEOW:ATgn0023742 (68%) |species == rice; score == 516; expect == 8e-147; MEOW:gnl|TIGR|8351.m05482 (67%) |species == Worm; gene == H24K24.3a; score == 510; expect == 3e-145; MEOW:CEgn0030421 (69%) |species == Worm; gene == H24K24.3b; score == 505; expect == 9e-144; MEOW:CEgn0029527 (68%) |species == rat; score == 466; expect == 1e-131; MEOW:ref|NP_062159.2| (62%) |species == Worm; gene == Y50D4C.2; score == 461; expect == 5e-130; MEOW:CEgn0028486 (67%) |species == ecoli; score == 449; expect == 1e-126; MEOW:ref|NP_414890.1| (62%) |species == Yeast; gene == SFA1; score == 441; expect == 3e-124; MEOW:SGgn0002327 (63%) |species == rat; score == 434; expect == 5e-122; MEOW:ref|NP_058966.1| (56%) |species == rat; score == 427; expect == 6e-120; MEOW:ref|XP_346643.1| (59%) |species == rat; score == 411; expect == 3e-115; MEOW:ref|XP_215715.2| (53%) |species == rat; score == 393; expect == 8e-110; MEOW:ref|XP_227746.2| (57%) } # EOR GENR { RETE|ID 1 HUgn0000129 CHR 1 4 DID 1 LocusLink:129 MAP 1 4q21-q23 NAM 1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 ORG 1 Homo sapiens SYM 1 ADH5P1 ID|HUgn0000129 DID|LocusLink:129 CLA|Pseudogene ORG|Homo sapiens SYM|ADH5P1 NAM|alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 SYN|ADH-3P1 CHR|4 MAP|4q21-q23 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125362 } # EOR GENR { RETE|ID 1 HUgn0000130 CHR 1 4 DID 1 LocusLink:130 MAP 1 4q23 NAM 1 alcohol dehydrogenase 6 (class V) ORG 1 Homo sapiens SYM 1 ADH6 ID|HUgn0000130 DID|LocusLink:130 ORG|Homo sapiens RSQ|REFSEQ:NM_000672 RPA|REFPROT:NP_000663 DBA|XM:NM_000672 |NA:M84402 |NA:M84409 |NA:AJ278908 |NA:AK092768 |NA:BC039065 |NA:none PAC|XP:NP_000663 SYM|ADH6 NAM|alcohol dehydrogenase 6 (class V) SYN|ADH-5 FNC|class V alcohol dehydrogenase 6 REAB|This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol |dehydrogenase family. Members of this family metabolize a wide variety of substrates, |including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid |peroxidation products. This gene is expressed in the stomach as well as in the liver, |and it contains a glucocorticoid response element upstream of its 5' UTR, which |is a steroid hormone receptor binding site. The deduced amino acid sequence of the |open reading frame of this gene shows about 60% positional identity with other known |alcohol dehydrogenases. This gene may have a distinct physiologic function. CHR|4 PRD|aldehyde reductase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=429896 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=130[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:129087 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000672 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000672 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=429896 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.429896 |OMIM:103735 |SNP:130 ENZ|EC:1.1.1.1 MAP|4q23 HG|species == rat; score == 483; expect == 9e-137; MEOW:ref|XP_227746.2| (65%) |species == Human; gene == ADH1A; score == 477; expect == 5e-135; MEOW:HUgn0000124 (63%) |species == Human; gene == ADH1B; score == 476; expect == 9e-135; MEOW:HUgn0000125 (63%) |species == rat; score == 449; expect == 1e-126; MEOW:ref|NP_062159.2| (62%) |species == Mouse; gene == Adh1; score == 444; expect == 3e-125; MEOW:MGgn0000160 (62%) |species == Human; gene == ADH1C; score == 443; expect == 6e-125; MEOW:HUgn0000126 (63%) |species == Human; gene == ADH4; score == 443; expect == 1e-124; MEOW:HUgn0000127 (58%) |species == rat; score == 442; expect == 1e-124; MEOW:ref|XP_215715.2| (56%) |species == Mouse; gene == Adh7; score == 437; expect == 3e-123; MEOW:MGgn0000167 (60%) |species == Mouse; gene == Adh6a; score == 437; expect == 5e-123; MEOW:MGgn0018515 (55%) |species == Human; gene == ADH7; score == 434; expect == 5e-122; MEOW:HUgn0000131 (60%) |species == Human; gene == ADH5; score == 430; expect == 5e-121; MEOW:HUgn0000128 (59%) |species == rat; score == 429; expect == 1e-120; MEOW:ref|XP_346643.1| (60%) |species == Mouse; gene == Adh5; score == 420; expect == 4e-118; MEOW:MGgn0000171 (58%) |species == Zfish; gene == adh5; score == 418; expect == 1e-118; MEOW:ZFgn0002383 (58%) |species == Mosquito; score == 403; expect == 4e-113; MEOW:AGgn0020590 (55%) |species == Human; gene == LOC285802; score == 401; expect == 4e-112; MEOW:HUgn0285802 (56%) |species == Mouse; gene == Adh4; score == 398; expect == 2e-111; MEOW:MGgn0000170 (52%) |species == rat; score == 397; expect == 5e-111; MEOW:ref|NP_058966.1| (54%) |species == Weed; gene == ADHIII; score == 367; expect == 6e-102; MEOW:ATgn0023742 (49%) |species == rice; score == 365; expect == 2e-101; MEOW:gnl|TIGR|8351.m05482 (48%) |species == Fruitfly; gene == Fdh; score == 362; expect == 1e-100; MEOW:FBgn0011768 (50%) |species == Worm; gene == H24K24.3a; score == 344; expect == 4.6e-95; MEOW:CEgn0030421 (48%) |species == rice; score == 340; expect == 5.8e-94; MEOW:gnl|TIGR|8358.m00944 (46%) |species == Worm; gene == H24K24.3b; score == 339; expect == 1.5e-93; MEOW:CEgn0029527 (47%) |species == Weed; gene == ADH; score == 337; expect == 5.0e-93; MEOW:ATgn0030963 (45%) |species == Weed; gene == ADH; score == 335; expect == 2.4e-92; MEOW:ATgn0002989 (47%) |species == rice; score == 329; expect == 1.4e-90; MEOW:gnl|TIGR|8358.m00945 (45%) |species == rice; score == 325; expect == 5.4e-89; MEOW:gnl|TIGR|8358.m00941 (45%) |species == ecoli; score == 324; expect == 5.0e-90; MEOW:ref|NP_414890.1| (47%) |species == Weed; gene == ADH; score == 322; expect == 2.3e-88; MEOW:ATgn0002166 (43%) |species == Weed; gene == ADH; score == 305; expect == 2.2e-83; MEOW:ATgn0022042 (43%) |species == rice; score == 301; expect == 8.3e-82; MEOW:gnl|TIGR|8351.m03988 (41%) |species == Weed; gene == ADH; score == 298; expect == 4.2e-81; MEOW:ATgn0003363 (44%) |species == Worm; gene == Y50D4C.2; score == 294; expect == 3.2e-80; MEOW:CEgn0028486 (46%) |species == Yeast; gene == SFA1; score == 289; expect == 5.5e-79; MEOW:SGgn0002327 (44%) } # EOR GENR { RETE|ID 1 HUgn0000131 CHR 1 4 DID 1 LocusLink:131 MAP 1 4q23-q24 NAM 1 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ORG 1 Homo sapiens SYM 1 ADH7 ID|HUgn0000131 DID|LocusLink:131 ORG|Homo sapiens RSQ|REFSEQ:NM_000673 RPA|REFPROT:NP_000664 DBA|XM:NM_000673 |NA:L47166 |NA:U16286 |NA:U16293 |NA:L33179 |NA:S77168 |NA:U07821 |NA:U09623 |NA:X76342 |NA:none PAC|XP:NP_000664 SYM|ADH7 NAM|alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide SYN|ADH-4 FNC|class IV alcohol dehydrogenase 7 mu or sigma subunit |regulation of transcription, DNA-dependent ; GO:0006355 |ethanol oxidation ; GO:0006069 REAB|This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is |a member of the alcohol dehydrogenase family. Members of this family metabolize |a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, |hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene |is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; |thus it may participate in the synthesis of retinoic acid, a hormone important for |cellular differentiation. The expression of this gene is much more abundant in stomach |than liver, thus differing from the other known gene family members. CHR|4 PRD|Alcohol dehydrogenase-7 |gastric alcohol dehydrogenase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=389 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=131[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:362911 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000673 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000673 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.389 |OMIM:600086 |SNP:131 ENZ|EC:1.1.1.1 |alcohol dehydrogenase activity, zinc-dependent ; GO:0004024 |retinol dehydrogenase activity ; GO:0004745 |zinc ion binding ; GO:0008270 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|4q23-q24 HG|species == Mouse; gene == Adh7; score == 665; expect == 0.0; MEOW:MGgn0000167 (89%) |species == rat; score == 646; expect == 0.0; MEOW:ref|XP_346643.1| (87%) |species == Human; gene == ADH1B; score == 552; expect == 2e-157; MEOW:HUgn0000125 (68%) |species == Human; gene == ADH1A; score == 546; expect == 7e-156; MEOW:HUgn0000124 (68%) |species == Human; gene == ADH1C; score == 527; expect == 3e-150; MEOW:HUgn0000126 (69%) |species == Human; gene == ADH4; score == 443; expect == 9e-125; MEOW:HUgn0000127 (58%) |species == Zfish; gene == adh5; score == 440; expect == 4e-125; MEOW:ZFgn0002383 (59%) |species == Mosquito; score == 416; expect == 6e-117; MEOW:AGgn0020590 (57%) |species == Fruitfly; gene == Fdh; score == 381; expect == 2e-106; MEOW:FBgn0011768 (52%) |species == rice; score == 377; expect == 6e-105; MEOW:gnl|TIGR|8351.m05482 (51%) |species == Weed; gene == ADHIII; score == 375; expect == 3e-104; MEOW:ATgn0023742 (51%) |species == Worm; gene == H24K24.3a; score == 365; expect == 1e-101; MEOW:CEgn0030421 (51%) |species == Worm; gene == H24K24.3b; score == 360; expect == 4e-100; MEOW:CEgn0029527 (51%) |species == rice; score == 355; expect == 2.3e-98; MEOW:gnl|TIGR|8358.m00944 (47%) |species == Weed; gene == ADH; score == 341; expect == 3.6e-94; MEOW:ATgn0002166 (46%) |species == rice; score == 341; expect == 9.6e-94; MEOW:gnl|TIGR|8358.m00941 (48%) |species == Weed; gene == ADH; score == 339; expect == 2.2e-93; MEOW:ATgn0002989 (45%) |species == rice; score == 332; expect == 2.7e-91; MEOW:gnl|TIGR|8358.m00945 (46%) |species == ecoli; score == 328; expect == 3.5e-91; MEOW:ref|NP_414890.1| (46%) |species == Yeast; gene == SFA1; score == 317; expect == 1.9e-87; MEOW:SGgn0002327 (46%) |species == Worm; gene == Y50D4C.2; score == 312; expect == 2.0e-85; MEOW:CEgn0028486 (48%) |species == Weed; gene == ADH; score == 305; expect == 2.7e-83; MEOW:ATgn0003363 (44%) |species == Weed; gene == ADH; score == 300; expect == 6.8e-82; MEOW:ATgn0030963 (41%) } # EOR GENR { RETE|ID 1 HUgn0000132 CHR 1 10 DID 1 LocusLink:132 MAP 1 10q22 NAM 1 adenosine kinase ORG 1 Homo sapiens SYM 1 ADK ID|HUgn0000132 DID|LocusLink:132 ORG|Homo sapiens RSQ|REFSEQ:NM_001123 |REFSEQ:NM_006721 RPA|REFPROT:NP_001114 |REFPROT:NP_006712 DBA|XM:NM_001123 |XM:NM_006721 |NA:AI608983 |NA:BC003568 |NA:BM472149 |NA:BT006788 |NA:CB133126 |NA:U33936 |NA:U50196 |NA:U90338 |NA:U90339 |NA:none PAC|XP:NP_001114 |XP:NP_006712 SYM|ADK NAM|adenosine kinase SYN|AK FNC|adenosine kinase isoform a |adenosine kinase isoform b |ribonucleoside monophosphate biosynthesis ; GO:0009156 |purine salvage ; GO:0006166 REAB|This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The |enzyme catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby |serving as a regulator of concentrations of both extracellular adenosine and intracellular |adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, |respiratory, and immune systems and inhibitors of the enzyme could play an important |pharmacological role in increasing intravascular adenosine concentrations and acting |as anti-inflammatory agents. Alternative splicing results in two transcript variants |encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine |with identical kinetics and both require Mg2+ for activity. CHR|10 PRD|adenosine 5'-phosphotransferase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=355533 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=132[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118979 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001123 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001123 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=355533 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.355533 |OMIM:102750 |SNP:132 ENZ|EC:2.7.1.20 |adenosine kinase activity ; GO:0004001 |magnesium ion binding ; GO:0000287 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|10q22 HG|species == Mouse; gene == Adk; score == 639; expect == 0.0; MEOW:MGgn0000173 (90%) |species == rat; score == 629; expect == 0.0; MEOW:ref|NP_037027.1| (89%) |species == Weed; gene == At3g09820; score == 406; expect == 1e-113; MEOW:ATgn0013520 (57%) |species == Weed; gene == At5g03300; score == 405; expect == 2e-113; MEOW:ATgn0023907 (56%) |species == rice; score == 405; expect == 2e-113; MEOW:gnl|TIGR|8351.m03893 (57%) |species == rice; score == 370; expect == 1e-102; MEOW:gnl|TIGR|8352.m04029 (48%) |species == Fruitfly; gene == CG11255; score == 348; expect == 1.9e-96; MEOW:FBgn0036337 (52%) |species == Worm; gene == R07H5.8; score == 345; expect == 1.1e-95; MEOW:CEgn0014611 (50%) |species == Mosquito; gene == LOC16420; score == 326; expect == 1.3e-89; MEOW:AGgn0016420 (48%) |species == Yeast; gene == ADO1; score == 233; expect == 4.3e-62; MEOW:SGgn0003866 (39%) } # EOR GENR { RETE|ID 1 HUgn0000133 CHR 1 11 DID 1 LocusLink:133 MAP 1 11p15.4 NAM 1 adrenomedullin ORG 1 Homo sapiens SYM 1 ADM ID|HUgn0000133 DID|LocusLink:133 ORG|Homo sapiens RSQ|REFSEQ:NM_001124 RPA|REFPROT:NP_001115 DBA|XM:NM_001124 |NA:D43639 |NA:S73906 |NA:BC015961 |NA:D14874 |NA:none PAC|XP:NP_001115 SYM|ADM NAM|adrenomedullin SYN|AM FNC|adrenomedullin |progesterone biosynthesis ; GO:0006701 |cAMP biosynthesis ; GO:0006171 |response to wounding ; GO:0009611 |pregnancy ; GO:0007565 |regulation of transcription, DNA-dependent ; GO:0006355 |circulation ; GO:0008015 |excretion ; GO:0007588 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of |52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology |with the calcitonin gene-related peptide. It may function as a hormone in circulation |control because it is found in blood in a considerable concentration. The precursor, |called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human |adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic |ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing |TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 |and a cAMP-regulated enhancer element. CHR|11 PRD|preproadrenomedullin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=441047 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=133[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:217070 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001124 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001124 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=441047 DBL|UNIGENE:Hs.441047 |OMIM:103275 |SNP:133 MAP|11p15.4 ENZ|hormone activity ; GO:0005179 |DNA binding ; GO:0003677 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 |nucleus ; GO:0005634 HG|species == rat; score == 237; expect == 2.4e-63; MEOW:ref|NP_036847.1| (73%) |species == Mouse; gene == Adm; score == 218; expect == 1.3e-57; MEOW:MGgn0000174 (69%) } # EOR GENR { RETE|ID 1 HUgn0000134 CHR 1 1 DID 1 LocusLink:134 MAP 1 1q32.1 NAM 1 adenosine A1 receptor ORG 1 Homo sapiens SYM 1 ADORA1 ID|HUgn0000134 DID|LocusLink:134 ORG|Homo sapiens RSQ|REFSEQ:NM_000674 RPA|REFPROT:NP_000665 DBA|XM:NM_000674 |NA:AB004662 |NA:AK095060 |NA:AK127752 |NA:AY136746 |NA:BC026340 |NA:L22214 |NA:S45235 |NA:S56143 |NA:X68485 |NA:none PAC|XP:NP_000665 SYM|ADORA1 NAM|adenosine A1 receptor SYN|RDC7 FNC|adenosine A1 receptor |phagocytosis ; GO:0006909 |induction of apoptosis by extracellular signals ; GO:0008624 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |neurogenesis ; GO:0007399 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|There are 3 types of adenosine receptors, each of which contains 7 transmembrane |domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase |while the type A2 receptors stimulate activity. Each adenosine receptor has a specific |pattern of ligand binding and a unique tissue distribution. The human ADORA1 gene |consists of 6 exons of which the last 2 are part of the coding region. A study of |mRNAs from a range of human tissues revealed the existence of alternative splicing |within the 5' UTR. Transcripts containing exons 4, 5 and 6 were found in all tissues |while a distinct transcript containing exons 3, 5 and 6 was seen only in certain |tissues. No transcript contained both exons 3 and 4. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=77867 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=134[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126601 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000674 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000674 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=77867 DBL|UNIGENE:Hs.77867 |OMIM:102775 |SNP:134 MAP|1q32.1 CEL|integral to plasma membrane ; GO:0005887 ENZ|A1 adenosine receptor activity, G-protein coupled ; GO:0001610 |rhodopsin-like receptor activity ; GO:0001584 HG|species == Mouse; gene == Adora1; score == 504; expect == 2e-143; MEOW:MGgn0000178 (94%) |species == rat; score == 503; expect == 7e-143; MEOW:ref|NP_058851.1| (94%) |species == Human; gene == ADORA2B; score == 270; expect == 1.1e-72; MEOW:HUgn0000136 (47%) |species == Human; gene == ADORA3; score == 269; expect == 1.7e-72; MEOW:HUgn0000140 (48%) |species == Human; gene == ADORA2A; score == 259; expect == 2.5e-69; MEOW:HUgn0000135 (51%) |species == Fruitfly; gene == CG9753; score == 182; expect == 6.3e-46; MEOW:FBgn0039747 (34%) } # EOR GENR { RETE|ID 1 HUgn0000135 CHR 1 22 DID 1 LocusLink:135 MAP 1 22q11.23 NAM 1 adenosine A2a receptor ORG 1 Homo sapiens SYM 1 ADORA2A ID|HUgn0000135 DID|LocusLink:135 ORG|Homo sapiens RSQ|REFSEQ:NM_000675 RPA|REFPROT:NP_000666 DBA|XM:NM_000675 |NA:U20233 |NA:U40771 |NA:AK123058 |NA:AY136747 |NA:BC013780 |NA:BT006999 |NA:M97370 |NA:S46950 |NA:X68486 |NA:none PAC|XP:NP_000666 SYM|ADORA2A NAM|adenosine A2a receptor SYN|RDC8 |hA2aR |ADORA2 FNC|adenosine A2a receptor |phagocytosis ; GO:0006909 |cAMP biosynthesis ; GO:0006171 |adenylate cyclase activation ; GO:0007190 |sensory perception ; GO:0007600 |central nervous system development ; GO:0007417 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 |blood coagulation ; GO:0007596 |cellular defense response ; GO:0006968 |apoptosis ; GO:0006915 |cell-cell signaling ; GO:0007267 |inflammatory response ; GO:0006954 REAB|This gene encodes a protein which is one of several receptor subtypes for adenosine. |The activity of the encoded protein, a G-protein coupled receptor family member, |is mediated by G proteins which activate adenylyl cyclase. The encoded protein is |abundant in basal ganglia, vasculature and platelets and it is a major target of |caffeine. CHR|22 PRD|adenosine A2 receptor |adenosine receptor subtype A2a URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197029 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=135[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:126602 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000675 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000675 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=197029 DBL|UNIGENE:Hs.197029 |OMIM:102776 |SNP:135 MAP|22q11.23 ENZ|adenosine receptor ; GO:0008501 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 |plasma membrane ; GO:0005886 HG|species == rat; score == 625; expect == 1e-179; MEOW:ref|NP_445746.2| (82%) |species == Human; gene == ADORA2B; score == 381; expect == 3e-106; MEOW:HUgn0000136 (59%) |species == Mouse; gene == Adora2b; score == 372; expect == 1e-103; MEOW:MGgn0000180 (62%) |species == Fruitfly; gene == CG9753; score == 204; expect == 1.5e-52; MEOW:FBgn0039747 (36%) |species == Mosquito; gene == LOC20742; score == 199; expect == 2.2e-51; MEOW:AGgn0020742 (35%) } # EOR GENR { RETE|ID 1 HUgn0000136 CHR 1 17 DID 1 LocusLink:136 MAP 1 17p12-p11.2 NAM 1 adenosine A2b receptor ORG 1 Homo sapiens SYM 1 ADORA2B ID|HUgn0000136 DID|LocusLink:136 ORG|Homo sapiens RSQ|REFSEQ:NM_000676 RPA|REFPROT:NP_000667 DBA|XM:NM_000676 |NA:AY136748 |NA:BC025722 |NA:M97759 |NA:X68487 |NA:none PAC|XP:NP_000667 SYM|ADORA2B NAM|adenosine A2b receptor SYN|ADORA2 FNC|adenosine A2b receptor |activation of MAPK ; GO:0000187 |JNK cascade ; GO:0007254 |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |excretion ; GO:0007588 |cellular defense response ; GO:0006968 REAB|This gene encodes an adenosine receptor that is a member of the G protein-coupled |receptor superfamily. This integral membrane protein stimulates adenylate cyclase |activity in the presence of adenosine. This protein also interacts with netrin-1, |which is involved in axon elongation. The gene is located near the Smith-Magenis |syndrome region on chromosome 17. CHR|17 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=45743 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=136[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:136339 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000676 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000676 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=45743 DBL|UNIGENE:Hs.45743 |OMIM:600446 |SNP:136 MAP|17p12-p11.2 CEL|integral to plasma membrane ; GO:0005887 ENZ|rhodopsin-like receptor activity ; GO:0001584 |A2B adenosine receptor activity, G-protein coupled ; GO:0001612 HG|species == Mouse; gene == Adora2b; score == 590; expect == 3e-169; MEOW:MGgn0000180 (87%) |species == rat; score == 583; expect == 4e-167; MEOW:ref|NP_058857.1| (86%) |species == Human; gene == ADORA2A; score == 381; expect == 3e-106; MEOW:HUgn0000135 (59%) |species == Fruitfly; gene == CG9753; score == 176; expect == 3.4e-44; MEOW:FBgn0039747 (32%) |species == chimp; score == 142; expect == 6.4e-36; MEOW:sp|BAA94470|BAA94470 (33%) |species == chimp; score == 137; expect == 2.1e-34; MEOW:sp|Q8HZG3|Q8HZG3 (31%) } # EOR GENR { RETE|ID 1 HUgn0000137 CHR 1 1 DID 1 LocusLink:137 MAP 1 1q32 NAM 1 adenosine A2b receptor pseudogene ORG 1 Homo sapiens SYM 1 ADORA2BP ID|HUgn0000137 DID|LocusLink:137 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL022398 SYM|ADORA2BP NAM|adenosine A2b receptor pseudogene CHR|1 MAP|1q32 DBL|SNP:137 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:438199 } # EOR GENR { RETE|ID 1 HUgn0000138 CHR 1 10 DID 1 LocusLink:138 MAP 1 10q25.3-q26.3 NAM 1 adenosine A2 receptor-like 1 ORG 1 Homo sapiens SYM 1 ADORA2L1 ID|HUgn0000138 DID|LocusLink:138 ORG|Homo sapiens SYM|ADORA2L1 NAM|adenosine A2 receptor-like 1 SYN|ADORA2L CHR|10 DBL|OMIM:102777 MAP|10q25.3-q26.3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128572 } # EOR GENR { RETE|ID 1 HUgn0000139 CHR 1 1 DID 1 LocusLink:139 MAP 1 1q22 NAM 1 adenosine A2 receptor-like 2 ORG 1 Homo sapiens SYM 1 ADORA2L2 ID|HUgn0000139 DID|LocusLink:139 ORG|Homo sapiens SYM|ADORA2L2 NAM|adenosine A2 receptor-like 2 CHR|1 MAP|1q22 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:637785 } # EOR GENR { RETE|ID 1 HUgn0000140 CHR 1 1 DID 1 LocusLink:140 MAP 1 1p21-p13 NAM 1 adenosine A3 receptor ORG 1 Homo sapiens SYM 1 ADORA3 ID|HUgn0000140 DID|LocusLink:140 ORG|Homo sapiens RSQ|REFSEQ:NM_000677 RPA|REFPROT:NP_000668 DBA|XM:NM_000677 |NA:L77729 |NA:L77730 |NA:S81868 |NA:AY136749 |NA:BC029831 |NA:L20463 |NA:L22607 |NA:X76981 |NA:none PAC|XP:NP_000668 SYM|ADORA3 NAM|adenosine A3 receptor SYN|A3AR FNC|adenosine A3 receptor |regulation of heart rate ; GO:0008016 |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |signal transduction ; GO:0007165 |inflammatory response ; GO:0006954 REAB|There are 3 types of adenosine receptors, each of which contains 7 transmembrane |domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase |while the type A2 receptors stimulate activity. Each adenosine receptor has a specific |pattern of ligand binding and a unique tissue distribution. Adenosine released during |cardiac ischemia exerts a potent, protective effect in the heart. The adenosine |A3 receptor is expressed on cardiac ventricular cells, and its activation protects |the ventricular heart cell against injury during a subsequent exposure to ischemia. CHR|1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=258 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=140[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:249573 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000677 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000677 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=258 DBL|UNIGENE:Hs.258 |OMIM:600445 |SNP:140 MAP|1p21-p13 CEL|integral to plasma membrane ; GO:0005887 ENZ|A3 adenosine receptor activity, G-protein coupled ; GO:0001613 |rhodopsin-like receptor activity ; GO:0001584 HG|species == rat; score == 437; expect == 4e-123; MEOW:ref|NP_037028.1| (71%) |species == Human; gene == ADORA1; score == 269; expect == 1.7e-72; MEOW:HUgn0000134 (48%) |species == Mouse; gene == Adora1; score == 266; expect == 5.6e-72; MEOW:MGgn0000178 (48%) |species == Human; gene == ADORA2B; score == 229; expect == 1.6e-60; MEOW:HUgn0000136 (39%) |species == Mouse; gene == Adora2b; score == 221; expect == 5.6e-58; MEOW:MGgn0000180 (41%) |species == Human; gene == ADORA2A; score == 218; expect == 2.7e-57; MEOW:HUgn0000135 (41%) |species == Fruitfly; gene == CG9753; score == 174; expect == 2.2e-43; MEOW:FBgn0039747 (32%) |species == Mosquito; gene == LOC20742; score == 149; expect == 8.6e-37; MEOW:AGgn0020742 (33%) } # EOR GENR { RETE|ID 1 HUgn0000141 CHR 1 3 DID 1 LocusLink:141 MAP 1 3q13.31-q13.33 NAM 1 ADP-ribosylarginine hydrolase ORG 1 Homo sapiens SYM 1 ADPRH ID|HUgn0000141 DID|LocusLink:141 ORG|Homo sapiens RSQ|REFSEQ:NM_001125 RPA|REFPROT:NP_001116 DBA|XM:NM_001125 |NA:L13291 |NA:none PAC|XP:NP_001116 SYM|ADPRH NAM|ADP-ribosylarginine hydrolase FNC|ADP-ribosylarginine hydrolase |protein modification ; GO:0006464 REAB|In the ADP-ribosylation cycle, ADP-ribose amino acid hydrolases release ADP-ribose and regenerate an unmodified protein CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99884 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=141[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:226562 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001125 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001125 DBL|UNIGENE:Hs.99884 |OMIM:603081 |SNP:141 ENZ|EC:3.2.2.19 |ADP-ribosylarginine hydrolase activity ; GO:0003875 |magnesium ion binding ; GO:0000287 |hydrolase activity ; GO:0016787 MAP|3q13.31-q13.33 HG|species == rat; score == 636; expect == 0.0; MEOW:ref|XP_340990.1| (83%) |species == Mouse; gene == Adprh; score == 628; expect == 2e-180; MEOW:MGgn0000183 (82%) |species == Human; gene == ADPRHL1; score == 309; expect == 1.3e-84; MEOW:HUgn0113622 (45%) } # EOR GENR { RETE|ID 1 HUgn0000142 CHR 1 1 DID 1 LocusLink:142 MAP 1 1q41-q42 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) ORG 1 Homo sapiens SYM 1 ADPRT ID|HUgn0000142 DID|LocusLink:142 ORG|Homo sapiens RSQ|REFSEQ:NM_001618 RPA|REFPROT:NP_001609 DBA|XM:NM_001618 |NA:M29786 |NA:X56140 |NA:BC008660 |NA:BC014206 |NA:BC018620 |NA:BC021045 |NA:BC037545 |NA:J03473 |NA:M17081 |NA:M18112 |NA:M32721 |NA:none PAC|XP:NP_001609 SYM|ADPRT NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) SYN|PARP |PPOL |ADPRT1 |PARP-1 |pADPRT-1 FNC|poly(ADP-ribosyl)transferase |protein amino acid ADP-ribosylation ; GO:0006471 |cell growth and/or maintenance ; GO:0008151 |DNA repair ; GO:0006281 |transcription from Pol II promoter ; GO:0006366 REAB|This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which |modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is |dependent on DNA and is involved in the regulation of various important cellular |processes such as differentiation, proliferation, and tumor transformation and also |in the regulation of the molecular events involved in the recovery of cell from |DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, |and may participate in the pathophysiology of type I diabetes. CHR|1 PRD|poly(ADP-ribose) synthetase |ADP-ribosyltransferase NAD(+) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=177766 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=142[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119508 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001618 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001618 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=177766 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA32 DBL|UNIGENE:Hs.177766 |OMIM:173870 |SNP:142 ENZ|EC:2.4.2.30 |NAD ADP-ribosyltransferase activity ; GO:0003950 |DNA binding ; GO:0003677 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|1q41-q42 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Adprt1; score == 1722; expect == 0.0; MEOW:MGgn0000184 (91%) |species == rat; score == 1672; expect == 0.0; MEOW:ref|NP_037195.1| (89%) |species == Mosquito; score == 778; expect == 0.0; MEOW:AGgn0014723 (43%) |species == Fruitfly; gene == Parp; score == 743; expect == 0.0; MEOW:FBgn0010247 (41%) |species == Weed; gene == At2g31320; score == 614; expect == 7e-176; MEOW:ATgn0008538 (37%) |species == rice; score == 505; expect == 4e-143; MEOW:gnl|TIGR|8355.m02055 (33%) |species == Worm; gene == pme-1; score == 402; expect == 5e-112; MEOW:CEgn0022522 (43%) |species == Human; gene == ADPRTL2; score == 370; expect == 8e-103; MEOW:HUgn0010038 (40%) } # EOR GENR { RETE|ID 1 HUgn0000143 CHR 1 13 DID 1 LocusLink:143 MAP 1 13q11 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 ORG 1 Homo sapiens SYM 1 ADPRTL1 ID|HUgn0000143 DID|LocusLink:143 ORG|Homo sapiens RSQ|REFSEQ:NM_006437 RPA|REFPROT:NP_006428 DBA|XM:NM_006437 |NA:AF057160 |NA:AF158255 |NA:D79999 |NA:none PAC|XP:NP_006428 SYM|ADPRTL1 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 SYN|PH5P |p193 |PARPL |VPARP |VAULT3 |KIAA0177 FNC|poly(ADP-ribosyl)transferase-like 1 |protein amino acid ADP-ribosylation ; GO:0006471 |transport ; GO:0006810 |necrosis ; GO:0008220 |DNA repair ; GO:0006281 |inflammatory response ; GO:0006954 |response to drug ; GO:0042493 REAB|This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which contains a catalytic |domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein |has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, |but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic |domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding |DNA directly, its transferase activity may be activated by other factors such as |protein-protein interaction mediated by the extensive carboxyl terminus. CHR|13 PRD|PARP-related |H5 proline-rich |I-alpha-I-related |vault protein, 193-kDa |poly(ADP-ribose) synthetase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437959 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=143[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9836811 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_006437 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_006437 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0177 DBL|UNIGENE:Hs.437959 |OMIM:607519 |SNP:143 ENZ|EC:2.4.2.30 |NAD ADP-ribosyltransferase activity ; GO:0003950 |transferase activity, transferring glycosyl groups ; GO:0016757 MAP|13q11 CEL|nucleus ; GO:0005634 |ribonucleoprotein complex ; GO:0030529 HG|species == rat; score == 1771; expect == 0.0; MEOW:ref|XP_341327.1| (62%) |species == Human; gene == LOC144848; score == 863; expect == 0.0; MEOW:HUgn0144848 (71%) |species == Mouse; gene == 5830475I06Rik; score == 174; expect == 3.5e-43; MEOW:MGgn0026225 (26%) |species == Mouse; gene == AW551984; score == 144; expect == 2.6e-34; MEOW:MGgn0036933 (26%) } # EOR GENR { RETE|ID 1 HUgn0000144 CHR 1 13 DID 1 LocusLink:144 MAP 1 13q34 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1 ORG 1 Homo sapiens SYM 1 ADPRTP1 ID|HUgn0000144 DID|LocusLink:144 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL442128 SYM|ADPRTP1 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1 SYN|PPOLP1 CHR|13 MAP|13q34 DBL|SNP:144 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119509 } # EOR GENR { RETE|ID 1 HUgn0000145 CHR 1 14 DID 1 LocusLink:145 MAP 1 14q22 NAM 1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2 ORG 1 Homo sapiens SYM 1 ADPRTP2 ID|HUgn0000145 DID|LocusLink:145 CLA|Pseudogene ORG|Homo sapiens DBA|NA:AL137191 SYM|ADPRTP2 NAM|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2 SYN|PPOLP2 CHR|14 MAP|14q22 DBL|SNP:145 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119510 } # EOR GENR { RETE|ID 1 HUgn0000146 CHR 1 20 DID 1 LocusLink:146 MAP 1 20p13 NAM 1 adrenergic, alpha-1D-, receptor ORG 1 Homo sapiens SYM 1 ADRA1D ID|HUgn0000146 DID|LocusLink:146 ORG|Homo sapiens RSQ|REFSEQ:NM_000678 RPA|REFPROT:NP_000669 DBA|XM:NM_000678 |NA:D29952 |NA:L31772 |NA:M76446 |NA:S70782 |NA:U03864 |NA:none PAC|XP:NP_000669 SYM|ADRA1D NAM|adrenergic, alpha-1D-, receptor SYN|ADRA1 |ADRA1A |ADRA1R FNC|alpha-1D-adrenergic receptor |positive regulation of cell proliferation ; GO:0008284 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |development ; GO:0007275 |cell proliferation ; GO:0008283 |DNA metabolism ; GO:0006259 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar |to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron |that interrupts the coding region. CHR|20 PRD|adrenergic, alpha-1A-, receptor |adrenergic, alpha -1D-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=557 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=146[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118749 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000678 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000678 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24597 DBL|UNIGENE:Hs.557 |OMIM:104219 |SNP:146 MAP|20p13 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 744; expect == 0.0; MEOW:ref|NP_077809.1| (83%) |species == Mouse; gene == Adra1d; score == 616; expect == 9e-177; MEOW:MGgn0000189 (73%) |species == Human; gene == ADRA1B; score == 464; expect == 5e-131; MEOW:HUgn0000147 (66%) |species == Human; gene == ADRA1A; score == 414; expect == 5e-116; MEOW:HUgn0000148 (62%) |species == Fruitfly; gene == DopR; score == 211; expect == 5.9e-55; MEOW:FBgn0011582 (36%) |species == chimp; score == 210; expect == 1.0e-54; MEOW:sp|Q9N298|Q9N298 (31%) |species == chimp; score == 208; expect == 3.5e-54; MEOW:sp|Q8HZG3|Q8HZG3 (38%) |species == Mosquito; gene == LOC13461; score == 205; expect == 5.1e-53; MEOW:AGgn0013461 (34%) |species == Fruitfly; gene == DopR2; score == 202; expect == 3.2e-52; MEOW:FBgn0015129 (39%) |species == chimp; score == 199; expect == 1.7e-51; MEOW:sp|BAA94456|BAA94456 (34%) |species == Mosquito; gene == LOC12916; score == 190; expect == 1.4e-48; MEOW:AGgn0012916 (35%) |species == chimp; score == 183; expect == 1.9e-46; MEOW:sp|BAA94470|BAA94470 (33%) |species == Mosquito; score == 182; expect == 3.1e-46; MEOW:AGgn0025633 (34%) |species == Mosquito; gene == LOC1531; score == 178; expect == 7.0e-45; MEOW:AGgn0001531 (45%) |species == Mosquito; gene == LOC4731; score == 169; expect == 4.5e-42; MEOW:AGgn0004731 (45%) } # EOR GENR { RETE|ID 1 HUgn0000147 CHR 1 5 DID 1 LocusLink:147 MAP 1 5q23-q32 NAM 1 adrenergic, alpha-1B-, receptor ORG 1 Homo sapiens SYM 1 ADRA1B ID|HUgn0000147 DID|LocusLink:147 ORG|Homo sapiens RSQ|REFSEQ:NM_000679 RPA|REFPROT:NP_000670 DBA|XM:NM_000679 |NA:M99589 |NA:M99590 |NA:L31773 |NA:U03865 |NA:none PAC|XP:NP_000670 SYM|ADRA1B NAM|adrenergic, alpha-1B-, receptor SYN|ADRA1 FNC|alpha-1B-adrenergic receptor |protein kinase cascade ; GO:0007243 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |development ; GO:0007275 |cell proliferation ; GO:0008283 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces |neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell |lines. Thus, this normal cellular gene is identified as a protooncogene. This gene |comprises 2 exons and a single large intron of at least 20 kb that interrupts the |coding region. CHR|5 PRD|adrenergic, alpha -1B-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=416813 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=147[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127901 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000679 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000679 DBL|UNIGENE:Hs.416813 |OMIM:104220 |SNP:147 MAP|5q23-q32 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra1b; score == 964; expect == 0.0; MEOW:MGgn0000187 (94%) |species == Human; gene == ADRA1D; score == 464; expect == 5e-131; MEOW:HUgn0000146 (66%) |species == rat; score == 459; expect == 2e-129; MEOW:ref|NP_077809.1| (65%) |species == Human; gene == ADRA1A; score == 453; expect == 2e-127; MEOW:HUgn0000148 (62%) |species == rat; score == 446; expect == 1e-125; MEOW:ref|NP_058887.1| (62%) |species == Fruitfly; gene == DopR2; score == 237; expect == 6.1e-63; MEOW:FBgn0015129 (37%) |species == Mosquito; gene == LOC12916; score == 229; expect == 2.1e-60; MEOW:AGgn0012916 (38%) |species == chimp; score == 224; expect == 1.7e-60; MEOW:sp|Q9N298|Q9N298 (31%) |species == Mosquito; gene == LOC12908; score == 220; expect == 7.3e-58; MEOW:AGgn0012908 (35%) |species == Fruitfly; gene == CG6919; score == 215; expect == 2.5e-56; MEOW:FBgn0038980 (37%) |species == Fruitfly; gene == DopR; score == 213; expect == 1.6e-55; MEOW:FBgn0011582 (36%) |species == Fruitfly; gene == 5-HT7; score == 212; expect == 2.7e-55; MEOW:FBgn0004573 (34%) |species == chimp; score == 208; expect == 1.6e-55; MEOW:sp|Q9N2D9|Q9N2D9 (32%) |species == chimp; score == 207; expect == 2.1e-55; MEOW:sp|BAA94456|BAA94456 (36%) |species == Mosquito; score == 204; expect == 4.1e-53; MEOW:AGgn0018804 (35%) |species == chimp; score == 201; expect == 2.0e-53; MEOW:sp|Q8HZG3|Q8HZG3 (34%) |species == chimp; score == 198; expect == 1.3e-52; MEOW:sp|BAA94470|BAA94470 (34%) |species == chimp; score == 194; expect == 1.4e-51; MEOW:sp|Q9N2B6|Q9N2B6 (32%) |species == Worm; gene == ser-2; score == 188; expect == 3.8e-48; MEOW:CEgn0031307 (30%) |species == chimp; score == 188; expect == 1.3e-49; MEOW:sp|Q8HZF9|Q8HZF9 (36%) |species == Worm; gene == F14D12.6; score == 186; expect == 2.5e-47; MEOW:CEgn0008433 (30%) |species == Worm; gene == dop-1; score == 186; expect == 1.4e-47; MEOW:CEgn0030879 (34%) |species == Worm; gene == ser-7; score == 166; expect == 1.5e-41; MEOW:CEgn0004438 (30%) |species == Zfish; gene == si:bz20i5.4; score == 132; expect == 2.4e-32; MEOW:ZFgn0013193 (27%) } # EOR GENR { RETE|ID 1 HUgn0000148 CHR 1 8 DID 1 LocusLink:148 MAP 1 8p21-p11.2 NAM 1 adrenergic, alpha-1A-, receptor ORG 1 Homo sapiens SYM 1 ADRA1A ID|HUgn0000148 DID|LocusLink:148 ORG|Homo sapiens RSQ|REFSEQ:NM_000680 |REFSEQ:NM_033302 |REFSEQ:NM_033303 |REFSEQ:NM_033304 RPA|REFPROT:NP_000671 |REFPROT:NP_150645 |REFPROT:NP_150646 |REFPROT:NP_150647 DBA|XM:NM_000680 |XM:NM_033302 |XM:NM_033303 |XM:NM_033304 |NA:U03866 |NA:U08994 |NA:AF013261 |NA:AF395806 |NA:D25235 |NA:D32201 |NA:D32202 |NA:L31774 |NA:S76001 |NA:U02569 |NA:none PAC|XP:NP_000671 |XP:NP_150645 |XP:NP_150646 |XP:NP_150647 SYM|ADRA1A NAM|adrenergic, alpha-1A-, receptor SYN|ADRA1C |ADRA1L1 FNC|alpha-1A-adrenergic receptor isoform 1 |alpha-1A-adrenergic receptor isoform 2 |alpha-1A-adrenergic receptor isoform 3 |alpha-1A-adrenergic receptor isoform 4 |protein kinase cascade ; GO:0007243 |negative regulation of cell proliferation ; GO:0008285 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |smooth muscle contraction ; GO:0006939 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 |cell-cell signaling ; GO:0007267 REAB|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor |superfamily. They activate mitogenic responses and regulate growth and proliferation |of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which |signal through the Gq/11 family of G-proteins and different subtypes show different |patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative |splicing of this gene generates 4 transcript variants, which encode 4 different |isoforms with distinct C termini but having similar ligand binding properties. CHR|8 PRD|adrenergic, alpha-1C-, receptor |adrenergic, alpha -1A-, receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=52931 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=148[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128088 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_033303 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_033303 DBL|UNIGENE:Hs.52931 |OMIM:104221 |SNP:148 MAP|8p21-p11.2 ENZ|alpha1-adrenergic receptor activity ; GO:0004937 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 837; expect == 0.0; MEOW:ref|NP_058887.1| (92%) |species == Mouse; gene == Adra1a; score == 825; expect == 0.0; MEOW:MGgn0000188 (91%) |species == Human; gene == ADRA1B; score == 453; expect == 2e-127; MEOW:HUgn0000147 (62%) |species == Human; gene == ADRA1D; score == 414; expect == 5e-116; MEOW:HUgn0000146 (62%) |species == Fruitfly; gene == DopR2; score == 225; expect == 2.1e-59; MEOW:FBgn0015129 (37%) |species == Fruitfly; gene == DopR; score == 214; expect == 7.0e-56; MEOW:FBgn0011582 (34%) |species == chimp; score == 211; expect == 7.3e-55; MEOW:sp|BAA94456|BAA94456 (37%) |species == Mosquito; gene == LOC12908; score == 210; expect == 1.6e-54; MEOW:AGgn0012908 (33%) |species == Mosquito; gene == LOC12916; score == 210; expect == 1.7e-54; MEOW:AGgn0012916 (35%) |species == chimp; score == 207; expect == 1.0e-53; MEOW:sp|Q8HZG3|Q8HZG3 (37%) |species == Fruitfly; gene == CG6919; score == 195; expect == 4.4e-50; MEOW:FBgn0038980 (36%) |species == chimp; score == 192; expect == 3.1e-49; MEOW:sp|BAA94470|BAA94470 (34%) |species == chimp; score == 191; expect == 1.4e-50; MEOW:sp|Q9N2D9|Q9N2D9 (35%) |species == Fruitfly; gene == 5-HT7; score == 190; expect == 9.7e-49; MEOW:FBgn0004573 (31%) |species == chimp; score == 189; expect == 5.2e-50; MEOW:sp|Q9N2B6|Q9N2B6 (34%) |species == Mosquito; gene == LOC4047; score == 172; expect == 1.5e-43; MEOW:AGgn0004047 (36%) |species == Mosquito; gene == LOC4731; score == 172; expect == 2.6e-43; MEOW:AGgn0004731 (43%) |species == Mosquito; score == 172; expect == 2.5e-43; MEOW:AGgn0025633 (33%) |species == Mosquito; gene == LOC1444; score == 168; expect == 2.9e-42; MEOW:AGgn0001444 (32%) |species == Worm; gene == C52B11.3; score == 153; expect == 1.2e-37; MEOW:CEgn0006972 (38%) |species == Worm; gene == F14D12.6; score == 149; expect == 2.9e-36; MEOW:CEgn0008433 (36%) |species == Worm; gene == ser-3; score == 133; expect == 1.3e-31; MEOW:CEgn0013056 (39%) } # EOR GENR { RETE|ID 1 HUgn0000150 CHR 1 10 DID 1 LocusLink:150 MAP 1 10q24-q26 NAM 1 adrenergic, alpha-2A-, receptor ORG 1 Homo sapiens SYM 1 ADRA2A ID|HUgn0000150 DID|LocusLink:150 ORG|Homo sapiens RSQ|REFSEQ:NM_000681 RPA|REFPROT:NP_000672 DBA|XM:NM_000681 |NA:AF262016 |NA:AF281308 |NA:AF316894 |NA:AY032736 |NA:M18415 |NA:M23533 |NA:AF284095 |NA:BC035047 |NA:BC050414 |NA:none PAC|XP:NP_000672 SYM|ADRA2A NAM|adrenergic, alpha-2A-, receptor SYN|ADRA2 |ADRAR |ZNF32 |ADRA2R FNC|alpha-2A-adrenergic receptor |activation of MAPK ; GO:0000187 |negative regulation of adenylate cyclase activity ; GO:0007194 |Rho protein signal transduction ; GO:0007266 |positive regulation of cell proliferation ; GO:0008284 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |RAS protein signal transduction ; GO:0007265 |cell motility ; GO:0006928 |signal transduction ; GO:0007165 |actin cytoskeleton organization and biogenesis ; GO:0030036 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. Studies in mouse |revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic |control of transmitter release from sympathetic nerves in the heart and from central |noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high |stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission |at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains |no introns in either its coding or untranslated sequences. CHR|10 PRD|alpha-2AAR subtype C10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=249159 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=150[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120538 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000681 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000681 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=249159 DBL|UNIGENE:Hs.249159 |OMIM:104210 |SNP:150 MAP|10q24-q26 ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |potassium channel regulator activity ; GO:0015459 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra2a; score == 712; expect == 0.0; MEOW:MGgn0000190 (92%) |species == rat; score == 406; expect == 1e-113; MEOW:ref|NP_612515.1| (52%) |species == Human; gene == ADRA2C; score == 402; expect == 2e-112; MEOW:HUgn0000152 (51%) |species == Human; gene == ADRA2B; score == 391; expect == 4e-109; MEOW:HUgn0000151 (51%) |species == rat; score == 384; expect == 8e-107; MEOW:ref|XP_346669.1| (51%) |species == Mosquito; gene == LOC4731; score == 206; expect == 1.2e-53; MEOW:AGgn0004731 (34%) |species == chimp; score == 201; expect == 6.4e-52; MEOW:sp|Q9N298|Q9N298 (32%) |species == Worm; gene == ser-2; score == 199; expect == 1.8e-51; MEOW:CEgn0031307 (33%) |species == Mosquito; gene == LOC12908; score == 177; expect == 4.6e-45; MEOW:AGgn0012908 (40%) |species == Fruitfly; gene == TyrR; score == 177; expect == 8.1e-45; MEOW:FBgn0004514 (41%) |species == Mosquito; score == 175; expect == 2.3e-44; MEOW:AGgn0003015 (48%) |species == Mosquito; gene == LOC18839; score == 172; expect == 5.1e-43; MEOW:AGgn0018839 (27%) |species == Mosquito; gene == LOC12916; score == 171; expect == 3.3e-43; MEOW:AGgn0012916 (43%) |species == Fruitfly; gene == CG18208; score == 169; expect == 1.7e-42; MEOW:FBgn0038653 (46%) |species == Fruitfly; gene == 5-HT7; score == 163; expect == 9.3e-41; MEOW:FBgn0004573 (40%) |species == chimp; score == 162; expect == 6.6e-42; MEOW:sp|BAA94456|BAA94456 (38%) |species == Fruitfly; gene == DopR2; score == 155; expect == 2.5e-38; MEOW:FBgn0015129 (41%) |species == Fruitfly; gene == CG16766; score == 151; expect == 6.3e-37; MEOW:FBgn0038541 (41%) |species == Fruitfly; gene == CG7431; score == 146; expect == 1.5e-35; MEOW:FBgn0038542 (40%) } # EOR GENR { RETE|ID 1 HUgn0000151 CHR 1 2 DID 1 LocusLink:151 MAP 1 2p13-q13 NAM 1 adrenergic, alpha-2B-, receptor ORG 1 Homo sapiens SYM 1 ADRA2B ID|HUgn0000151 DID|LocusLink:151 ORG|Homo sapiens RSQ|REFSEQ:NM_000682 RPA|REFPROT:NP_000673 DBA|XM:NM_000682 |NA:AF005900 |NA:AF316895 |NA:M34041 |NA:M38742 |NA:none PAC|XP:NP_000673 SYM|ADRA2B NAM|adrenergic, alpha-2B-, receptor SYN|ADRA2L1 |ADRARL1 |ADRA2RL1 FNC|alpha-2B-adrenergic receptor |G-protein coupled receptor protein signaling pathway ; GO:0007186 |cell-cell signaling ; GO:0007267 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. This gene encodes |the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide |exchange protein that functions in regulation of translation. A polymorphic variant |of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat |element, was identified to have decreased G protein-coupled receptor kinase-mediated |phosphorylation and desensitization; this polymorphic form is also associated with |reduced basal metabolic rate in obese subjects and may therefore contribute to the |pathogenesis of obesity. This gene contains no introns in either its coding or untranslated |sequences. CHR|2 PRD|alpha-2-adrenergic receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=247686 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=151[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120539 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000682 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000682 DBL|UNIGENE:Hs.247686 |OMIM:104260 |SNP:151 MAP|2p13-q13 ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 696; expect == 0.0; MEOW:ref|XP_346669.1| (83%) |species == Mouse; gene == Adra2b; score == 678; expect == 0.0; MEOW:MGgn0000191 (82%) |species == Human; gene == ADRA2A; score == 391; expect == 4e-109; MEOW:HUgn0000150 (51%) |species == Human; gene == ADRA2C; score == 375; expect == 2e-104; MEOW:HUgn0000152 (52%) |species == Mosquito; gene == LOC4731; score == 208; expect == 4.1e-54; MEOW:AGgn0004731 (33%) |species == Mosquito; gene == LOC12916; score == 170; expect == 9.6e-43; MEOW:AGgn0012916 (45%) |species == Mosquito; gene == LOC12908; score == 169; expect == 1.2e-42; MEOW:AGgn0012908 (43%) |species == Fruitfly; gene == TyrR; score == 166; expect == 1.4e-41; MEOW:FBgn0004514 (46%) |species == Fruitfly; gene == 5-HT7; score == 159; expect == 1.3e-39; MEOW:FBgn0004573 (42%) |species == Fruitfly; gene == CG7431; score == 153; expect == 9.6e-38; MEOW:FBgn0038542 (47%) |species == Worm; gene == F14D12.6; score == 150; expect == 1.7e-36; MEOW:CEgn0008433 (40%) |species == chimp; score == 150; expect == 2.6e-38; MEOW:sp|Q9N298|Q9N298 (41%) |species == Worm; gene == dop-1; score == 149; expect == 2.1e-36; MEOW:CEgn0030879 (42%) |species == Fruitfly; gene == CG18208; score == 149; expect == 2.4e-36; MEOW:FBgn0038653 (50%) |species == Worm; gene == ser-2; score == 143; expect == 1.2e-34; MEOW:CEgn0031307 (40%) |species == Fruitfly; gene == CG16766; score == 142; expect == 2.2e-34; MEOW:FBgn0038541 (42%) |species == chimp; score == 142; expect == 7.0e-36; MEOW:sp|Q9N2B6|Q9N2B6 (40%) |species == chimp; score == 139; expect == 5.9e-35; MEOW:sp|BAA94456|BAA94456 (35%) |species == Fruitfly; gene == DopR2; score == 138; expect == 4.2e-33; MEOW:FBgn0015129 (40%) |species == Worm; gene == ser-3; score == 136; expect == 1.9e-32; MEOW:CEgn0013056 (40%) |species == chimp; score == 136; expect == 3.9e-34; MEOW:sp|BAC10668|BAC10668 (39%) |species == Fruitfly; gene == DopR; score == 135; expect == 2.7e-32; MEOW:FBgn0011582 (39%) |species == Worm; gene == ser-7; score == 134; expect == 7.1e-32; MEOW:CEgn0004438 (42%) |species == chimp; score == 126; expect == 5.2e-31; MEOW:sp|Q9N2D9|Q9N2D9 (38%) } # EOR GENR { RETE|ID 1 HUgn0000152 CHR 1 4 DID 1 LocusLink:152 MAP 1 4p16 NAM 1 adrenergic, alpha-2C-, receptor ORG 1 Homo sapiens SYM 1 ADRA2C ID|HUgn0000152 DID|LocusLink:152 ORG|Homo sapiens RSQ|REFSEQ:NM_000683 RPA|REFPROT:NP_000674 DBA|XM:NM_000683 |NA:AF280399 |NA:AF280400 |NA:D13538 |NA:U72648 |NA:X72924 |NA:J03853 |NA:none PAC|XP:NP_000674 SYM|ADRA2C NAM|adrenergic, alpha-2C-, receptor SYN|ADRA2L2 |ADRARL2 |ADRA2RL2 FNC|alpha-2C-adrenergic receptor |activation of MAPK ; GO:0000187 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |behavior ; GO:0007610 |cell-cell signaling ; GO:0007267 REAB|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. |They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These |receptors have a critical role in regulating neurotransmitter release from sympathetic |nerves and from adrenergic neurons in the central nervous system. The mouse studies |revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic |control of transmitter release from sympathetic nerves in the heart and from central |noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high |stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission |at lower levels of nerve activity. This gene encodes the alpha2C subtype, which |contains no introns in either its coding or untranslated sequences. CHR|4 PRD|alpha2-AR-C4 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=123022 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=152[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120540 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000683 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000683 DBL|UNIGENE:Hs.123022 |OMIM:104250 |SNP:152 MAP|4p16 PHP|Congestive heart failure, susceptibility to ENZ|alpha2-adrenergic receptor activity ; GO:0004938 |rhodopsin-like receptor activity ; GO:0001584 |adrenoceptor activity ; GO:0004935 CEL|endosome ; GO:0005768 |integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adra2c; score == 601; expect == 3e-172; MEOW:MGgn0000192 (86%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_612515.1| (87%) |species == Human; gene == ADRA2A; score == 402; expect == 2e-112; MEOW:HUgn0000150 (51%) |species == Human; gene == ADRA2B; score == 375; expect == 2e-104; MEOW:HUgn0000151 (52%) |species == chimp; score == 226; expect == 1.4e-59; MEOW:sp|Q9N298|Q9N298 (35%) |species == Mosquito; gene == LOC12908; score == 219; expect == 3.4e-57; MEOW:AGgn0012908 (35%) |species == Mosquito; gene == LOC4731; score == 213; expect == 2.1e-55; MEOW:AGgn0004731 (34%) |species == Fruitfly; gene == 5-HT7; score == 194; expect == 8.5e-50; MEOW:FBgn0004573 (33%) |species == Mosquito; gene == LOC1531; score == 186; expect == 2.0e-47; MEOW:AGgn0001531 (32%) |species == Worm; gene == ser-1; score == 161; expect == 1.3e-39; MEOW:CEgn0022833 (31%) |species == Worm; gene == F14D12.6; score == 140; expect == 1.7e-33; MEOW:CEgn0008433 (39%) |species == Worm; gene == ser-2; score == 136; expect == 1.5e-32; MEOW:CEgn0031307 (43%) |species == Worm; gene == dop-1; score == 132; expect == 3.6e-31; MEOW:CEgn0030879 (40%) } # EOR GENR { RETE|ID 1 HUgn0000153 CHR 1 10 DID 1 LocusLink:153 MAP 1 10q24-q26 NAM 1 adrenergic, beta-1-, receptor ORG 1 Homo sapiens SYM 1 ADRB1 ID|HUgn0000153 DID|LocusLink:153 ORG|Homo sapiens RSQ|REFSEQ:NM_000684 RPA|REFPROT:NP_000675 DBA|XM:NM_000684 |NA:J03019 |NA:none PAC|XP:NP_000675 SYM|ADRB1 NAM|adrenergic, beta-1-, receptor SYN|RHR |B1AR |ADRB1R FNC|beta-1-adrenergic receptor |adenylate cyclase activation ; GO:0007190 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic |family of guanine nucleotide binding regulatory protein-coupled receptors that mediate |the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. CHR|10 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=99913 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=153[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119654 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000684 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000684 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA38 DBL|UNIGENE:Hs.99913 |OMIM:109630 |SNP:153 MAP|10q24-q26 PHP|congestive heart failure, susceptibility to |Resting heart rate ENZ|beta1-adrenergic receptor activity ; GO:0004940 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == Mouse; gene == Adrb1; score == 627; expect == 4e-180; MEOW:MGgn0000193 (85%) |species == rat; score == 626; expect == 9e-180; MEOW:ref|NP_036833.1| (86%) |species == Human; gene == ADRB2; score == 387; expect == 5e-108; MEOW:HUgn0000154 (55%) |species == chimp; score == 384; expect == 4e-107; MEOW:sp|Q8HZG3|Q8HZG3 (54%) |species == Human; gene == ADRB3; score == 328; expect == 4.0e-90; MEOW:HUgn0000155 (56%) |species == Fruitfly; gene == DopR; score == 210; expect == 1.7e-54; MEOW:FBgn0011582 (35%) |species == Fruitfly; gene == CG6919; score == 205; expect == 4.2e-53; MEOW:FBgn0038980 (36%) |species == Mosquito; gene == LOC12916; score == 183; expect == 1.5e-46; MEOW:AGgn0012916 (36%) |species == Mosquito; gene == LOC1444; score == 174; expect == 4.4e-44; MEOW:AGgn0001444 (35%) |species == Mosquito; gene == LOC18662; score == 161; expect == 4.2e-40; MEOW:AGgn0018662 (38%) |species == Mosquito; gene == LOC1531; score == 152; expect == 5.4e-37; MEOW:AGgn0001531 (44%) |species == Worm; gene == M03F4.3; score == 150; expect == 1.8e-36; MEOW:CEgn0014057 (39%) |species == Worm; gene == F01E11.5a; score == 132; expect == 2.9e-31; MEOW:CEgn0033976 (37%) |species == Worm; gene == F01E11.5b; score == 132; expect == 2.9e-31; MEOW:CEgn0033977 (37%) } # EOR GENR { RETE|ID 1 HUgn0000154 CHR 1 5 DID 1 LocusLink:154 MAP 1 5q31-q32 NAM 1 adrenergic, beta-2-, receptor, surface ORG 1 Homo sapiens SYM 1 ADRB2 ID|HUgn0000154 DID|LocusLink:154 ORG|Homo sapiens RSQ|REFSEQ:NM_000024 RPA|REFPROT:NP_000015 DBA|XM:NM_000024 |NA:AF022953 |NA:AF022954 |NA:AF022955 |NA:AF022956 |NA:AF169225 |NA:AF202305 |NA:AF203386 |NA:J02960 |NA:Y00106 |NA:AY136741 |NA:BC012481 |NA:M15169 |NA:X04827 |NA:none PAC|XP:NP_000015 SYM|ADRB2 NAM|adrenergic, beta-2-, receptor, surface SYN|BAR |B2AR |ADRBR |ADRB2R FNC|adrenergic, beta-2-, receptor, surface |transmembrane receptor protein tyrosine kinase activation (dimerization) ; GO:0007171 |endosome to lysosome transport ; GO:0008333 |activation of MAPK ; GO:0000187 |receptor mediated endocytosis ; GO:0006898 |protein kinase cascade ; GO:0007243 |adenylate cyclase activation ; GO:0007190 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |G-protein coupled receptor protein signaling pathway ; GO:0007186 REAB|This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled |receptor superfamily. This receptor is directly associated with one of its ultimate |effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex |also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing |phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that |ensures specific and rapid signaling by this G protein-coupled receptor. This gene |contains no introns in either its coding or untranslated sequences. Different polymorphic |forms, point mutations, and/or downregulation of this gene are associated with nocturnal |asthma, obesity and type 2 diabetes. CHR|5 PRD|beta-2 adrenoceptor |catecholamine receptor |beta-2 adrenergic receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2551 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=154[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120541 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000024 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000024 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2551 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA39 DBL|UNIGENE:Hs.2551 |OMIM:109690 |SNP:154 |UWCM:120541.html MAP|5q31-q32 PHP|Asthma, nocturnal, susceptibility to |Obesity, susceptibility to ENZ|beta2-adrenergic receptor activity ; GO:0004941 |receptor activity ; GO:0004872 |rhodopsin-like receptor activity ; GO:0001584 CEL|endosome ; GO:0005768 |lysosome ; GO:0005764 |integral to plasma membrane ; GO:0005887 HG|species == chimp; score == 739; expect == 0.0; MEOW:sp|Q8HZG3|Q8HZG3 (98%) |species == rat; score == 734; expect == 0.0; MEOW:ref|NP_036624.1| (87%) |species == Mouse; gene == Adrb2; score == 732; expect == 0.0; MEOW:MGgn0000194 (86%) |species == Human; gene == ADRB1; score == 387; expect == 5e-108; MEOW:HUgn0000153 (55%) |species == Human; gene == ADRB3; score == 314; expect == 5.0e-86; MEOW:HUgn0000155 (50%) |species == Fruitfly; gene == CG6919; score == 228; expect == 2.1e-60; MEOW:FBgn0038980 (39%) |species == Mosquito; score == 209; expect == 1.7e-54; MEOW:AGgn0018804 (37%) |species == Fruitfly; gene == DopR; score == 196; expect == 1.5e-50; MEOW:FBgn0011582 (33%) |species == Mosquito; gene == LOC12908; score == 190; expect == 8.0e-49; MEOW:AGgn0012908 (35%) |species == Fruitfly; gene == 5-HT7; score == 188; expect == 2.4e-48; MEOW:FBgn0004573 (32%) |species == Mosquito; gene == LOC12916; score == 185; expect == 2.0e-47; MEOW:AGgn0012916 (31%) |species == Fruitfly; gene == CG6989; score == 184; expect == 3.5e-47; MEOW:FBgn0038063 (39%) |species == Worm; gene == dop-1; score == 177; expect == 6.6e-45; MEOW:CEgn0030879 (32%) |species == Mosquito; gene == LOC1444; score == 172; expect == 2.3e-43; MEOW:AGgn0001444 (35%) |species == Worm; gene == M03F4.3; score == 144; expect == 1.3e-34; MEOW:CEgn0014057 (34%) } # EOR GENR { RETE|ID 1 HUgn0000155 CHR 1 8 DID 1 LocusLink:155 MAP 1 8p12-p11.2 NAM 1 adrenergic, beta-3-, receptor ORG 1 Homo sapiens SYM 1 ADRB3 ID|HUgn0000155 DID|LocusLink:155 ORG|Homo sapiens RSQ|REFSEQ:NM_000025 RPA|REFPROT:NP_000016 DBA|XM:NM_000025 |NA:M29932 |NA:X70812 |NA:X72861 |NA:S53291 |NA:X70811 |NA:none PAC|XP:NP_000016 SYM|ADRB3 NAM|adrenergic, beta-3-, receptor FNC|adrenergic, beta-3-, receptor |energy reserve metabolism ; GO:0006112 |G-protein signaling, coupled to cAMP nucleotide second messenger ; GO:0007188 |energy pathways ; GO:0006091 |carbohydrate metabolism ; GO:0005975 REAB|The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose |tissue and is involved in the regulation of lipolysis and thermogenesis. Beta adrenergic |receptors are involved in the epenephrine and norepinephrine-induced activation |of adenylate cyclase through the action of G proteins. CHR|8 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2549 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=155[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:203869 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000025 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000025 DBL|UNIGENE:Hs.2549 |OMIM:109691 |SNP:155 MAP|8p12-p11.2 ENZ|beta3-adrenergic receptor activity ; GO:0015052 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 542; expect == 1e-154; MEOW:ref|NP_037240.1| (79%) |species == Mouse; gene == Adrb3; score == 510; expect == 6e-145; MEOW:MGgn0000195 (80%) |species == chimp; score == 411; expect == 9e-117; MEOW:sp|Q8HZF9|Q8HZF9 (98%) |species == Human; gene == ADRB1; score == 328; expect == 4.0e-90; MEOW:HUgn0000153 (56%) |species == Human; gene == ADRB2; score == 314; expect == 5.0e-86; MEOW:HUgn0000154 (50%) |species == Fruitfly; gene == DopR; score == 198; expect == 8.9e-51; MEOW:FBgn0011582 (34%) |species == Fruitfly; gene == CG6919; score == 194; expect == 1.3e-49; MEOW:FBgn0038980 (36%) |species == Mosquito; gene == LOC1444; score == 169; expect == 1.4e-42; MEOW:AGgn0001444 (35%) |species == Worm; gene == dop-1; score == 159; expect == 3.4e-39; MEOW:CEgn0030879 (33%) |species == Worm; gene == M03F4.3; score == 152; expect == 3.7e-37; MEOW:CEgn0014057 (39%) |species == Mosquito; gene == LOC4047; score == 140; expect == 8.1e-34; MEOW:AGgn0004047 (36%) } # EOR GENR { RETE|ID 1 HUgn0000156 CHR 1 11 DID 1 LocusLink:156 MAP 1 11q13 NAM 1 adrenergic, beta, receptor kinase 1 ORG 1 Homo sapiens SYM 1 ADRBK1 ID|HUgn0000156 DID|LocusLink:156 ORG|Homo sapiens RSQ|REFSEQ:NM_001619 RPA|REFPROT:NP_001610 DBA|XM:NM_001619 |NA:U08435 |NA:U08436 |NA:U08437 |NA:U08438 |NA:BC037963 |NA:M80776 |NA:X61157 |NA:none PAC|XP:NP_001610 SYM|ADRBK1 NAM|adrenergic, beta, receptor kinase 1 SYN|GRK2 |BARK1 |BETA-ARK1 FNC|beta adrenergic receptor kinase 1 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|Beta-adrenergic receptor kinase (ADRBK1) phosphorylates the beta-2-adrenergic receptor |and appears to mediate agonist-specific desensitization observed at high agonist |concentrations. ADRBK1 is an ubiquitous cytosolic enzyme that specifically phosphorylates |the activated form of the beta-adrenergic and related G-protein-coupled receptors. |The ADRBK1 gene spans approximately 23 kb and is composed of 21 exons. Heart failure |is accompanied by severely impaired beta-adrenergic receptor (beta-AR) function. |An important mechanism for the rapid desensitization of beta-AR function is agonist-stimulated |receptor phosphorylation by the beta-AR kinase (beta-ARK1), an enzyme known to be |elevated in failing human heart tissue. Abnormal coupling of beta-adrenergic receptor |to G protein is involved in the pathogenesis of the failing heart. Inhibition of |ADRBK1 is a novel mode of therapy. CHR|11 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83636 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=156[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128604 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001619 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001619 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=83636 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA40 DBL|UNIGENE:Hs.83636 |OMIM:109635 |SNP:156 ENZ|EC:2.7.1.126 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |G-protein coupled receptor kinase activity ; GO:0004703 |transferase activity ; GO:0016740 |beta-adrenergic-receptor kinase activity ; GO:0047696 MAP|11q13 CEL|soluble fraction ; GO:0005625 |cytoplasm ; GO:0005737 HG|species == Mouse; gene == Adrbk1; score == 1370; expect == 0.0; MEOW:MGgn0000196 (97%) |species == rat; score == 1309; expect == 0.0; MEOW:ref|XP_346577.1| (98%) |species == Human; gene == ADRBK2; score == 1209; expect == 0.0; MEOW:HUgn0000157 (83%) |species == Fruitfly; gene == Gprk1; score == 907; expect == 0.0; MEOW:FBgn0004833 (66%) |species == Worm; gene == W02B3.2; score == 904; expect == 0.0; MEOW:CEgn0017350 (65%) |species == Mosquito; gene == LOC8658; score == 706; expect == 0.0; MEOW:AGgn0008658 (71%) |species == Yeast; gene == YPK1; score == 227; expect == 5.4e-60; MEOW:SGgn0001609 (40%) |species == Yeast; gene == YPK2; score == 222; expect == 1.7e-58; MEOW:SGgn0004710 (39%) |species == rice; score == 213; expect == 4.9e-55; MEOW:gnl|TIGR|8360.m02002 (38%) |species == Weed; gene == At3g08720; score == 212; expect == 6.5e-55; MEOW:ATgn0012546 (38%) |species == Yeast; gene == SCH9; score == 211; expect == 2.4e-55; MEOW:SGgn0001248 (35%) |species == chimp; score == 211; expect == 1.9e-56; MEOW:sp|BAC81132|BAC81132 (35%) |species == Weed; gene == At3g08730; score == 209; expect == 3.2e-54; MEOW:ATgn0012560 (38%) |species == rice; score == 202; expect == 1.1e-51; MEOW:gnl|TIGR|8355.m04622 (36%) |species == Yeast; gene == TPK3; score == 191; expect == 3.3e-49; MEOW:SGgn0001649 (34%) |species == Yeast; gene == TPK1; score == 191; expect == 3.3e-49; MEOW:SGgn0003700 (34%) |species == Zfish; gene == prkci; score == 183; expect == 2.1e-47; MEOW:ZFgn0002337 (32%) } # EOR GENR { RETE|ID 1 HUgn0000157 CHR 1 22 DID 1 LocusLink:157 MAP 1 22q11 NAM 1 adrenergic, beta, receptor kinase 2 ORG 1 Homo sapiens SYM 1 ADRBK2 ID|HUgn0000157 DID|LocusLink:157 ORG|Homo sapiens RSQ|REFSEQ:NM_005160 RPA|REFPROT:NP_005151 DBA|XM:NM_005160 |NA:AL022329 |NA:AK055687 |NA:AK058103 |NA:AK123767 |NA:AK124922 |NA:BC004918 |NA:BC014216 |NA:BC021221 |NA:BC029563 |NA:BC036797 |NA:BC037884 |NA:BC047380 |NA:X69117 |NA:none PAC|XP:NP_005151 SYM|ADRBK2 NAM|adrenergic, beta, receptor kinase 2 SYN|GRK3 |BARK2 FNC|beta adrenergic receptor kinase 2 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied |form of the beta-adrenergic and related G protein-coupled receptors. Overall, the |ADRBK2 enzyme has 85% amino acid similarity with ADRBK1, with the protein kinase |catalytic domain having 95% similarity. The ADRBK2 mRNA is approximately 8 kilobases |with a distribution similar to that of ADRBK1. These data suggest the existence |of a family of receptor kinases which may serve broadly to regulate receptor function CHR|22 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=445563 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=157[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:131716 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005160 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005160 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=445563 DBL|UNIGENE:Hs.445563 |OMIM:109636 |SNP:157 ENZ|EC:2.7.1.126 |ATP binding ; GO:0005524 |signal transducer activity ; GO:0004871 |G-protein coupled receptor kinase activity ; GO:0004703 |transferase activity ; GO:0016740 |beta-adrenergic-receptor kinase activity ; GO:0047696 MAP|22q11 HG|species == Human; gene == ADRBK1; score == 1209; expect == 0.0; MEOW:HUgn0000156 (83%) |species == Mouse; gene == Adrbk1; score == 1199; expect == 0.0; MEOW:MGgn0000196 (83%) |species == rat; score == 1137; expect == 0.0; MEOW:ref|XP_346577.1| (83%) |species == Mouse; gene == 4833444A01Rik; score == 1087; expect == 0.0; MEOW:MGgn0040793 (92%) |species == rat; score == 918; expect == 0.0; MEOW:ref|XP_346862.1| (92%) |species == Fruitfly; gene == Gprk1; score == 909; expect == 0.0; MEOW:FBgn0004833 (66%) |species == Worm; gene == W02B3.2; score == 904; expect == 0.0; MEOW:CEgn0017350 (66%) |species == Mosquito; gene == LOC8658; score == 703; expect == 0.0; MEOW:AGgn0008658 (70%) |species == Yeast; gene == YPK1; score == 218; expect == 2.5e-57; MEOW:SGgn0001609 (39%) |species == rice; score == 218; expect == 2.6e-56; MEOW:gnl|TIGR|8360.m02002 (38%) |species == Yeast; gene == YPK2; score == 216; expect == 7.3e-57; MEOW:SGgn0004710 (39%) |species == chimp; score == 216; expect == 4.7e-58; MEOW:sp|BAC81132|BAC81132 (35%) |species == Yeast; gene == SCH9; score == 209; expect == 1.2e-54; MEOW:SGgn0001248 (37%) |species == rice; score == 209; expect == 9.3e-54; MEOW:gnl|TIGR|8355.m04622 (37%) |species == Weed; gene == At3g08720; score == 208; expect == 9.4e-54; MEOW:ATgn0012546 (37%) |species == Weed; gene == At3g08730; score == 208; expect == 7.2e-54; MEOW:ATgn0012560 (37%) |species == Yeast; gene == TPK3; score == 189; expect == 1.3e-48; MEOW:SGgn0001649 (35%) |species == Yeast; gene == TPK1; score == 188; expect == 3.6e-48; MEOW:SGgn0003700 (34%) |species == Zfish; gene == prkci; score == 179; expect == 3.1e-46; MEOW:ZFgn0002337 (31%) |species == Yeast; gene == TPK2; score == 175; expect == 1.9e-44; MEOW:SGgn0006124 (33%) |species == Weed; gene == At1g45160; score == 169; expect == 3.7e-42; MEOW:ATgn0005042 (33%) |species == Weed; gene == At1g48490; score == 167; expect == 2.4e-41; MEOW:ATgn0006891 (32%) } # EOR GENR { RETE|ID 1 HUgn0000158 CHR 1 22 DID 1 LocusLink:158 MAP 1 22q13.1 NAM 1 adenylosuccinate lyase ORG 1 Homo sapiens SYM 1 ADSL ID|HUgn0000158 DID|LocusLink:158 ORG|Homo sapiens RSQ|REFSEQ:NM_000026 RPA|REFPROT:NP_000017 DBA|XM:NM_000026 |NA:AF067853 |NA:AF067854 |NA:BC000253 |NA:BC018881 |NA:S60710 |NA:X65867 |NA:none PAC|XP:NP_000017 SYM|ADSL NAM|adenylosuccinate lyase FNC|adenylosuccinate lyase |purine ribonucleotide biosynthesis ; GO:0009152 REAB|Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation |of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions |in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide |(SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal |of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results |in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth |retardation associated with muscle wasting and epilepsy. CHR|22 PRD|adenylosuccinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75527 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=158[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119655 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000026 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000026 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=75527 |http://www.geneclinics.org/query?mim=103050 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.75527 |OMIM:608222 |SNP:158 |UWCM:119655.html ENZ|EC:4.3.2.2 |adenylosuccinate lyase activity ; GO:0004018 |lyase activity ; GO:0016829 MAP|22q13.1 PHP|Adenylosuccinase deficiency HG|species == Mouse; gene == Adsl; score == 911; expect == 0.0; MEOW:MGgn0000203 (94%) |species == rat; score == 878; expect == 0.0; MEOW:ref|XP_235496.2| (90%) |species == Fruitfly; gene == CG3590; score == 629; expect == 1e-180; MEOW:FBgn0038467 (67%) |species == Mosquito; score == 614; expect == 2e-176; MEOW:AGgn0014908 (67%) |species == Yeast; gene == ADE13; score == 596; expect == 1e-170; MEOW:SGgn0004351 (64%) |species == Worm; gene == R06C7.5a; score == 404; expect == 4e-113; MEOW:CEgn0032359 (46%) |species == Worm; gene == R06C7.5b; score == 355; expect == 2.9e-98; MEOW:CEgn0032360 (53%) } # EOR GENR { RETE|ID 1 HUgn0000159 CHR 1 1 DID 1 LocusLink:159 MAP 1 1cen-q12 NAM 1 adenylosuccinate synthase ORG 1 Homo sapiens SYM 1 ADSS ID|HUgn0000159 DID|LocusLink:159 ORG|Homo sapiens RSQ|REFSEQ:NM_001126 RPA|REFPROT:NP_001117 DBA|XM:NM_001126 |NA:X66503 |NA:AK025514 |NA:BC012356 |NA:BG700800 |NA:none PAC|XP:NP_001117 SYM|ADSS NAM|adenylosuccinate synthase SYN|ADEH |MGC20404 FNC|adenylosuccinate synthase |AMP biosynthesis ; GO:0006167 |purine nucleotide biosynthesis ; GO:0006164 REAB|Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP CHR|1 PRD|Adenylosuccinate synthetase (Ade(-)H-complementing) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=90011 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=159[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119656 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001126 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001126 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=90011 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 DBL|UNIGENE:Hs.90011 |OMIM:103060 |SNP:159 ENZ|EC:6.3.4.4 |adenylosuccinate synthase activity ; GO:0004019 |GTP binding ; GO:0005525 |magnesium ion binding ; GO:0000287 |ligase activity ; GO:0016874 MAP|1cen-q12 HG|species == rat; score == 896; expect == 0.0; MEOW:ref|XP_222946.2| (96%) |species == Mouse; gene == Adss2; score == 894; expect == 0.0; MEOW:MGgn0000205 (96%) |species == Human; gene == ADSSL1; score == 721; expect == 0.0; MEOW:HUgn0122622 (77%) |species == Mouse; gene == Adss; score == 719; expect == 0.0; MEOW:MGgn0000204 (76%) |species == Zfish; gene == adss; score == 698; expect == 0.0; MEOW:ZFgn0002570 (76%) |species == Fruitfly; gene == CG17273; score == 553; expect == 3e-158; MEOW:FBgn0027493 (62%) |species == Mosquito; gene == LOC753; score == 551; expect == 2e-157; MEOW:AGgn0000753 (63%) |species == Yeast; gene == ADE12; score == 498; expect == 1e-141; MEOW:SGgn0005164 (57%) |species == Worm; gene == C37H5.6a; score == 460; expect == 6e-130; MEOW:CEgn0031778 (51%) |species == Worm; gene == C37H5.6b; score == 458; expect == 3e-129; MEOW:CEgn0031779 (54%) |species == Weed; gene == At3g57610; score == 414; expect == 5e-116; MEOW:ATgn0011482 (49%) |species == rice; score == 414; expect == 9e-116; MEOW:gnl|TIGR|8360.m04401 (47%) |species == rice; score == 413; expect == 2e-115; MEOW:gnl|TIGR|8360.m00679 (46%) |species == ecoli; score == 319; expect == 2.1e-88; MEOW:ref|NP_418598.1| (42%) } # EOR GENR { RETE|ID 1 HUgn0000160 CHR 1 19 DID 1 LocusLink:160 MAP 1 19q13.33 NAM 1 adaptor-related protein complex 2, alpha 1 subunit ORG 1 Homo sapiens SYM 1 AP2A1 ID|HUgn0000160 DID|LocusLink:160 ORG|Homo sapiens RSQ|REFSEQ:NM_014203 |REFSEQ:NM_130787 RPA|REFPROT:NP_055018 |REFPROT:NP_570603 DBA|XM:NM_014203 |XM:NM_130787 |NA:AC006942 |NA:AF289221 |NA:AK094317 |NA:AL136925 |NA:BC014214 |NA:none PAC|XP:NP_055018 |XP:NP_570603 SYM|AP2A1 NAM|adaptor-related protein complex 2, alpha 1 subunit SYN|ADTAA |CLAPA1 |AP2-ALPHA FNC|adaptor-related protein complex 2, alpha 1 subunit isoform 1 |adaptor-related protein complex 2, alpha 1 subunit isoform 2 |endocytosis ; GO:0006897 |intracellular protein transport ; GO:0006886 |Golgi to endosome transport ; GO:0006895 REAB|This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex |found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting |of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin |(sigma). The complex is part of the protein coat on the cytoplasmic face of coated |vesicles which links clathrin to receptors in vesicles. Alternative splicing of |this gene results in two transcript variants encoding two different isoforms. A |third transcript variant has been described, but its full length nature has not |been determined. CHR|19 PRD|adaptin, alpha A |100 kDa coated vesicle protein A |clathrin-associated/assembly/adaptor protein, large, alpha 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=296426 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=160[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433859 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_014203 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_014203 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=296426 DBL|UNIGENE:Hs.296426 |OMIM:601026 |SNP:160 MAP|19q13.33 ENZ|protein transporter activity ; GO:0008565 |structural molecule activity ; GO:0005198 CEL|coated pit ; GO:0005905 |Golgi apparatus ; GO:0005794 |AP-2 adaptor complex ; GO:0030122 |clathrin coat of trans-Golgi network vesicle ; GO:0030130 HG|species == Mouse; gene == Ap2a1; score == 1703; expect == 0.0; MEOW:MGgn0000421 (98%) |species == rat; score == 1634; expect == 0.0; MEOW:ref|XP_218624.2| (97%) |species == rat; score == 1477; expect == 0.0; MEOW:ref|NP_112270.1| (79%) |species == Mouse; gene == Ap2a2; score == 1473; expect == 0.0; MEOW:MGgn0000422 (79%) |species == Human; gene == AP2A2; score == 1140; expect == 0.0; MEOW:HUgn0000161 (89%) |species == Mosquito; score == 999; expect == 0.0; MEOW:AGgn0019991 (75%) |species == Fruitfly; gene == &agr;-Adaptin; score == 987; expect == 0.0; MEOW:FBgn0015567 (78%) |species == Weed; gene == At5g22770; score == 615; expect == 4e-176; MEOW:ATgn0020973 (36%) |species == Weed; gene == At5g22780; score == 614; expect == 1e-175; MEOW:ATgn0020974 (36%) |species == rice; score == 610; expect == 2e-174; MEOW:gnl|TIGR|8360.m00113 (36%) |species == Yeast; gene == APL3; score == 249; expect == 2.0e-66; MEOW:SGgn0000133 (28%) } # EOR GENR { RETE|ID 1 HUgn0000161 CHR 1 11 DID 1 LocusLink:161 MAP 1 11p15.5 NAM 1 adaptor-related protein complex 2, alpha 2 subunit ORG 1 Homo sapiens SYM 1 AP2A2 ID|HUgn0000161 DID|LocusLink:161 ORG|Homo sapiens RSQ|REFSEQ:NM_012305 RPA|REFPROT:NP_036437 DBA|XM:NM_012305 |NA:AB020706 |NA:AF049527 |NA:AK001986 |NA:AK027640 |NA:AK027891 |NA:AL117614 |NA:BC006155 |NA:none PAC|XP:NP_036437 SYM|AP2A2 NAM|adaptor-related protein complex 2, alpha 2 subunit SYN|HIP9 |HYPJ |ADTAB |CLAPA2 |KIAA0899 |DKFZP564D1864 FNC|adaptor-related protein complex 2, alpha 2 subunit |intracellular protein transport ; GO:0006886 CHR|11 PRD|adaptin, alpha B |alpha-adaptin C; Huntingtin interacting protein J |clathrin-associated/assembly/adaptor protein, large, alpha 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19121 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=161[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433860 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_012305 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_012305 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19121 |http://zearth.kazusa.or.jp/huge/gfpage/KIAA0899 DBL|UNIGENE:Hs.19121 |OMIM:607242 |SNP:161 MAP|11p15.5 ENZ|structural molecule activity ; GO:0005198 |molecular_function unknown ; GO:0005554 CEL|coated pit ; GO:0005905 |AP-2 adaptor complex ; GO:0030122 HG|species == rat; score == 1723; expect == 0.0; MEOW:ref|NP_112270.1| (96%) |species == Mouse; gene == Ap2a2; score == 1719; expect == 0.0; MEOW:MGgn0000422 (96%) |species == Mouse; gene == Ap2a1; score == 1461; expect == 0.0; MEOW:MGgn0000421 (79%) |species == rat; score == 1398; expect == 0.0; MEOW:ref|XP_218624.2| (78%) |species == Fruitfly; gene == &agr;-Adaptin; score == 1278; expect == 0.0; MEOW:FBgn0015567 (69%) |species == Mosquito; score == 1269; expect == 0.0; MEOW:AGgn0019991 (71%) |species == Human; gene == AP2A1; score == 1140; expect == 0.0; MEOW:HUgn0000160 (89%) |species == Weed; gene == At5g22770; score == 615; expect == 4e-176; MEOW:ATgn0020973 (37%) |species == Weed; gene == At5g22780; score == 613; expect == 1e-175; MEOW:ATgn0020974 (37%) |species == rice; score == 507; expect == 1e-143; MEOW:gnl|TIGR|8360.m00113 (44%) |species == Yeast; gene == APL3; score == 265; expect == 1.9e-71; MEOW:SGgn0000133 (25%) } # EOR GENR { RETE|ID 1 HUgn0000162 CHR 1 22 DID 1 LocusLink:162 MAP 1 22q12 NAM 1 adaptor-related protein complex 1, beta 1 subunit ORG 1 Homo sapiens SYM 1 AP1B1 ID|HUgn0000162 DID|LocusLink:162 ORG|Homo sapiens RSQ|REFSEQ:NM_001127 |REFSEQ:NM_145730 RPA|REFPROT:NP_001118 |REFPROT:NP_663782 DBA|XM:NM_001127 |XM:NM_145730 |NA:U36267 |NA:U36268 |NA:AI084003 |NA:BC046242 |NA:BM909530 |NA:L13939 |NA:none PAC|XP:NP_001118 |XP:NP_663782 SYM|AP1B1 NAM|adaptor-related protein complex 1, beta 1 subunit SYN|ADTB1 |BAM22 |AP105A |CLAPB2 FNC|adaptor-related protein complex 1 beta 1 subunit isoform a |adaptor-related protein complex 1 beta 1 subunit isoform b REAB|Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located |at the Golgi complex, where it mediates both the recruitment of clathrin to the |membrane and the recognition of sorting signals within the cytosolic tails of transmembrane |receptors. This complex is a heterotetramer composed of two large, one medium, and |one small adaptin subunit. The protein encoded by this gene serves as one of the |large subunits of this complex and is a member of the adaptin protein family. This |gene is a candidate meningioma gene. Two transcript variants encoding different |isoforms have been found for this gene, and variants utilizing alternative polyadenylation |signals exist. CHR|22 PRD|beta-adaptin 1 |beta-prime-adaptin |Golgi adaptor HA1/AP1 adaptin beta subunit |adaptor protein complex AP-1 beta 1 subunit |clathrin assembly protein complex 1 beta large chain |plasma membrane adaptor HA2/AP2 adaptor beta subunit URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=331602 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=162[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386097 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001127 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001127 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=331602 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24844 DBL|UNIGENE:Hs.331602 |OMIM:600157 |SNP:162 MAP|22q12 HG|species == rat; score == 1657; expect == 0.0; MEOW:ref|NP_058973.1| (95%) |species == Mouse; gene == Ap1b1; score == 1654; expect == 0.0; MEOW:MGgn0000414 (95%) |species == rat; score == 1472; expect == 0.0; MEOW:ref|NP_542150.1| (83%) |species == Human; gene == AP2B1; score == 1471; expect == 0.0; MEOW:HUgn0000163 (82%) |species == Mouse; gene == Ap2b1; score == 1469; expect == 0.0; MEOW:MGgn0016676 (82%) |species == rat; score == 1419; expect == 0.0; MEOW:ref|XP_214419.2| (81%) |species == rat; score == 1385; expect == 0.0; MEOW:ref|XP_214481.2| (78%) |species == Fruitfly; gene == Bap; score == 1281; expect == 0.0; MEOW:FBgn0010380 (72%) |species == Mosquito; gene == LOC13886; score == 1258; expect == 0.0; MEOW:AGgn0013886 (71%) |species == Human; gene == LOC347530; score == 1198; expect == 0.0; MEOW:HUgn0347530 (70%) |species == Worm; gene == apt-3; score == 1140; expect == 0.0; MEOW:CEgn0030524 (64%) |species == Weed; gene == At4g23460; score == 981; expect == 0.0; MEOW:ATgn0017959 (58%) |species == Weed; gene == At4g11380; score == 878; expect == 0.0; MEOW:ATgn0018337 (70%) |species == rice; score == 808; expect == 0.0; MEOW:gnl|TIGR|8360.m02169 (74%) |species == Yeast; gene == APL2; score == 442; expect == 3e-124; MEOW:SGgn0001618 (40%) } # EOR GENR { RETE|ID 1 HUgn0000163 CHR 1 17 DID 1 LocusLink:163 MAP 1 17q11.2-q12 NAM 1 adaptor-related protein complex 2, beta 1 subunit ORG 1 Homo sapiens SYM 1 AP2B1 ID|HUgn0000163 DID|LocusLink:163 ORG|Homo sapiens RSQ|REFSEQ:NM_001282 RPA|REFPROT:NP_001273 DBA|XM:NM_001282 |NA:AY341427 |NA:BC006201 |NA:BC012150 |NA:M34175 |NA:none PAC|XP:NP_001273 SYM|AP2B1 NAM|adaptor-related protein complex 2, beta 1 subunit SYN|ADTB2 |CLAPB1 |AP2-BETA FNC|adaptor-related protein complex 2, beta 1 subunit REAB|The beta adaptin subunit is part of the clathrin coat assembly complex which links |clathrin to receptors in coated pits and vesicles. These vesicles are involved in |endocytosis and Golgi processing. The beta 1 subunit is one of the assembly proteins |which binds to clathrin and initiates coat formation. CHR|17 PRD|adaptin, beta 2 (beta) |clathrin-associated/assembly/adaptor protein, large, beta 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=370123 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=163[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433858 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001282 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001282 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=370123 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24854 DBL|UNIGENE:Hs.370123 |OMIM:601025 |SNP:163 MAP|17q11.2-q12 HG|species == Mouse; gene == Ap2b1; score == 1729; expect == 0.0; MEOW:MGgn0016676 (99%) |species == rat; score == 1727; expect == 0.0; MEOW:ref|NP_542150.1| (98%) |species == rat; score == 1679; expect == 0.0; MEOW:ref|XP_214419.2| (97%) |species == rat; score == 1624; expect == 0.0; MEOW:ref|XP_214481.2| (92%) |species == Human; gene == AP1B1; score == 1471; expect == 0.0; MEOW:HUgn0000162 (82%) |species == Mouse; gene == Ap1b1; score == 1464; expect == 0.0; MEOW:MGgn0000414 (83%) |species == rat; score == 1446; expect == 0.0; MEOW:ref|NP_058973.1| (82%) |species == Human; gene == LOC347530; score == 1436; expect == 0.0; MEOW:HUgn0347530 (85%) |species == Mosquito; gene == LOC13886; score == 1253; expect == 0.0; MEOW:AGgn0013886 (69%) |species == Fruitfly; gene == Bap; score == 1253; expect == 0.0; MEOW:FBgn0010380 (72%) |species == Worm; gene == apt-3; score == 1122; expect == 0.0; MEOW:CEgn0030524 (62%) |species == Weed; gene == At4g11380; score == 952; expect == 0.0; MEOW:ATgn0018337 (57%) |species == Weed; gene == At4g23460; score == 940; expect == 0.0; MEOW:ATgn0017959 (56%) |species == rice; score == 913; expect == 0.0; MEOW:gnl|TIGR|8360.m02169 (55%) |species == Yeast; gene == APL2; score == 444; expect == 8e-125; MEOW:SGgn0001618 (40%) } # EOR GENR { RETE|ID 1 HUgn0000164 CHR 1 16 DID 1 LocusLink:164 MAP 1 16q23 NAM 1 adaptor-related protein complex 1, gamma 1 subunit ORG 1 Homo sapiens SYM 1 AP1G1 ID|HUgn0000164 DID|LocusLink:164 ORG|Homo sapiens RSQ|REFSEQ:NM_001128 RPA|REFPROT:NP_001119 DBA|XM:NM_001128 |NA:AJ224112 |NA:AJ224113 |NA:AJ224114 |NA:AB015317 |NA:AK025020 |NA:AK128078 |NA:AL110198 |NA:BC003414 |NA:BC036283 |NA:BC051747 |NA:BU902252 |NA:Y12226 |NA:none |NA:AK055122 PAC|XP:NP_001119 SYM|AP1G1 NAM|adaptor-related protein complex 1, gamma 1 subunit SYN|ADTG |CLAPG1 |MGC18255 FNC|adaptor-related protein complex 1, gamma 1 subunit |endocytosis ; GO:0006897 |intracellular protein transport ; GO:0006886 REAB|Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor |complexes from the plasma membrane or from the trans-Golgi network to lysosomes. |The adaptin family of proteins is composed of four classes of molecules named alpha, |beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small |subunits, form a heterotetrameric complex called an adaptor, whose role is to promote |the formation of clathrin-coated pits and vesicles. The protein encoded by this |gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits |family. CHR|16 PRD|gamma adaptin |golgi adaptor HA1/AP1 adaptin gamma subunit |clathrin assembly protein complex 1 gamma large chain |clathrin-associated/assembly/adaptor protein, large, gamma 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=5344 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=164[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:433861 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001128 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001128 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=5344 DBL|UNIGENE:Hs.5344 |OMIM:603533 |SNP:164 MAP|16q23 ENZ|protein transporter activity ; GO:0008565 CEL|clathrin adaptor ; GO:0005906 |coated pit ; GO:0005905 |Golgi apparatus ; GO:0005794 HG|species == Mouse; gene == Ap1g1; score == 1478; expect == 0.0; MEOW:MGgn0000415 (98%) |species == Human; gene == AP1G2; score == 882; expect == 0.0; MEOW:HUgn0008906 (58%) |species == rat; score == 878; expect == 0.0; MEOW:ref|XP_214197.2| (58%) |species == Fruitfly; gene == AP-1&ggr;; score == 751; expect == 0.0; MEOW:FBgn0030089 (60%) |species == Mosquito; gene == LOC11401; score == 740; expect == 0.0; MEOW:AGgn0011401 (65%) |species == Weed; gene == At1g60070; score == 680; expect == 0.0; MEOW:ATgn0004659 (45%) |species == Weed; gene == At1g23900; score == 647; expect == 0.0; MEOW:ATgn0006688 (45%) |species == Mosquito; gene == LOC14891; score == 644; expect == 0.0; MEOW:AGgn0014891 (55%) |species == rice; score == 639; expect == 0.0; MEOW:gnl|TIGR|8354.m00608 (43%) |species == rice; score == 585; expect == 6e-167; MEOW:gnl|TIGR|8351.m05386 (41%) |species == Yeast; gene == APL4; score == 314; expect == 3.2e-86; MEOW:SGgn0006233 (34%) } # EOR GENR { RETE|ID 1 HUgn0000165 CHR 1 7 DID 1 LocusLink:165 MAP 1 7p13 NAM 1 AE binding protein 1 ORG 1 Homo sapiens SYM 1 AEBP1 ID|HUgn0000165 DID|LocusLink:165 ORG|Homo sapiens RSQ|REFSEQ:NM_001129 RPA|REFPROT:NP_001120 DBA|XM:NM_001129 |XM:NM_001129 |NA:AF053944 |NA:AK127541 |NA:BC038588 |NA:D86479 PAC|XP:NP_001120 |XP:NP_001120 SYM|AEBP1 NAM|AE binding protein 1 SYN|ACLP FNC|adipocyte enhancer binding protein 1 precursor |muscle development ; GO:0007517 |proteolysis and peptidolysis ; GO:0006508 |regulation of transcription, DNA-dependent ; GO:0006355 |skeletal development ; GO:0001501 |cell adhesion ; GO:0007155 REAB|The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase |(CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 |(AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which |encodes the adipocyte fatty-acid binding protein. It is characterized as a member |of the regulatory B-like CP family. This protein seems to be activated by a novel |mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer |binding protein 1 may play a role in differentiated vascular smooth muscle cells. CHR|7 PRD|AE-binding protein 1 |aortic carboxypeptidase-like protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439463 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=165[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9835157 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001129 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001129 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=439463 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24604 DBL|UNIGENE:Hs.439463 |OMIM:602981 |SNP:165 MAP|7p13 ENZ|carboxypeptidase A activity ; GO:0004182 |carboxypeptidase activity ; GO:0004180 |transcription factor activity ; GO:0003700 CEL|cytoplasm ; GO:0005737 |nucleus ; GO:0005634 HG|species == Mouse; gene == Aebp1; score == 1468; expect == 0.0; MEOW:MGgn0000207 (82%) |species == rat; score == 1351; expect == 0.0; MEOW:ref|XP_223583.2| (85%) |species == Mouse; gene == Cpxm2; score == 756; expect == 0.0; MEOW:MGgn0022932 (59%) |species == Mouse; gene == Cpxm1; score == 654; expect == 0.0; MEOW:MGgn0040099 (52%) |species == Human; gene == CPXM; score == 650; expect == 0.0; MEOW:HUgn0056265 (52%) |species == Human; gene == LOC119587; score == 533; expect == 2e-151; MEOW:HUgn0119587 (58%) |species == Mosquito; gene == LOC17539; score == 250; expect == 1.1e-66; MEOW:AGgn0017539 (33%) |species == Fruitfly; gene == svr; score == 245; expect == 5.5e-65; MEOW:FBgn0004648 (35%) |species == Mosquito; gene == LOC1195; score == 236; expect == 3.2e-62; MEOW:AGgn0001195 (35%) |species == Worm; gene == F59A3.1; score == 221; expect == 1.3e-57; MEOW:CEgn0012457 (33%) |species == Worm; gene == T27A8.1; score == 214; expect == 6.9e-56; MEOW:CEgn0017058 (33%) |species == Weed; gene == At1g71696; score == 159; expect == 2.3e-39; MEOW:ATgn0027198 (28%) } # EOR GENR { RETE|ID 1 HUgn0000166 CHR 1 19 DID 1 LocusLink:166 MAP 1 19p13.3 NAM 1 amino-terminal enhancer of split ORG 1 Homo sapiens SYM 1 AES ID|HUgn0000166 DID|LocusLink:166 ORG|Homo sapiens RSQ|REFSEQ:NM_001130 RPA|REFPROT:NP_001121 DBA|XM:NM_001130 |NA:AC005944 |NA:U88832 |NA:AF072902 |NA:AF269289 |NA:AK094591 |NA:AK095154 |NA:U04241 |NA:X73358 |NA:none PAC|XP:NP_001121 SYM|AES NAM|amino-terminal enhancer of split FNC|amino-terminal enhancer of split REAB|Amino-terminal enhancer of split is similar to the Drosophila enhancer of split groucho |protein. The function of AES has not been determined but it has been proposed as |a candidate tumor human cancer antigen. CHR|19 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446610 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=166[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:249182 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001130 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001130 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24606 DBL|UNIGENE:Hs.446610 |OMIM:600188 |SNP:166 MAP|19p13.3 HG|species == Zfish; gene == chico; score == 254; expect == 1.2e-69; MEOW:ZFgn0000723 (79%) |species == Human; gene == TLE2; score == 202; expect == 5.6e-52; MEOW:HUgn0007089 (71%) |species == Mouse; gene == Tle1; score == 195; expect == 1.0e-50; MEOW:MGgn0012360 (62%) |species == Human; gene == TLE1; score == 193; expect == 4.4e-50; MEOW:HUgn0007088 (64%) |species == Human; gene == TLE3; score == 188; expect == 1.8e-48; MEOW:HUgn0007090 (55%) |species == rat; score == 188; expect == 1.9e-48; MEOW:ref|NP_445852.1| (55%) |species == Human; gene == LOC286449; score == 185; expect == 1.5e-47; MEOW:HUgn0286449 (60%) |species == Mouse; gene == Tle3; score == 180; expect == 2.6e-46; MEOW:MGgn0012362 (56%) |species == Mosquito; gene == LOC1579; score == 173; expect == 3.5e-43; MEOW:AGgn0001579 (61%) |species == Mouse; gene == Tle2; score == 173; expect == 3.1e-44; MEOW:MGgn0012361 (61%) |species == Fruitfly; gene == gro; score == 165; expect == 7.3e-41; MEOW:FBgn0001139 (69%) |species == rat; score == 159; expect == 1.2e-39; MEOW:ref|NP_062014.1| (76%) } # EOR GENR { RETE|ID 1 HUgn0000167 CHR 1 6 DID 1 LocusLink:167 MAP 1 6p21.3 NAM 1 cysteine-rich secretory protein 1 ORG 1 Homo sapiens SYM 1 CRISP1 ID|HUgn0000167 DID|LocusLink:167 ORG|Homo sapiens RSQ|REFSEQ:NM_001131 |REFSEQ:NM_170609 RPA|REFPROT:NP_001122 |REFPROT:NP_733758 DBA|XM:NM_001131 |XM:NM_170609 |NA:AL359458 |NA:BC028577 |NA:D38451 |NA:S80310 |NA:X95237 |NA:X95238 |NA:none PAC|XP:NP_001122 |XP:NP_733758 SYM|CRISP1 NAM|cysteine-rich secretory protein 1 SYN|ARP |AEGL1 |HUMARP |CRISP-1 |HSCRISP1D |HSCRISP1G FNC|acidic epididymal glycoprotein-like 1 isoform 1 precursor |acidic epididymal glycoprotein-like 1 isoform 2 precursor |fusion of sperm to egg plasma membrane ; GO:0007342 |spermatogenesis ; GO:0007283 REAB|Fertilization consists of a sequence of specific cell-cell interactions culminating |in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion |occur through the interaction of complementary molecules that are localized to specific |domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region |or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein |encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) |family. This protein is expressed in the epididymis, is secreted into the epididymal |lumen, and binds to the postacrosomal region of the sperm head where it plays a |role at fertilization in sperm-egg fusion through complementary sites localized |on the egg surface. Two isoforms are encoded by transcript variants of this gene. CHR|6 PRD|protein DE-like |AEG-related protein |acidic epididymal glycoprotein-like 1 |cysteine-rich secretory protein-1 delta URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=109620 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=167[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:642057 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001131 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001131 DBL|UNIGENE:Hs.109620 |OMIM:601193 |SNP:167 MAP|6p21.3 CEL|extracellular space ; GO:0005615 HG|species == Mouse; gene == 9230112K08Rik; score == 328; expect == 1.7e-90; MEOW:MGgn0027077 (64%) |species == Human; gene == CRISP2; score == 216; expect == 1.2e-56; MEOW:HUgn0007180 (45%) |species == rat; score == 200; expect == 6.9e-52; MEOW:ref|XP_346849.1| (40%) |species == Human; gene == CRISP3; score == 198; expect == 3.4e-51; MEOW:HUgn0010321 (44%) |species == rat; score == 188; expect == 2.1e-48; MEOW:ref|XP_346850.1| (40%) |species == rat; score == 166; expect == 1.4e-41; MEOW:ref|XP_346022.1| (40%) } # EOR GENR { RETE|ID 1 HUgn0000168 DID 1 LocusLink:168 NAM 1 acrodermatitis enteropathica, zinc-deficiency type ORG 1 Homo sapiens SYM 1 AEZ ID|HUgn0000168 DID|LocusLink:168 ORG|Homo sapiens SYM|AEZ NAM|acrodermatitis enteropathica, zinc-deficiency type DBL|OMIM:201100 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:128360 } # EOR GENR { RETE|ID 1 HUgn0000169 CHR 1 3 DID 1 LocusLink:169 MAP 1 3 NAM 1 AF8 temperature sensitivity complementing ORG 1 Homo sapiens SYM 1 AF8T ID|HUgn0000169 DID|LocusLink:169 ORG|Homo sapiens SYM|AF8T NAM|AF8 temperature sensitivity complementing CHR|3 PRD|Temperature sensitive, tsAF8, complement DBL|OMIM:116950 MAP|3 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118980 } # EOR GENR { RETE|ID 1 HUgn0000170 DID 1 LocusLink:170 NAM 1 ankyloblepharon filiforme adnatum ORG 1 Homo sapiens SYM 1 AFA ID|HUgn0000170 DID|LocusLink:170 ORG|Homo sapiens SYM|AFA NAM|ankyloblepharon filiforme adnatum DBL|OMIM:106250 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265277 } # EOR GENR { RETE|ID 1 HUgn0000171 CHR 1 9 DID 1 LocusLink:171 MAP 1 9q32 NAM 1 acrofacial dysostosis 1, Nager type ORG 1 Homo sapiens SYM 1 AFD1 ID|HUgn0000171 DID|LocusLink:171 ORG|Homo sapiens SYM|AFD1 NAM|acrofacial dysostosis 1, Nager type SYN|AFDN CHR|9 DBL|OMIM:154400 MAP|9q32 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:265292 } # EOR GENR { RETE|ID 1 HUgn0000172 CHR 1 16 DID 1 LocusLink:172 MAP 1 16q24 NAM 1 AFG3 ATPase family gene 3-like 1 (yeast) ORG 1 Homo sapiens SYM 1 AFG3L1 ID|HUgn0000172 DID|LocusLink:172 ORG|Homo sapiens RSQ|REFSEQ:NM_001132 RPA|REFPROT:NP_001123 DBA|XM:NM_001132 |NA:AJ001496 |NA:AF329691 |NA:AF329692 |NA:AF329693 |NA:AF329694 |NA:AJ001495 |NA:AK056488 |NA:AK091293 |NA:AK097044 |NA:AK126911 |NA:AK128352 |NA:AK128804 |NA:AL832984 |NA:BC021245 |NA:BC045753 |NA:none PAC|XP:NP_001123 SYM|AFG3L1 NAM|AFG3 ATPase family gene 3-like 1 (yeast) SYN|AFG3 FNC|AFG3 ATPase family gene 3-like 1 CHR|16 PRD|ATPase family gene 3, yeast, homolog of |AFG3 (ATPase family gene 3, yeast)-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=337620 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=172[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6045053 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001132 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001132 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=337620 DBL|UNIGENE:Hs.337620 |OMIM:603020 |SNP:172 MAP|16q24 HG|species == Mouse; gene == Afg3l1; score == 139; expect == 5.1e-34; MEOW:MGgn0039515 (84%) |species == rat; score == 139; expect == 7.7e-34; MEOW:ref|XP_341715.1| (84%) } # EOR GENR { RETE|ID 1 HUgn0000173 CHR 1 4 DID 1 LocusLink:173 MAP 1 4q11-q13 NAM 1 afamin ORG 1 Homo sapiens SYM 1 AFM ID|HUgn0000173 DID|LocusLink:173 ORG|Homo sapiens RSQ|REFSEQ:NM_001133 RPA|REFPROT:NP_001124 DBA|XM:NM_001133 |NA:U51243 |NA:L35486 |NA:L35497 |NA:L35498 |NA:none PAC|XP:NP_001124 SYM|AFM NAM|afamin SYN|ALF |ALB2 |ALBA FNC|afamin precursor |transport ; GO:0006810 REAB|This gene is a member of the albumin gene family, which is comprised of four genes |that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related |serum transport proteins that are known to be evolutionarily related. The protein |encoded by this gene is regulated developmentally, expressed in the liver and secreted |into the bloodstream. CHR|4 PRD|alpha-albumin URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=168718 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=173[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:376475 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001133 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001133 DBL|UNIGENE:Hs.168718 |OMIM:104145 |SNP:173 MAP|4q11-q13 ENZ|carrier activity ; GO:0005386 CEL|extracellular space ; GO:0005615 HG|species == rat; score == 864; expect == 0.0; MEOW:ref|NP_758823.1| (67%) |species == Mouse; gene == Afm; score == 831; expect == 0.0; MEOW:MGgn0042086 (67%) |species == chimp; score == 483; expect == 1e-136; MEOW:sp|Q28789|FETA_PANTR (39%) |species == Human; gene == AFP; score == 480; expect == 8e-136; MEOW:HUgn0000174 (39%) |species == Human; gene == ALB; score == 412; expect == 2e-115; MEOW:HUgn0000213 (35%) } # EOR GENR { RETE|ID 1 HUgn0000174 CHR 1 4 DID 1 LocusLink:174 MAP 1 4q11-q13 NAM 1 alpha-fetoprotein ORG 1 Homo sapiens SYM 1 AFP ID|HUgn0000174 DID|LocusLink:174 ORG|Homo sapiens RSQ|REFSEQ:NM_001134 RPA|REFPROT:NP_001125 DBA|XM:NM_001134 |NA:M10949 |NA:M10950 |NA:M16110 |NA:Z19532 |NA:BC027881 |NA:V01514 |NA:none PAC|XP:NP_001125 SYM|AFP NAM|alpha-fetoprotein SYN|FETA |HPAFP FNC|alpha-fetoprotein precursor |transport ; GO:0006810 |immune response ; GO:0006955 REAB|This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk |sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often |associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein |may also be found in individuals with no obvious pathology. The protein is thought |to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin |genes are present in tandem in the same transcriptional orientation on chromosome |4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, |and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein |in amniotic fluid is used to measure renal loss of protein to screen for spina bifida |and anencephaly. CHR|4 PRD|alpha-fetoglobulin |alpha-1-fetoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155421 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=174[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001134 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001134 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=155421 DBL|UNIGENE:Hs.155421 |OMIM:104150 |SNP:174 |UWCM:119660.html MAP|4q11-q13 PHP|AFP deficiency, congenital |Hereditary persistence of alpha-fetoprotein ENZ|carrier activity ; GO:0005386 |nickel ion binding ; GO:0016151 CEL|extracellular space ; GO:0005615 HG|species == chimp; score == 1225; expect == 0.0; MEOW:sp|Q28789|FETA_PANTR (99%) |species == rat; score == 827; expect == 0.0; MEOW:ref|NP_036625.1| (65%) |species == Mouse; gene == Afp; score == 825; expect == 0.0; MEOW:MGgn0000215 (65%) |species == Human; gene == ALB; score == 500; expect == 8e-142; MEOW:HUgn0000213 (40%) |species == Human; gene == AFM; score == 480; expect == 8e-136; MEOW:HUgn0000173 (39%) } # EOR GENR { RETE|ID 1 HUgn0000175 CHR 1 4 DID 1 LocusLink:175 MAP 1 4q32-q33 NAM 1 aspartylglucosaminidase ORG 1 Homo sapiens SYM 1 AGA ID|HUgn0000175 DID|LocusLink:175 ORG|Homo sapiens RSQ|REFSEQ:NM_000027 RPA|REFPROT:NP_000018 DBA|XM:NM_000027 |NA:U21273 |NA:U21274 |NA:U21275 |NA:U21276 |NA:U21277 |NA:U21278 |NA:U21279 |NA:U21280 |NA:U21281 |NA:X61959 |NA:BC012392 |NA:M64073 |NA:M64075 |NA:M64076 |NA:X55762 |NA:X73071 |NA:none PAC|XP:NP_000018 SYM|AGA NAM|aspartylglucosaminidase SYN|AGU FNC|aspartylglucosaminidase precursor |protein deglycosylation ; GO:0006517 REAB|Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides |of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the |final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage |disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. CHR|4 PRD|glycosylasparaginase |aspartylglycosaminuria |aspartylglucosylamine deaspartylase |N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=207776 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=175[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118981 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000027 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000027 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=207776 |http://www.geneclinics.org/query?mim=208400 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00511 DBL|UNIGENE:Hs.207776 |OMIM:208400 |SNP:175 |UWCM:118981.html ENZ|EC:3.5.1.26 |N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity ; GO:0003948 |hydrolase activity ; GO:0016787 MAP|4q32-q33 PHP|Aspartylglucosaminuria CEL|lysosome ; GO:0005764 HG|species == Mouse; gene == Aga; score == 540; expect == 4e-154; MEOW:MGgn0000232 (82%) |species == rat; score == 527; expect == 4e-150; MEOW:ref|XP_214403.2| (77%) |species == Mosquito; gene == LOC16583; score == 340; expect == 8.3e-94; MEOW:AGgn0016583 (56%) |species == Fruitfly; gene == CG1827; score == 339; expect == 1.4e-93; MEOW:FBgn0033431 (55%) |species == rice; score == 300; expect == 1.3e-81; MEOW:gnl|TIGR|8352.m04292 (50%) |species == Weed; gene == At5g61540; score == 296; expect == 1.6e-80; MEOW:ATgn0021672 (47%) |species == Worm; gene == R04B3.2; score == 287; expect == 9.4e-78; MEOW:CEgn0014358 (48%) |species == Fruitfly; gene == CG10474; score == 279; expect == 1.8e-75; MEOW:FBgn0034427 (50%) } # EOR GENR { RETE|ID 1 HUgn0000176 CHR 1 15 DID 1 LocusLink:176 MAP 1 15q26.1 NAM 1 aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122) ORG 1 Homo sapiens SYM 1 AGC1 ID|HUgn0000176 DID|LocusLink:176 ORG|Homo sapiens RSQ|REFSEQ:NM_001135 |REFSEQ:NM_013227 RPA|REFPROT:NP_001126 |REFPROT:NP_037359 DBA|XM:NM_001135 |XM:NM_013227 |NA:L29488 |NA:S74659 |NA:J05062 |NA:M55172 |NA:U13192 |NA:X17406 |NA:none PAC|XP:NP_001126 |XP:NP_037359 SYM|AGC1 NAM|aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122) SYN|CSPG1 |MSK16 |CSPGCP FNC|aggrecan 1 isoform 1 precursor |aggrecan 1 isoform 2 precursor |cell adhesion ; GO:0007155 |heterophilic cell adhesion ; GO:0007157 REAB|Aggrecan 1 is a member of the aggrecan/versican proteoglycan family. As an integral |part of the extracellular matrix in cartilagenous tissue, the function of aggrecan |1 is to withstand compression in cartilage. Mutations in this gene may be involved |in skeletal dysplasia and spinal degeneration. Alternative splicing of two domains |has been observed in the aggrecan 1 gene; however, it is unknown whether other transcripts |exist or what effects they have on gene function. CHR|15 PRD|chondroitin sulfate proteoglycan 1, large aggregating proteoglycan |Aggrecan-1 (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2159 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=176[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127479 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013227 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013227 DBL|UNIGENE:Hs.2159 |OMIM:155760 |SNP:176 MAP|15q26.1 ENZ|sugar binding ; GO:0005529 |hyaluronic acid binding ; GO:0005540 CEL|extracellular matrix ; GO:0005578 HG|species == rat; score == 2085; expect == 0.0; MEOW:ref|NP_071526.1| (56%) |species == Mouse; gene == Agc1; score == 1794; expect == 0.0; MEOW:MGgn0000234 (56%) |species == Human; gene == BCAN; score == 364; expect == 5e-100; MEOW:HUgn0063827 (49%) |species == Human; gene == CSPG2; score == 360; expect == 6.2e-99; MEOW:HUgn0001462 (42%) |species == Human; gene == CSPG3; score == 325; expect == 2.5e-88; MEOW:HUgn0001463 (50%) } # EOR GENR { RETE|ID 1 HUgn0000177 CHR 1 6 DID 1 LocusLink:177 MAP 1 6p21.3 NAM 1 advanced glycosylation end product-specific receptor ORG 1 Homo sapiens SYM 1 AGER ID|HUgn0000177 DID|LocusLink:177 ORG|Homo sapiens RSQ|REFSEQ:NM_001136 |REFSEQ:NM_172197 RPA|REFPROT:NP_001127 |REFPROT:NP_751947 DBA|XM:NM_001136 |XM:NM_172197 |NA:AF001095 |NA:AF208289 |NA:AJ238896 |NA:D28769 |NA:U89336 |NA:AB036432 |NA:AB061668 |NA:AB061669 |NA:AJ133822 |NA:BC020669 |NA:M91211 |NA:none PAC|XP:NP_001127 |XP:NP_751947 SYM|AGER NAM|advanced glycosylation end product-specific receptor SYN|RAGE |MGC22357 FNC|advanced glycosylation end product-specific receptor isoform 1 precursor |advanced glycosylation end product-specific receptor isoform 2 precursor |cell surface receptor linked signal transduction ; GO:0007166 |inflammatory response ; GO:0006954 REAB|This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. |It is a receptor for various molecules, including the amyloidogenic form of serum |amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and |advanced glycation end products. The gene lies within the major histocompatibility |complex (MHC) class III region on chromosome 6. Alternative splicing results in |two transcript variants encoding different isoforms. CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=184 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=177[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:306354 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001136 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001136 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=184 DBL|UNIGENE:Hs.184 |OMIM:600214 |SNP:177 MAP|6p21.3 ENZ|transmembrane receptor activity ; GO:0004888 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 561; expect == 2e-160; MEOW:ref|NP_445788.1| (77%) |species == Mouse; gene == Ager; score == 531; expect == 2e-151; MEOW:MGgn0000235 (77%) } # EOR GENR { RETE|ID 1 HUgn0000178 CHR 1 1 DID 1 LocusLink:178 MAP 1 1p21 NAM 1 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) ORG 1 Homo sapiens SYM 1 AGL ID|HUgn0000178 DID|LocusLink:178 ORG|Homo sapiens RSQ|REFSEQ:NM_000028 |REFSEQ:NM_000642 |REFSEQ:NM_000643 |REFSEQ:NM_000644 |REFSEQ:NM_000645 |REFSEQ:NM_000646 RPA|REFPROT:NP_000019 |REFPROT:NP_000633 |REFPROT:NP_000634 |REFPROT:NP_000635 |REFPROT:NP_000636 |REFPROT:NP_000637 DBA|XM:NM_000028 |XM:NM_000642 |XM:NM_000643 |XM:NM_000644 |XM:NM_000645 |XM:NM_000646 |NA:M85168 |NA:U84007 |NA:U84008 |NA:U84009 |NA:U84010 |NA:U84011 |NA:none PAC|XP:NP_000019 |XP:NP_000633 |XP:NP_000634 |XP:NP_000635 |XP:NP_000636 |XP:NP_000637 SYM|AGL NAM|amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SYN|GDE FNC|amylo-1,6-glucosidase, 4-alpha-glucanotransferase 4-alphisoform 1 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 1 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 2 |amylo-1,6-glucosidase, 4-alpha-glucanotransferase isoform 3 |glycogen biosynthesis ; GO:0005978 |carbohydrate metabolism ; GO:0005975 REAB|Glycogen debranching enzyme is involved in glycogen degradation and has two independent |catalytic activities: a 4-alpha-glucotransferase activity (EC 2.4.1.25) and a amylo-1,6-glucosidase |activity (EC 3.4.1.33). Both activities occur at different sites on the single |polypeptide chain. Mutations in this gene cause glycogen storage disease. A wide |range of clinical and enzymatic variability occurs in glycogen debrancher deficiency, |some of which may be due to tissue-specific alternative splicing. Six splice varients |that differ in the 5' end have been identified in liver and muscle tissue. Variants |1, 5, and 6 are present in both liver and muscle, whereas variants 2, 3, and 4 occur |in muscle. Variants 1 through 4 encode identical proteins (isoform 1) that include |27 N-terminal amino acids not found in splice variants 5 and 6. Variants 5 and |6 encode different amino-terminal ends of 10 and 11 amino acids in protein isoforms |2 and 3, respectively, with the remainder of the peptide identical to that of isoforms |1. CHR|1 PRD|glycogen debranching enzyme |Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) |amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=904 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=178[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132644 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000028 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000028 |http://www.geneclinics.org/query?mim=232400 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 DBL|UNIGENE:Hs.904 |OMIM:232400 |SNP:178 ENZ|EC:2.4.1.25 |EC:3.2.1.33 |4-alpha-glucanotransferase activity ; GO:0004134 |amylo-alpha-1,6-glucosidase activity ; GO:0004135 |transferase activity, transferring glycosyl groups ; GO:0016757 |hydrolase activity, acting on glycosyl bonds ; GO:0016798 MAP|1p21 PHP|Glycogen storage disease IIIa |Glycogen storage disease IIIb CEL|debranching enzyme ; GO:0005957 HG|species == rat; score == 2900; expect == 0.0; MEOW:ref|XP_342332.1| (88%) |species == Mosquito; score == 1345; expect == 0.0; MEOW:AGgn0013922 (45%) |species == Worm; gene == R06A4.8; score == 1216; expect == 0.0; MEOW:CEgn0014480 (43%) |species == Yeast; gene == GDB1; score == 926; expect == 0.0; MEOW:SGgn0006388 (38%) |species == Fruitfly; gene == CG9485; score == 691; expect == 0.0; MEOW:FBgn0034618 (48%) } # EOR GENR { RETE|ID 1 HUgn0000179 CHR 1 X DID 1 LocusLink:179 MAP 1 Xp22 NAM 1 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) ORG 1 Homo sapiens SYM 1 AGMX2 ID|HUgn0000179 DID|LocusLink:179 ORG|Homo sapiens SYM|AGMX2 NAM|agammaglobulinemia, X-linked 2 (with growth hormone deficiency) SYN|IMD6 |XLA2 CHR|X DBL|OMIM:300310 MAP|Xp22 PHP|Agammaglobulinemia, type 2, X-linked URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119661 } # EOR GENR { RETE|ID 1 HUgn0000181 CHR 1 16 DID 1 LocusLink:181 MAP 1 16q22 NAM 1 agouti related protein homolog (mouse) ORG 1 Homo sapiens SYM 1 AGRP ID|HUgn0000181 DID|LocusLink:181 ORG|Homo sapiens RSQ|REFSEQ:NM_001138 |REFSEQ:NM_007316 RPA|REFPROT:NP_001129 |REFPROT:NP_015531 DBA|XM:NM_001138 |XM:NM_007316 |NA:AF314194 |NA:U88063 |NA:U89485 |NA:none PAC|XP:NP_001129 |XP:NP_015531 SYM|AGRP NAM|agouti related protein homolog (mouse) SYN|ART |AGRT |ASIP2 FNC|agouti related protein homolog isoform 1 |agouti related protein homolog isoform 2 |neuropeptide signaling pathway ; GO:0007218 |feeding behavior ; GO:0007631 REAB|Agouti-related protein is an antagonist of the melanocortin-3 and melanocortin-4 |receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin |receptor and/or intracellular calcium regulation. Agouti-related protein is alternatively |spliced into 2 variants which differ in 5' untranslated sequence length. CHR|16 PRD|Agrt |agouti (mouse) related protein |Agouti-related transcript, mouse, homolog of URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=104633 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=181[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:9848638 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001138 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001138 DBL|UNIGENE:Hs.104633 |OMIM:602311 |SNP:181 MAP|16q22 PHP|Obesity, late-onset ENZ|neuropeptide hormone activity ; GO:0005184 |receptor binding ; GO:0005102 HG|species == Mouse; gene == Agrp; score == 194; expect == 1.4e-50; MEOW:MGgn0000244 (81%) |species == rat; score == 161; expect == 1.1e-39; MEOW:ref|XP_214672.2| (70%) } # EOR GENR { RETE|ID 1 HUgn0000182 CHR 1 20 DID 1 LocusLink:182 MAP 1 20p12.1-p11.23 NAM 1 jagged 1 (Alagille syndrome) ORG 1 Homo sapiens SYM 1 JAG1 ID|HUgn0000182 DID|LocusLink:182 ORG|Homo sapiens RSQ|REFSEQ:NM_000214 RPA|REFPROT:NP_000205 DBA|XM:NM_000214 |NA:AF003837 |NA:AF028593 |NA:U61276 |NA:U73936 |NA:U77720 |NA:U77914 PAC|XP:NP_000205 SYM|JAG1 NAM|jagged 1 (Alagille syndrome) SYN|AGS |AHD |AWS |HJ1 |JAGL1 FNC|jagged 1 precursor REAB|The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged |protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human |homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged |1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also |been shown to play a role in hematopoiesis. CHR|20 PRD|jagged1 (Alagille syndrome) URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=409202 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=182[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6175920 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000214 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000214 |http://www.geneclinics.org/query?mim=601920 DBL|UNIGENE:Hs.409202 |OMIM:601920 |SNP:182 MAP|20p12.1-p11.23 PHP|Alagille syndrome |Deafness, congenital heart defects, and posterior embryotoxon |Tetralogy of Fallot HG|species == Mouse; gene == Jag1; score == 2601; expect == 0.0; MEOW:MGgn0006627 (96%) |species == rat; score == 2594; expect == 0.0; MEOW:ref|NP_062020.1| (96%) |species == Zfish; gene == jag3; score == 2064; expect == 0.0; MEOW:ZFgn0002399 (74%) |species == Zfish; gene == jag1; score == 1859; expect == 0.0; MEOW:ZFgn0002410 (66%) |species == Human; gene == JAG2; score == 1449; expect == 0.0; MEOW:HUgn0003714 (53%) |species == Fruitfly; gene == Ser; score == 727; expect == 0.0; MEOW:FBgn0004197 (32%) |species == Mosquito; gene == LOC11235; score == 613; expect == 1e-175; MEOW:AGgn0011235 (34%) |species == Mosquito; gene == LOC5397; score == 563; expect == 2e-160; MEOW:AGgn0005397 (35%) |species == Worm; gene == lin-12; score == 327; expect == 1.4e-89; MEOW:CEgn0001831 (30%) |species == Worm; gene == W02C12.1; score == 321; expect == 2.1e-87; MEOW:CEgn0017372 (36%) |species == Worm; gene == crb-1; score == 282; expect == 1.4e-75; MEOW:CEgn0008203 (31%) } # EOR GENR { RETE|ID 1 HUgn0000183 CHR 1 1 DID 1 LocusLink:183 MAP 1 1q42-q43 NAM 1 angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) ORG 1 Homo sapiens SYM 1 AGT ID|HUgn0000183 DID|LocusLink:183 ORG|Homo sapiens RSQ|REFSEQ:NM_000029 RPA|REFPROT:NP_000020 DBA|XM:NM_000029 |NA:M24689 |NA:X15324 |NA:BC011519 |NA:BT006851 |NA:K02215 |NA:M69110 |NA:none PAC|XP:NP_000020 SYM|AGT NAM|angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) SYN|ANHU |SERPINA8 FNC|angiotensinogen precursor |regulation of blood pressure ; GO:0008217 |pregnancy ; GO:0007565 |cell surface receptor linked signal transduction ; GO:0007166 |cell-cell signaling ; GO:0007267 REAB|The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, |is expressed in the liver and is cleaved by the enzyme renin in response to lowered |blood pressure. The resulting product, angiotensin I is then cleaved by angiotensin |converting enzyme (ACE) to generate the physiologically active enzyme angiotensin |II. The protein is involved in maintaining blood pressure and in the pathogenesis |of essential hypertension and preeclampsia. CHR|1 PRD|angiotensin I |pre-angiotensinogen |angiotensin II precursor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=19383 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=183[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118750 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000029 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000029 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=19383 |http://www.geneclinics.org/query?mim=106150 DBL|UNIGENE:Hs.19383 |OMIM:106150 |SNP:183 MAP|1q42-q43 PHP|Hypertension, essential, susceptibility to |Preeclampsia, susceptibility to ENZ|hormone activity ; GO:0005179 |serine protease inhibitor activity ; GO:0004867 CEL|soluble fraction ; GO:0005625 HG|species == chimp; score == 956; expect == 0.0; MEOW:sp|Q9GLN8|Q9GLN8 (99%) |species == chimp; score == 953; expect == 0.0; MEOW:sp|Q9GLP7|Q9GLP7 (98%) |species == rat; score == 586; expect == 1e-167; MEOW:ref|NP_602308.1| (63%) |species == Mouse; gene == Agt; score == 558; expect == 3e-159; MEOW:MGgn0000245 (60%) |species == chimp; score == 480; expect == 3e-136; MEOW:sp|Q95J13|Q95J13 (98%) } # EOR GENR { RETE|ID 1 HUgn0000184 DID 1 LocusLink:184 NAM 1 angiotensin binding protein ORG 1 Homo sapiens SYM 1 AGTBP ID|HUgn0000184 DID|LocusLink:184 ORG|Homo sapiens SYM|AGTBP NAM|angiotensin binding protein URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:682522 } # EOR GENR { RETE|ID 1 HUgn0000185 CHR 1 3 DID 1 LocusLink:185 MAP 1 3q21-q25 NAM 1 angiotensin II receptor, type 1 ORG 1 Homo sapiens SYM 1 AGTR1 ID|HUgn0000185 DID|LocusLink:185 ORG|Homo sapiens RSQ|REFSEQ:NM_000685 |REFSEQ:NM_004835 |REFSEQ:NM_009585 |REFSEQ:NM_031850 |REFSEQ:NM_032049 RPA|REFPROT:NP_000676 |REFPROT:NP_004826 |REFPROT:NP_033611 |REFPROT:NP_114038 |REFPROT:NP_114438 DBA|XM:NM_000685 |XM:NM_004835 |XM:NM_009585 |XM:NM_031850 |XM:NM_032049 |NA:AF245699 |NA:M91464 |NA:S70433 |NA:U07144 |NA:Z11162 |NA:BC022447 |NA:D13814 |NA:M87290 |NA:M93394 |NA:S77410 |NA:X65699 |NA:none PAC|XP:NP_000676 |XP:NP_004826 |XP:NP_033611 |XP:NP_114038 |XP:NP_114438 SYM|AGTR1 NAM|angiotensin II receptor, type 1 SYN|AT1 |AG2S |AT1B |AT2R1 |HAT1R |AGTR1A |AGTR1B |AT2R1A |AT2R1B FNC|angiotensin II receptor, type 1 |cytosolic calcium ion concentration elevation ; GO:0007204 |G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) ; GO:0007200 |fluid secretion ; GO:0007589 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |circulation ; GO:0008015 REAB|Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone |secretion. It is an important effector controlling blood pressure and volume in |the cardiovascular system. It acts through at least two types of receptors. This |gene encodes the type 1 receptor which is thought to mediate the major cardiovascular |effects of angiotensin II. AGTR1 may play role in the generation of reperfusion |arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. |It was previously thought that a related gene AGTR1B exists; however, it is now |believed that there is only one AGTR1 gene. The gene expresses at least four transcript |variants; additional variants have been described but their full length nature has |not been determined. Exon 5 contains the entire coding sequence and is present in |all transcript variants. CHR|3 PRD|angiotensin receptor 1 |angiotensin receptor 1B |type-1B angiotensin II receptor URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=89472 |http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=197063 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=185[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:132359 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_031850 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_031850 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=89472 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=197063 |http://www.geneclinics.org/query?mim=106165 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA43 DBL|UNIGENE:Hs.89472 |UNIGENE:Hs.197063 |OMIM:106165 |SNP:185 MAP|3q21-q25 PHP|Hypertension, essential ENZ|angiotensin type II receptor activity ; GO:0004945 CEL|integral to plasma membrane ; GO:0005887 |plasma membrane ; GO:0005886 HG|species == Human; gene == RPL38P1; score == 657; expect == 0.0; MEOW:HUgn0116809 (100%) |species == chimp; score == 656; expect == 0.0; MEOW:sp|Q9GLN9|Q9GLN9 (99%) |species == Mouse; gene == Agtr1b; score == 644; expect == 0.0; MEOW:MGgn0000247 (92%) |species == rat; score == 628; expect == 1e-180; MEOW:ref|NP_112247.1| (94%) |species == Mouse; gene == Agtr1; score == 627; expect == 1e-180; MEOW:MGgn0000246 (94%) |species == rat; score == 621; expect == 2e-178; MEOW:ref|NP_112271.1| (94%) |species == Zfish; gene == cxcr4b; score == 136; expect == 1.4e-33; MEOW:ZFgn0002126 (32%) |species == Zfish; gene == cxcr4a; score == 131; expect == 3.5e-32; MEOW:ZFgn0002418 (33%) |species == Fruitfly; gene == AlCR2; score == 130; expect == 8.6e-31; MEOW:FBgn0036789 (31%) } # EOR GENR { RETE|ID 1 HUgn0000186 CHR 1 X DID 1 LocusLink:186 MAP 1 Xq22-q23 NAM 1 angiotensin II receptor, type 2 ORG 1 Homo sapiens SYM 1 AGTR2 ID|HUgn0000186 DID|LocusLink:186 ORG|Homo sapiens RSQ|REFSEQ:NM_000686 RPA|REFPROT:NP_000677 DBA|XM:NM_000686 |NA:L34579 |NA:U10273 |NA:U15592 |NA:U20860 |NA:U27478 |NA:U16957 |NA:none PAC|XP:NP_000677 SYM|AGTR2 NAM|angiotensin II receptor, type 2 SYN|AT2 FNC|angiotensin II receptor, type 2 |regulation of blood pressure ; GO:0008217 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |behavior ; GO:0007610 |apoptosis ; GO:0006915 REAB|Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone |secretion. It is an important effector controlling blood pressure and volume in |the cardiovascular system. It acts through at least two types of receptors termed |AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an |intergral membrane protein. It plays a role in the central nervous system and cardiovascular |functions that are mediated by the renin-angiotensin system. This receptor mediates |programmed cell death (apoptosis). In adults, it is highly expressed in myometrium |with lower levels in adrenal gland and fallopian tube. It is highly expressed in |fetal kidney and intestine. The human AGTR2 gene is composed of three exons and |spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and |exon 3 harbors the entire uninterrupted open reading frame. CHR|X PRD|angiotensin receptor 2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=405348 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=186[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:134188 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000686 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000686 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA44 DBL|UNIGENE:Hs.405348 |OMIM:300034 |SNP:186 MAP|Xq22-q23 ENZ|angiotensin type II receptor activity ; GO:0004945 |protein kinase inhibitor activity ; GO:0004860 |rhodopsin-like receptor activity ; GO:0001584 CEL|integral to plasma membrane ; GO:0005887 HG|species == rat; score == 659; expect == 0.0; MEOW:ref|NP_036626.1| (92%) |species == Mouse; gene == Agtr2; score == 657; expect == 0.0; MEOW:MGgn0000248 (91%) |species == Human; gene == AGTR1; score == 191; expect == 5.4e-49; MEOW:HUgn0000185 (37%) |species == Human; gene == RPL38P1; score == 191; expect == 5.4e-49; MEOW:HUgn0116809 (37%) |species == chimp; score == 191; expect == 1.0e-50; MEOW:sp|Q9GLN9|Q9GLN9 (37%) |species == Human; gene == BDKRB2; score == 183; expect == 1.6e-46; MEOW:HUgn0000624 (33%) |species == Human; gene == CCR1; score == 157; expect == 1.1e-38; MEOW:HUgn0001230 (32%) |species == Human; gene == BDKRB1; score == 156; expect == 2.4e-38; MEOW:HUgn0000623 (32%) } # EOR GENR { RETE|ID 1 HUgn0000187 CHR 1 11 DID 1 LocusLink:187 MAP 1 11q12 NAM 1 angiotensin II receptor-like 1 ORG 1 Homo sapiens SYM 1 AGTRL1 ID|HUgn0000187 DID|LocusLink:187 ORG|Homo sapiens RSQ|REFSEQ:NM_005161 RPA|REFPROT:NP_005152 DBA|XM:NM_005161 |NA:U03642 |NA:AK074514 |NA:AK075252 |NA:AK097232 |NA:BC032688 |NA:X89271 |NA:none PAC|XP:NP_005152 SYM|AGTRL1 NAM|angiotensin II receptor-like 1 SYN|APJ |MGC45246 FNC|angiotensin II receptor-like 1 REAB|There are at least two distinct receptor subtypes of angiotensin II: angiotensin |II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of |the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is related |to the AGTR1 gene by sequence similarity. It was cloned based on a conserved transmembrane |domain found in members of the G protein-coupled receptor (GPCR) gene family. CHR|11 PRD|angiotensin receptor-like 1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=438311 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=187[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:364121 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005161 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005161 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=438311 DBL|UNIGENE:Hs.438311 |OMIM:600052 |SNP:187 MAP|11q12 HG|species == Mouse; gene == Agtrl1; score == 615; expect == 9e-177; MEOW:MGgn0000250 (92%) |species == rat; score == 591; expect == 2e-169; MEOW:ref|NP_112639.1| (89%) |species == Human; gene == AGTR1; score == 154; expect == 1.0e-37; MEOW:HUgn0000185 (33%) |species == Human; gene == RPL38P1; score == 154; expect == 1.0e-37; MEOW:HUgn0116809 (33%) |species == chimp; score == 154; expect == 1.9e-39; MEOW:sp|Q9GLN9|Q9GLN9 (33%) |species == Human; gene == GPR15; score == 138; expect == 4.1e-33; MEOW:HUgn0002838 (30%) |species == chimp; score == 138; expect == 4.1e-33; MEOW:sp|AAD52040|AAD52040 (30%) |species == chimp; score == 138; expect == 4.1e-33; MEOW:sp|Q9BG77|Q9BG77 (30%) |species == Human; gene == CMKLR1; score == 134; expect == 6.2e-32; MEOW:HUgn0001240 (31%) } # EOR GENR { RETE|ID 1 HUgn0000188 CHR 1 22 DID 1 LocusLink:188 MAP 1 22q12.3 NAM 1 angiotensin II receptor-like 2 ORG 1 Homo sapiens SYM 1 AGTRL2 ID|HUgn0000188 DID|LocusLink:188 ORG|Homo sapiens RSQ|REFSEQ:NM_005162 RPA|REFPROT:NP_005153 DBA|XM:NM_005162 |NA:L48211 PAC|XP:NP_005153 SYM|AGTRL2 NAM|angiotensin II receptor-like 2 SYN|ATR2L1 FNC|angiotensin II receptor-like 2 |cell surface receptor linked signal transduction ; GO:0007166 REAB|There are at least two distinct receptor subtypes of angiotensin II: angiotensin |II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of |the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is predicted |to encode a 71-amino acid protein with significant similarity to the carboxyl-terminal |regulatory domain of angiotensin II receptor, type 1. CHR|22 PRD|angiotensin receptor-like 2 |angiotensin II receptor-like URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=433156 |http://www.gdb.org/gdb-bin/genera/accno?GDB:1316745 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005162 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005162 DBL|UNIGENE:Hs.433156 |OMIM:601256 |SNP:188 MAP|22q12.3 ENZ|receptor activity ; GO:0004872 } # EOR GENR { RETE|ID 1 HUgn0000189 CHR 1 2 DID 1 LocusLink:189 MAP 1 2q36-q37 NAM 1 alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) ORG 1 Homo sapiens SYM 1 AGXT ID|HUgn0000189 DID|LocusLink:189 ORG|Homo sapiens RSQ|REFSEQ:NM_000030 RPA|REFPROT:NP_000021 DBA|XM:NM_000030 |NA:M61763 |NA:AF191687 |NA:AF348451 |NA:D13368 |NA:X53414 |NA:X56092 |NA:none PAC|XP:NP_000021 SYM|AGXT NAM|alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) SYN|AGT |SPT |AGT1 |SPAT |TLH6 |AGXT1 FNC|alanine-glyoxylate aminotransferase REAB|The human AGXT protein product is normally localized in the peroxisomes of liver |where it is involved in glyoxylate detoxification. Defects in the AGXT gene, some |of which alter subcellular targetting, are the cause of Oxalosis I. CHR|2 PRD|serine-pyruvate aminotransferase |alanine-glyoxylate aminotransferase, liver-specific peroxisomal URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=144567 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=189[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:127113 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000030 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000030 |http://www.geneclinics.org/query?mim=604285 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.144567 |OMIM:604285 |SNP:189 |UWCM:127113.html ENZ|EC:2.6.1.44 |EC:2.6.1.51 |alanine-glyoxylate transaminase activity ; GO:0008453 MAP|2q36-q37 PHP|Hyperoxaluria, primary, type 1 CEL|peroxisome ; GO:0005777 HG|species == Mouse; gene == Agxt; score == 616; expect == 6e-177; MEOW:MGgn0000251 (76%) |species == rat; score == 611; expect == 2e-175; MEOW:ref|NP_085914.1| (79%) |species == Mosquito; gene == LOC19757; score == 357; expect == 6.3e-99; MEOW:AGgn0019757 (46%) |species == Worm; gene == T14D7.1; score == 343; expect == 1.3e-94; MEOW:CEgn0016193 (44%) |species == Mosquito; gene == LOC15996; score == 329; expect == 1.2e-90; MEOW:AGgn0015996 (46%) |species == Fruitfly; gene == Spat; score == 173; expect == 4.8e-44; MEOW:FBgn0014031 (48%) |species == rice; score == 134; expect == 1.2e-31; MEOW:gnl|TIGR|8356.m03803 (30%) } # EOR GENR { RETE|ID 1 HUgn0000190 CHR 1 X DID 1 LocusLink:190 MAP 1 Xp21.3-p21.2 NAM 1 nuclear receptor subfamily 0, group B, member 1 ORG 1 Homo sapiens SYM 1 NR0B1 ID|HUgn0000190 DID|LocusLink:190 ORG|Homo sapiens RSQ|REFSEQ:NM_000475 RPA|REFPROT:NP_000466 DBA|XM:NM_000475 |NA:U31929 |NA:BC011564 |NA:S74720 |NA:none PAC|XP:NP_000466 SYM|NR0B1 NAM|nuclear receptor subfamily 0, group B, member 1 SYN|AHC |AHX |AHCH |DAX1 |NROB1 FNC|adrenal hypoplasia protein |sex determination ; GO:0007530 |regulation of transcription, DNA-dependent ; GO:0006355 |steroid biosynthesis ; GO:0006694 REAB|Adrenal hypoplasia protein is an orphan nuclear hormone receptor and contains a DNA-binding |domain. The AHC protein acts as a dominant-negative regulator of transcription |which is mediated by the retinoic acid receptor. AHC also functions as an anti-testis |gene by acting antagonistically to Sry. Mutations in AHC result in both X-linked |congenital adrenal hypoplasia and hypogonadotropic hypogonadism. CHR|X PRD|adrenal hypoplasia, congenital URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=268490 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=190[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118982 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000475 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000475 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=268490 |http://www.geneclinics.org/query?mim=300200 DBL|UNIGENE:Hs.268490 |OMIM:300200 |SNP:190 |UWCM:118982.html |IXDB:533401 MAP|Xp21.3-p21.2 PHP|Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism |Dosage-sensitive sex reversal ENZ|steroid hormone receptor activity ; GO:0003707 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == chimp; score == 880; expect == 0.0; MEOW:sp|Q9BG97|Q9BG97 (98%) |species == rat; score == 625; expect == 2e-179; MEOW:ref|NP_445769.1| (64%) |species == Mouse; gene == Nr0b1; score == 612; expect == 2e-175; MEOW:MGgn0013421 (65%) |species == Human; gene == NR0B2; score == 138; expect == 7.6e-33; MEOW:HUgn0008431 (39%) } # EOR GENR { RETE|ID 1 HUgn0000191 CHR 1 20 DID 1 LocusLink:191 MAP 1 20cen-q13.1 NAM 1 S-adenosylhomocysteine hydrolase ORG 1 Homo sapiens SYM 1 AHCY ID|HUgn0000191 DID|LocusLink:191 ORG|Homo sapiens RSQ|REFSEQ:NM_000687 RPA|REFPROT:NP_000678 DBA|XM:NM_000687 |NA:AK097610 |NA:BC010018 |NA:BC011606 |NA:BT006697 |NA:M61831 |NA:M61832 |NA:none PAC|XP:NP_000678 SYM|AHCY NAM|S-adenosylhomocysteine hydrolase SYN|SAHH FNC|S-adenosylhomocysteine hydrolase |one-carbon compound metabolism ; GO:0006730 REAB|S-adenosylhomocysteine hydrolase catalyzes the reversible hydrolysis of S-adenosylhomocysteine |(AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular |S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation |reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. |S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. CHR|20 PRD|adenosylhomocysteinase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=388004 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=191[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118983 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000687 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000687 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=388004 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00271 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00450 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24636 DBL|UNIGENE:Hs.388004 |OMIM:180960 |SNP:191 ENZ|EC:3.3.1.1 |adenosylhomocysteinase activity ; GO:0004013 |hydrolase activity ; GO:0016787 MAP|20cen-q13.1 CEL|cytoplasm ; GO:0005737 HG|species == Mouse; gene == Ahcy; score == 837; expect == 0.0; MEOW:MGgn0000255 (96%) |species == rat; score == 836; expect == 0.0; MEOW:ref|NP_058897.1| (96%) |species == Human; gene == LOC129560; score == 706; expect == 0.0; MEOW:HUgn0129560 (81%) |species == Fruitfly; gene == Ahcy13; score == 688; expect == 0.0; MEOW:FBgn0014455 (80%) |species == Mosquito; score == 684; expect == 0.0; MEOW:AGgn0011950 (79%) |species == Worm; gene == dpy-14; score == 678; expect == 0.0; MEOW:CEgn0000423 (76%) |species == Yeast; gene == SAH1; score == 621; expect == 6e-179; MEOW:SGgn0000845 (71%) |species == Weed; gene == At4g13940; score == 482; expect == 1e-136; MEOW:ATgn0018734 (56%) |species == Weed; gene == At3g23810; score == 476; expect == 1e-134; MEOW:ATgn0015614 (55%) |species == rice; score == 392; expect == 2e-109; MEOW:gnl|TIGR|8358.m01928 (52%) } # EOR GENR { RETE|ID 1 HUgn0000192 CHR 1 X DID 1 LocusLink:192 MAP 1 Xp22 NAM 1 Aicardi syndrome ORG 1 Homo sapiens SYM 1 AIC ID|HUgn0000192 DID|LocusLink:192 ORG|Homo sapiens SYM|AIC NAM|Aicardi syndrome CHR|X DBL|OMIM:304050 MAP|Xp22 PHP|Aicardi syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118986 } # EOR GENR { RETE|ID 1 HUgn0000193 CHR 1 X DID 1 LocusLink:193 MAP 1 Xq21 NAM 1 Allan-Herndon-Dudley syndrome ORG 1 Homo sapiens SYM 1 AHDS ID|HUgn0000193 DID|LocusLink:193 ORG|Homo sapiens SYM|AHDS NAM|Allan-Herndon-Dudley syndrome CHR|X PRD|Allan-Herndon-Dudley mental retardation syndrome DBL|OMIM:309600 MAP|Xq21 PHP|Allan-Herndon syndrome URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:125899 } # EOR GENR { RETE|ID 1 HUgn0000195 CHR 1 11 DID 1 LocusLink:195 MAP 1 11q12-q13 NAM 1 AHNAK nucleoprotein (desmoyokin) ORG 1 Homo sapiens SYM 1 AHNAK ID|HUgn0000195 DID|LocusLink:195 ORG|Homo sapiens DBA|NA:AK128868 |NA:M80899 |NA:X74818 |NA:none SYM|AHNAK NAM|AHNAK nucleoprotein (desmoyokin) SYN|AHNAKRS CHR|11 PRD|desmoyokin |AHNAK-related URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=378738 |http://www.gdb.org/gdb-bin/genera/accno?GDB:386063 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=AK128868 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=AK128868 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=arev.figgrp.1395 DBL|UNIGENE:Hs.378738 |OMIM:103390 |SNP:195 MAP|11q12-q13 FNC|neurogenesis ; GO:0007399 CEL|nucleus ; GO:0005634 } # EOR GENR { RETE|ID 1 HUgn0000196 CHR 1 7 DID 1 LocusLink:196 MAP 1 7p15 NAM 1 aryl hydrocarbon receptor ORG 1 Homo sapiens SYM 1 AHR ID|HUgn0000196 DID|LocusLink:196 ORG|Homo sapiens RSQ|REFSEQ:NM_001621 RPA|REFPROT:NP_001612 DBA|XM:NM_001621 |XM:NM_001621 |NA:D31708 |NA:D38044 |NA:U28063 |NA:U28064 |NA:U28066 |NA:BC021696 |NA:D16354 |NA:L19872 |NA:none PAC|XP:NP_001612 |XP:NP_001612 SYM|AHR NAM|aryl hydrocarbon receptor FNC|aryl hydrocarbon receptor |cell cycle ; GO:0007049 |response to stress ; GO:0006950 |regulation of transcription, DNA-dependent ; GO:0006355 |apoptosis ; GO:0006915 |signal transduction ; GO:0007165 |transcription from Pol II promoter ; GO:0006366 |response to xenobiotic stimulus ; GO:0009410 REAB|Aryl hydrocarbon receptor is a ligand-activated transcription factor involved in |the regulation of biological responses to planar aromatic hydrocarbons. AHR has |been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. | AHR ligands included a variety of aromatic hydrocarbons. CHR|7 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=170087 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=196[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:138471 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001621 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001621 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=170087 DBL|UNIGENE:Hs.170087 |OMIM:600253 |SNP:196 MAP|7p15 ENZ|ligand-dependent nuclear receptor activity ; GO:0004879 |transcription factor activity ; GO:0003700 CEL|nucleus ; GO:0005634 HG|species == rat; score == 1152; expect == 0.0; MEOW:ref|XP_346770.1| (70%) |species == Mouse; gene == Ahr; score == 1099; expect == 0.0; MEOW:MGgn0000262 (71%) |species == Zfish; gene == ahr1; score == 564; expect == 8e-161; MEOW:ZFgn0002566 (47%) |species == Zfish; gene == ahr2; score == 545; expect == 2e-156; MEOW:ZFgn0000280 (51%) |species == Fruitfly; gene == ss; score == 330; expect == 1.7e-90; MEOW:FBgn0003513 (45%) |species == Mosquito; gene == LOC14282; score == 327; expect == 1.1e-89; MEOW:AGgn0014282 (48%) |species == Human; gene == AHRR; score == 275; expect == 1.0e-73; MEOW:HUgn0057491 (45%) |species == Worm; gene == ahr-1; score == 248; expect == 9.1e-66; MEOW:CEgn0000052 (34%) } # EOR GENR { RETE|ID 1 HUgn0000197 CHR 1 3 DID 1 LocusLink:197 MAP 1 3q27 NAM 1 alpha-2-HS-glycoprotein ORG 1 Homo sapiens SYM 1 AHSG ID|HUgn0000197 DID|LocusLink:197 ORG|Homo sapiens RSQ|REFSEQ:NM_001622 RPA|REFPROT:NP_001613 DBA|XM:NM_001622 |NA:D67013 |NA:BC048198 |NA:BC052590 |NA:D67012 |NA:M16961 |NA:none PAC|XP:NP_001613 SYM|AHSG NAM|alpha-2-HS-glycoprotein SYN|AHS |HSGA |FETUA FNC|alpha-2-HS-glycoprotein |ossification ; GO:0001503 |regulation of bone mineralization ; GO:0030500 REAB|Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized |by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are |both cleaved from a proprotein encoded from a single mRNA. It is involved in several |functions, such as endocytosis, brain development and the formation of bone tissue. |The protein is commonly present in the cortical plate of the immature cerebral cortex |and bone marrow hemopoietic matrix, and it has therefore been postulated that it |participates in the development of the tissues. However, its exact significance |is still obscure. CHR|3 PRD|Alpha-2HS-glycoprotein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=324746 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=197[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118985 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001622 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001622 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=324746 DBL|UNIGENE:Hs.324746 |OMIM:138680 |SNP:197 MAP|3q27 ENZ|cysteine protease inhibitor activity ; GO:0004869 CEL|soluble fraction ; GO:0005625 |extracellular space ; GO:0005615 HG|species == chimp; score == 590; expect == 1e-170; MEOW:sp|Q9N2D0|A2HS_PANTR (98%) |species == Mouse; gene == Ahsg; score == 414; expect == 4e-116; MEOW:MGgn0000265 (58%) |species == rat; score == 372; expect == 2e-103; MEOW:ref|NP_037030.1| (54%) } # EOR GENR { RETE|ID 1 HUgn0000198 CHR 1 X DID 1 LocusLink:198 MAP 1 Xp21-q21 NAM 1 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) ORG 1 Homo sapiens SYM 1 AIED ID|HUgn0000198 DID|LocusLink:198 ORG|Homo sapiens SYM|AIED NAM|Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) SYN|OA2 CHR|X PRD|Aland island eye disease (ocular albinism, Forsius-Eriksson type) DBL|OMIM:300600 MAP|Xp21-q21 PHP|Ocular albinism, Forsius-Eriksson type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:119663 } # EOR GENR { RETE|ID 1 HUgn0000199 CHR 1 6 DID 1 LocusLink:199 MAP 1 6p21.3 NAM 1 allograft inflammatory factor 1 ORG 1 Homo sapiens SYM 1 AIF1 ID|HUgn0000199 DID|LocusLink:199 ORG|Homo sapiens RSQ|REFSEQ:NM_001623 |REFSEQ:NM_004847 |REFSEQ:NM_032955 RPA|REFPROT:NP_001614 |REFPROT:NP_004838 |REFPROT:NP_116573 DBA|XM:NM_001623 |XM:NM_004847 |XM:NM_032955 |NA:AF129756 |NA:Y14768 |NA:BC009474 |NA:D86438 |NA:U19713 |NA:U49392 |NA:U95213 |NA:none PAC|XP:NP_001614 |XP:NP_004838 |XP:NP_116573 SYM|AIF1 NAM|allograft inflammatory factor 1 SYN|IBA1 |AIF-1 |IRT-1 FNC|allograft inflammatory factor 1 isoform 1 |allograft inflammatory factor 1 isoform 2 |allograft inflammatory factor 1 isoform 3 |cell cycle arrest ; GO:0007050 |negative regulation of cell proliferation ; GO:0008285 |response to stress ; GO:0006950 |inflammatory response ; GO:0006954 REAB|This gene is induced by cytokines and interferon. Its protein product is thought |to be involved in negative regulation of growth of vascular smooth muscle cells, |which contributes to the anti-inflammatory response to vessel wall trauma. The gene |expresses three transcripts. CHR|6 PRD|Em:AF129756.17 |interferon gamma responsive transcript |ionized calcium-binding adapter molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76364 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=199[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6278877 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_004847 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_004847 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76364 DBL|UNIGENE:Hs.76364 |OMIM:601833 |SNP:199 MAP|6p21.3 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Aif1; score == 260; expect == 1.1e-70; MEOW:MGgn0000269 (89%) |species == rat; score == 260; expect == 2.1e-70; MEOW:ref|NP_058892.1| (89%) |species == Human; gene == IBA2; score == 194; expect == 1.1e-50; MEOW:HUgn0083543 (66%) } # EOR GENR { RETE|ID 1 HUgn0000200 CHR 1 4 DID 1 LocusLink:200 MAP 1 4q11-q21 NAM 1 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) ORG 1 Homo sapiens SYM 1 AIH2 ID|HUgn0000200 DID|LocusLink:200 ORG|Homo sapiens SYM|AIH2 NAM|amelogenesis imperfecta 2, hypocalcification (autosomal dominant) SYN|ADAI CHR|4 PRD|amelogenesis imperfecta 2, hypoplastic, local (autosomal dominant) DBL|OMIM:104500 MAP|4q11-q21 PHP|Amelogenesis imperfecta-2, hypoplastic local type URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:118751 } # EOR GENR { RETE|ID 1 HUgn0000201 CHR 1 X DID 1 LocusLink:201 MAP 1 Xq22-q28 NAM 1 amelogenesis imperfecta 3, hypomaturation or hypoplastic type ORG 1 Homo sapiens SYM 1 AIH3 ID|HUgn0000201 DID|LocusLink:201 ORG|Homo sapiens SYM|AIH3 NAM|amelogenesis imperfecta 3, hypomaturation or hypoplastic type CHR|X DBL|OMIM:301201 MAP|Xq22-q28 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:131443 } # EOR GENR { RETE|ID 1 HUgn0000202 CHR 1 6 DID 1 LocusLink:202 MAP 1 6q21 NAM 1 absent in melanoma 1 ORG 1 Homo sapiens SYM 1 AIM1 ID|HUgn0000202 DID|LocusLink:202 ORG|Homo sapiens DBA|XM:XM_166300 |NA:U83116 |NA:U83115 |NA:none PAC|XP:XP_166300 SYM|AIM1 NAM|absent in melanoma 1 SYN|ST4 CHR|6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=422550 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=202[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:6268479 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=U83115 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=U83115 DBL|UNIGENE:Hs.422550 |OMIM:601797 |SNP:202 MAP|6q21 ENZ|sugar binding ; GO:0005529 |molecular_function unknown ; GO:0005554 FNC|biological_process unknown ; GO:0000004 |heterophilic cell adhesion ; GO:0007157 CEL|cellular_component unknown ; GO:0008372 HG|species == Mouse; gene == Aim1; score == 1416; expect == 0.0; MEOW:MGgn0000270 (87%) |species == rat; score == 842; expect == 0.0; MEOW:ref|XP_241718.2| (50%) |species == Human; gene == DKFZp667G2110; score == 354; expect == 7.4e-98; MEOW:HUgn0131544 (39%) } # EOR GENR { RETE|ID 1 HUgn0000203 CHR 1 9 DID 1 LocusLink:203 MAP 1 9q34.1 NAM 1 adenylate kinase 1 ORG 1 Homo sapiens SYM 1 AK1 ID|HUgn0000203 DID|LocusLink:203 ORG|Homo sapiens RSQ|REFSEQ:NM_000476 RPA|REFPROT:NP_000467 DBA|XM:NM_000476 |NA:J04809 |NA:BC001116 |NA:BC036803 |NA:none PAC|XP:NP_000467 SYM|AK1 NAM|adenylate kinase 1 FNC|adenylate kinase 1 |ATP metabolism ; GO:0046034 REAB|Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition |within a cell by catalyzing the reversible transfer of phosphate group among adinine |nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, |adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal |muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria |of other tissues including liver and heart. AK1 was identified because of its association |with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation |in the AK1 gene was found to reduce the catalytic activity of the enzyme. Alternative |splicing of the AK1 gene yields two transcripts of 0.9 kb and 2.5 kb. The two transcripts |differ in the 3-prime non-coding region and use two distinct polyadenylation signals. CHR|9 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76240 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=203[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119664 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000476 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000476 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76240 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.76240 |OMIM:103000 |SNP:203 ENZ|EC:2.7.4.3 |adenylate kinase activity ; GO:0004017 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|9q34.1 PHP|Hemolytic anemia due to adenylate kinase deficiency CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Ak1; score == 344; expect == 1.3e-95; MEOW:MGgn0000276 (88%) |species == Human; gene == AK5; score == 236; expect == 5.7e-63; MEOW:HUgn0026289 (58%) |species == Worm; gene == F38B2.4; score == 224; expect == 1.2e-59; MEOW:CEgn0010295 (59%) |species == rat; score == 197; expect == 1.2e-50; MEOW:ref|XP_345320.1| (57%) |species == rat; score == 184; expect == 2.6e-47; MEOW:ref|XP_236788.2| (43%) |species == Mosquito; gene == LOC15199; score == 179; expect == 1.2e-45; MEOW:AGgn0015199 (49%) |species == Fruitfly; gene == Adk1; score == 179; expect == 6.5e-46; MEOW:FBgn0022709 (46%) |species == Weed; gene == At5g26667; score == 163; expect == 4.7e-41; MEOW:ATgn0030369 (46%) |species == Yeast; gene == URA6; score == 163; expect == 1.4e-41; MEOW:SGgn0001507 (45%) |species == rice; score == 158; expect == 2.8e-39; MEOW:gnl|TIGR|8355.m04115 (43%) |species == Weed; gene == At3g60180; score == 154; expect == 2.9e-38; MEOW:ATgn0013165 (43%) |species == rice; score == 152; expect == 3.0e-37; MEOW:gnl|TIGR|8354.m00925 (45%) |species == Mosquito; gene == LOC14384; score == 151; expect == 1.8e-37; MEOW:AGgn0014384 (41%) |species == rice; score == 149; expect == 1.6e-36; MEOW:gnl|TIGR|8352.m00042 (44%) |species == Weed; gene == At4g25280; score == 146; expect == 1.2e-35; MEOW:ATgn0019765 (41%) |species == rice; score == 144; expect == 4.8e-35; MEOW:gnl|TIGR|8351.m05162 (42%) |species == rice; score == 137; expect == 1.0e-32; MEOW:gnl|TIGR|8356.m00076 (35%) } # EOR GENR { RETE|ID 1 HUgn0000204 CHR 1 1 DID 1 LocusLink:204 MAP 1 1p34 NAM 1 adenylate kinase 2 ORG 1 Homo sapiens SYM 1 AK2 ID|HUgn0000204 DID|LocusLink:204 ORG|Homo sapiens RSQ|REFSEQ:NM_001625 |REFSEQ:NM_013411 |REFSEQ:NM_172199 RPA|REFPROT:NP_001616 |REFPROT:NP_037543 |REFPROT:NP_751949 DBA|XM:NM_001625 |XM:NM_013411 |XM:NM_172199 |NA:AB005621 |NA:AB005622 |NA:AY080899 |NA:AY080900 |NA:BC009405 |NA:BC026705 |NA:U39945 |NA:U54645 |NA:U84371 |NA:none |NA:AK023758 PAC|XP:NP_001616 |XP:NP_037543 |XP:NP_751949 SYM|AK2 NAM|adenylate kinase 2 SYN|ADK2 FNC|adenylate kinase 2 isoform a |adenylate kinase 2 isoform b |adenylate kinase 2 isoform c REAB|Adenylate kinases are involved in regulating the adenine nucleotide composition within |a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. |Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in |vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific |and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane |space and may play a role in apoptosis. Transcript variants encoding distinct isoforms |have been identified for this gene. CHR|1 PRD|ATP-AMP transphosphorylase |adenylate kinase, mitochondrial |adenylate kinase isoenzyme 2, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=294008 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=204[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118987 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013411 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013411 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=294008 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=204 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24656 DBL|UNIGENE:Hs.294008 |OMIM:103020 |SNP:204 ENZ|EC:2.7.4.3 |adenylate kinase activity ; GO:0004017 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|1p34 CEL|mitochondrion ; GO:0005739 HG|species == rat; score == 447; expect == 3e-126; MEOW:ref|NP_112248.1| (92%) |species == Mouse; gene == Ak2; score == 424; expect == 1e-119; MEOW:MGgn0000277 (92%) |species == Fruitfly; gene == Adk2; score == 308; expect == 1.7e-84; MEOW:FBgn0022708 (65%) |species == Mosquito; gene == LOC21517; score == 299; expect == 1.0e-81; MEOW:AGgn0021517 (67%) |species == Worm; gene == C29E4.8; score == 294; expect == 2.3e-80; MEOW:CEgn0005588 (62%) |species == Yeast; gene == ADK1; score == 261; expect == 2.1e-70; MEOW:SGgn0002634 (58%) |species == rice; score == 244; expect == 3.0e-65; MEOW:gnl|TIGR|8358.m01770 (53%) |species == Weed; gene == At5g63400; score == 243; expect == 5.1e-65; MEOW:ATgn0023251 (53%) |species == rice; score == 242; expect == 1.5e-64; MEOW:gnl|TIGR|8359.m01249 (53%) |species == Weed; gene == At5g50370; score == 236; expect == 1.1e-62; MEOW:ATgn0023692 (54%) |species == ecoli; score == 204; expect == 3.7e-53; MEOW:ref|NP_415007.1| (53%) |species == Human; gene == AK3L1; score == 174; expect == 3.5e-44; MEOW:HUgn0050808 (44%) |species == Human; gene == AK3; score == 156; expect == 1.1e-38; MEOW:HUgn0000205 (41%) } # EOR GENR { RETE|ID 1 HUgn0000205 CHR 1 1 DID 1 LocusLink:205 MAP 1 9pter-p13 NAM 1 adenylate kinase 3 ORG 1 Homo sapiens SYM 1 AK3 ID|HUgn0000205 DID|LocusLink:205 ORG|Homo sapiens RSQ|REFSEQ:NM_013410 RPA|REFPROT:NP_037542 DBA|XM:NM_013410 |NA:AK025926 |NA:BC016180 |NA:BC040224 |NA:X60673 |NA:none PAC|XP:NP_037542 SYM|AK3 NAM|adenylate kinase 3 FNC|adenylate kinase 3 |nucleobase, nucleoside, nucleotide and nucleic acid metabolism ; GO:0006139 REAB|Adenylate kinases regulate the adenine and guanine nucleotide compositions within |a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. |Three isozymes of adenylate kinase have been identified in vertebrates, adenylate |isozyme 1 (AK1), 2 (AK2) and 3 (AK3). Expression of these isozymes is tissue-specific |and developmentally regulated. AK3 utilizes GTP as a substrate compared to AK1 and |AK2 which use ATP. Sequence alignment suggests that the gene defined by NM_013410.1 |is located on chromosome 1. CHR|1 PRD|GTP:AMP phosphotransferase |Adenylate kinase-3, mitochondrial URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10862 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=205[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118988 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_013410 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_013410 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=10862 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=205 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00230 DBL|UNIGENE:Hs.10862 |OMIM:103030 |SNP:205 ENZ|EC:2.7.4.10 |adenylate kinase activity ; GO:0004017 |GTP binding ; GO:0005525 |ATP binding ; GO:0005524 |kinase activity ; GO:0016301 |transferase activity ; GO:0016740 MAP|9pter-p13 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Ak4; score == 414; expect == 2e-116; MEOW:MGgn0000279 (90%) |species == rat; score == 413; expect == 4e-116; MEOW:ref|NP_058831.1| (89%) |species == Human; gene == LOC283341; score == 339; expect == 1.0e-93; MEOW:HUgn0283341 (94%) |species == Human; gene == AK3L1; score == 279; expect == 7.4e-76; MEOW:HUgn0050808 (59%) |species == Fruitfly; gene == Adk3; score == 219; expect == 1.1e-57; MEOW:FBgn0042094 (48%) |species == Mosquito; gene == LOC10251; score == 215; expect == 1.6e-56; MEOW:AGgn0010251 (50%) |species == Yeast; gene == ADK2; score == 168; expect == 7.1e-43; MEOW:SGgn0000972 (43%) |species == Weed; gene == At5g50370; score == 150; expect == 6.8e-37; MEOW:ATgn0023692 (41%) |species == Weed; gene == At5g63400; score == 149; expect == 1.0e-36; MEOW:ATgn0023251 (39%) |species == Worm; gene == C29E4.8; score == 149; expect == 1.4e-36; MEOW:CEgn0005588 (41%) |species == rice; score == 148; expect == 2.3e-36; MEOW:gnl|TIGR|8358.m01770 (40%) |species == ecoli; score == 147; expect == 4.1e-36; MEOW:ref|NP_415007.1| (40%) |species == rice; score == 145; expect == 1.9e-35; MEOW:gnl|TIGR|8359.m01249 (39%) |species == Yeast; gene == ADK1; score == 143; expect == 1.9e-35; MEOW:SGgn0002634 (36%) |species == Worm; gene == ZK673.2; score == 141; expect == 1.7e-34; MEOW:CEgn0021119 (31%) |species == Weed; gene == At5g35170; score == 131; expect == 2.5e-31; MEOW:ATgn0021586 (38%) } # EOR GENR { RETE|ID 1 HUgn0000206 CHR 1 17 DID 1 LocusLink:206 MAP 1 17q11.2 NAM 1 adenylate kinase 3 pseudogene 1 ORG 1 Homo sapiens SYM 1 AK3P1 ID|HUgn0000206 DID|LocusLink:206 CLA|Pseudogene ORG|Homo sapiens DBA|NA:X60674 SYM|AK3P1 NAM|adenylate kinase 3 pseudogene 1 CHR|17 MAP|17q11.2 DBL|SNP:206 URL|http://www.gdb.org/gdb-bin/genera/accno?GDB:132659 } # EOR GENR { RETE|ID 1 HUgn0000207 CHR 1 14 DID 1 LocusLink:207 MAP 1 14q32.32 NAM 1 v-akt murine thymoma viral oncogene homolog 1 ORG 1 Homo sapiens SYM 1 AKT1 ID|HUgn0000207 DID|LocusLink:207 ORG|Homo sapiens RSQ|REFSEQ:NM_005163 RPA|REFPROT:NP_005154 DBA|XM:NM_005163 |NA:AK122894 |NA:BC000479 |NA:BC001737 |NA:BX648205 |NA:M63167 |NA:X61037 |NA:none PAC|XP:NP_005154 SYM|AKT1 NAM|v-akt murine thymoma viral oncogene homolog 1 SYN|PKB |RAC |PRKBA |RAC-ALPHA FNC|serine/threonine protein kinase |response to heat ; GO:0009408 |nitric oxide biosynthesis ; GO:0006809 |anti-apoptosis ; GO:0006916 |G-protein coupled receptor protein signaling pathway ; GO:0007186 |protein amino acid phosphorylation ; GO:0006468 |signal transduction ; GO:0007165 REAB|The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive |in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 |are activated by platelet-derived growth factor. The activation is rapid and specific, |and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was |shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing |nervous system AKT is a critical mediator of growth factor-induced neuronal survival. |Survival factors can suppress apoptosis in a transcription-independent manner by |activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates |components of the apoptotic machinery. CHR|14 PRD|Murine thymoma viral (v-akt) oncogene homolog-1 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=368861 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=207[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118989 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_005163 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_005163 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=368861 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.368861 |OMIM:164730 |SNP:207 ENZ|EC:2.7.1.37 |receptor signaling protein serine/threonine kinase activity ; GO:0004702 |ATP binding ; GO:0005524 |transferase activity ; GO:0016740 MAP|14q32.32 CEL|nucleus ; GO:0005634 HG|species == Mouse; gene == Akt1; score == 968; expect == 0.0; MEOW:MGgn0000291 (98%) |species == rat; score == 968; expect == 0.0; MEOW:ref|NP_150233.1| (97%) |species == Mouse; gene == Akt2; score == 823; expect == 0.0; MEOW:MGgn0000292 (81%) |species == Human; gene == AKT2; score == 822; expect == 0.0; MEOW:HUgn0000208 (81%) |species == rat; score == 817; expect == 0.0; MEOW:ref|NP_058789.1| (81%) |species == Human; gene == AKT3; score == 810; expect == 0.0; MEOW:HUgn0010000 (82%) |species == Mouse; gene == Akt3; score == 807; expect == 0.0; MEOW:MGgn0000294 (82%) |species == Mosquito; gene == LOC19348; score == 621; expect == 2e-178; MEOW:AGgn0019348 (62%) |species == Fruitfly; gene == Akt1; score == 606; expect == 6e-174; MEOW:FBgn0010379 (61%) |species == Worm; gene == akt-1; score == 561; expect == 2e-160; MEOW:CEgn0000055 (55%) |species == Zfish; gene == prkci; score == 313; expect == 1.7e-85; MEOW:ZFgn0002337 (44%) |species == Yeast; gene == YPK1; score == 301; expect == 1.5e-82; MEOW:SGgn0001609 (47%) |species == Yeast; gene == SCH9; score == 298; expect == 6.4e-81; MEOW:SGgn0001248 (50%) |species == Yeast; gene == YPK2; score == 294; expect == 1.8e-80; MEOW:SGgn0004710 (49%) |species == Yeast; gene == PKC1; score == 290; expect == 4.5e-79; MEOW:SGgn0000201 (42%) |species == chimp; score == 283; expect == 2.1e-78; MEOW:sp|BAC81132|BAC81132 (42%) |species == Weed; gene == At3g08730; score == 282; expect == 2.6e-76; MEOW:ATgn0012560 (40%) |species == Weed; gene == At3g08720; score == 273; expect == 1.6e-73; MEOW:ATgn0012546 (38%) |species == rice; score == 261; expect == 1.3e-69; MEOW:gnl|TIGR|8360.m02002 (40%) |species == Yeast; gene == TPK1; score == 255; expect == 2.6e-68; MEOW:SGgn0003700 (41%) |species == Yeast; gene == TPK2; score == 255; expect == 9.4e-69; MEOW:SGgn0006124 (42%) |species == rice; score == 255; expect == 1.2e-67; MEOW:gnl|TIGR|8355.m04622 (38%) |species == Yeast; gene == TPK3; score == 253; expect == 4.7e-68; MEOW:SGgn0001649 (41%) |species == Weed; gene == At5g62310; score == 229; expect == 3.4e-60; MEOW:ATgn0022335 (36%) |species == Weed; gene == At1g45160; score == 226; expect == 1.7e-59; MEOW:ATgn0005042 (36%) } # EOR GENR { RETE|ID 1 HUgn0000208 CHR 1 19 DID 1 LocusLink:208 MAP 1 19q13.1-q13.2 NAM 1 v-akt murine thymoma viral oncogene homolog 2 ORG 1 Homo sapiens SYM 1 AKT2 ID|HUgn0000208 DID|LocusLink:208 ORG|Homo sapiens RSQ|REFSEQ:NM_001626 RPA|REFPROT:NP_001617 DBA|XM:NM_001626 |NA:AK054771 |NA:AK055779 |NA:BC022779 |NA:M77198 |NA:M95936 |NA:none PAC|XP:NP_001617 SYM|AKT2 NAM|v-akt murine thymoma viral oncogene homolog 2 SYN|PRKBB |PKBBETA |RAC-BETA FNC|v-akt murine thymoma viral oncogene homolog 2 |protein amino acid phosphorylation ; GO:0006468 REAB|AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine |kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was |shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and |2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant |phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein |kinase capable of phophorylating several known proteins. CHR|19 PRD|rac protein kinase beta |Murine thymoma viral (v-akt) homolog-2 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=326445 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=208[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:135660 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001626 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001626 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=326445 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00600 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00562 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00500 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=04510 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00632 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00760 DBL|UNIGENE:Hs.326445 |OMIM:164731 |SNP:208 ENZ|EC:2.7.1.- |ATP binding ; GO:0005524 |protein serine/threonine kinase activity ; GO:0004674 |transferase activity ; GO:0016740 MAP|19q13.1-q13.2 PHP|Ovarian carcinoma HG|species == Mouse; gene == Akt2; score == 966; expect == 0.0; MEOW:MGgn0000292 (98%) |species == rat; score == 961; expect == 0.0; MEOW:ref|NP_058789.1| (97%) |species == Mouse; gene == Akt1; score == 825; expect == 0.0; MEOW:MGgn0000291 (81%) |species == rat; score == 824; expect == 0.0; MEOW:ref|NP_150233.1| (81%) |species == Human; gene == AKT1; score == 822; expect == 0.0; MEOW:HUgn0000207 (81%) |species == Human; gene == AKT3; score == 773; expect == 0.0; MEOW:HUgn0010000 (77%) |species == Mouse; gene == Akt3; score == 773; expect == 0.0; MEOW:MGgn0000294 (77%) |species == Mosquito; gene == LOC19348; score == 634; expect == 0.0; MEOW:AGgn0019348 (63%) |species == Fruitfly; gene == Akt1; score == 617; expect == 2e-177; MEOW:FBgn0010379 (61%) |species == Worm; gene == akt-1; score == 557; expect == 5e-159; MEOW:CEgn0000055 (53%) |species == Zfish; gene == prkci; score == 322; expect == 2.0e-89; MEOW:ZFgn0002337 (48%) |species == Yeast; gene == YPK1; score == 308; expect == 5.0e-84; MEOW:SGgn0001609 (47%) |species == Yeast; gene == YPK2; score == 305; expect == 1.4e-83; MEOW:SGgn0004710 (46%) |species == Yeast; gene == PKC1; score == 304; expect == 1.8e-83; MEOW:SGgn0000201 (42%) |species == Yeast; gene == SCH9; score == 297; expect == 2.4e-80; MEOW:SGgn0001248 (49%) |species == chimp; score == 290; expect == 1.7e-80; MEOW:sp|BAC81132|BAC81132 (42%) |species == Weed; gene == At3g08730; score == 278; expect == 6.3e-75; MEOW:ATgn0012560 (40%) |species == Weed; gene == At3g08720; score == 275; expect == 3.1e-74; MEOW:ATgn0012546 (40%) |species == rice; score == 273; expect == 2.6e-73; MEOW:gnl|TIGR|8360.m02002 (41%) |species == rice; score == 266; expect == 5.4e-71; MEOW:gnl|TIGR|8355.m04622 (36%) |species == Yeast; gene == TPK3; score == 256; expect == 4.2e-69; MEOW:SGgn0001649 (41%) |species == Yeast; gene == TPK1; score == 256; expect == 1.2e-68; MEOW:SGgn0003700 (40%) |species == Yeast; gene == TPK2; score == 255; expect == 9.4e-69; MEOW:SGgn0006124 (40%) |species == Weed; gene == At1g48490; score == 228; expect == 1.2e-59; MEOW:ATgn0006891 (35%) |species == Weed; gene == At5g62310; score == 226; expect == 2.9e-59; MEOW:ATgn0022335 (35%) |species == Weed; gene == At1g45160; score == 223; expect == 1.4e-58; MEOW:ATgn0005042 (35%) |species == rice; score == 220; expect == 3.4e-57; MEOW:gnl|TIGR|8360.m04519 (36%) } # EOR GENR { RETE|ID 1 HUgn0000210 CHR 1 9 DID 1 LocusLink:210 MAP 1 9q34 NAM 1 aminolevulinate, delta-, dehydratase ORG 1 Homo sapiens SYM 1 ALAD ID|HUgn0000210 DID|LocusLink:210 ORG|Homo sapiens RSQ|REFSEQ:NM_000031 RPA|REFPROT:NP_000022 DBA|XM:NM_000031 |NA:AY319481 |NA:X64467 |NA:AU279870 |NA:BC000977 |NA:BX494400 |NA:M13928 |NA:S99468 |NA:S99471 |NA:none PAC|XP:NP_000022 SYM|ALAD NAM|aminolevulinate, delta-, dehydratase SYN|ALADH |MGC5057 FNC|delta-aminolevulinic acid dehydratase |heme biosynthesis ; GO:0006783 REAB|The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation |of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of |heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the |porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. |ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural |gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. CHR|9 PRD|porphobilinogen synthase |aminolevulinate dehydratase URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1227 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=210[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119665 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000031 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000031 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=1227 |http://www.geneclinics.org/query?mim=125270 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00860 DBL|UNIGENE:Hs.1227 |OMIM:125270 |SNP:210 ENZ|EC:4.2.1.24 |porphobilinogen synthase activity ; GO:0004655 |lyase activity ; GO:0016829 MAP|9q34 PHP|Lead poisoning, susceptibility to |Porphyria, acute hepatic HG|species == Mouse; gene == Alad; score == 605; expect == 9e-174; MEOW:MGgn0007218 (88%) |species == rat; score == 599; expect == 6e-172; MEOW:ref|NP_037031.1| (87%) |species == Mosquito; gene == LOC12449; score == 406; expect == 4e-114; MEOW:AGgn0012449 (60%) |species == Fruitfly; gene == CG10335; score == 392; expect == 1e-109; MEOW:FBgn0036271 (61%) |species == Yeast; gene == HEM2; score == 345; expect == 4.3e-96; MEOW:SGgn0003008 (53%) |species == Weed; gene == At1g69740; score == 234; expect == 6.4e-62; MEOW:ATgn0001484 (42%) |species == ecoli; score == 233; expect == 1.0e-62; MEOW:ref|NP_414903.1| (42%) |species == rice; score == 230; expect == 2.0e-60; MEOW:gnl|TIGR|8354.m04598 (41%) } # EOR GENR { RETE|ID 1 HUgn0000211 CHR 1 3 DID 1 LocusLink:211 MAP 1 3p21.1 NAM 1 aminolevulinate, delta-, synthase 1 ORG 1 Homo sapiens SYM 1 ALAS1 ID|HUgn0000211 DID|LocusLink:211 ORG|Homo sapiens RSQ|REFSEQ:NM_000688 RPA|REFPROT:NP_000679 DBA|XM:NM_000688 |NA:AB063322 |NA:BC011798 |NA:X56351 |NA:Y00451 |NA:none PAC|XP:NP_000679 SYM|ALAS1 NAM|aminolevulinate, delta-, synthase 1 SYN|ALAS |ALASH FNC|aminolevulinate, delta-, synthase 1 |heme biosynthesis ; GO:0006783 |biosynthesis ; GO:0009058 CHR|3 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511918 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=211[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:120543 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000688 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000688 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=511918 |http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=211 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.511918 |OMIM:125290 |SNP:211 ENZ|EC:2.3.1.37 |acyltransferase activity ; GO:0008415 |transaminase activity ; GO:0008483 |5-aminolevulinate synthase activity ; GO:0003870 |transferase activity ; GO:0016740 MAP|3p21.1 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Alas1; score == 1144; expect == 0.0; MEOW:MGgn0000296 (91%) |species == Zfish; gene == alas2; score == 716; expect == 0.0; MEOW:ZFgn0001978 (61%) |species == Human; gene == ALAS2; score == 711; expect == 0.0; MEOW:HUgn0000212 (63%) |species == Mosquito; gene == LOC14729; score == 543; expect == 9e-155; MEOW:AGgn0014729 (65%) |species == Fruitfly; gene == Alas; score == 542; expect == 2e-154; MEOW:FBgn0020764 (64%) |species == Yeast; gene == HEM1; score == 366; expect == 2e-101; MEOW:SGgn0002640 (45%) |species == rat; score == 209; expect == 3.0e-54; MEOW:ref|XP_345857.1| (33%) |species == ecoli; score == 198; expect == 5.0e-51; MEOW:ref|NP_418074.1| (34%) |species == rat; score == 171; expect == 2.9e-43; MEOW:ref|XP_346293.1| (65%) |species == Worm; gene == T22G5.5; score == 158; expect == 7.8e-39; MEOW:CEgn0016685 (29%) |species == rice; score == 153; expect == 1.9e-37; MEOW:gnl|TIGR|8350.m06593 (29%) |species == rice; score == 148; expect == 7.9e-36; MEOW:gnl|TIGR|8350.m06594 (31%) |species == rice; score == 141; expect == 7.3e-34; MEOW:gnl|TIGR|8350.m06592 (28%) |species == rice; score == 139; expect == 3.8e-33; MEOW:gnl|TIGR|8358.m02398 (32%) |species == Weed; gene == At5g23670; score == 135; expect == 5.2e-32; MEOW:ATgn0022506 (28%) |species == Weed; gene == At3g48780; score == 133; expect == 2.6e-31; MEOW:ATgn0014905 (27%) } # EOR GENR { RETE|ID 1 HUgn0000212 CHR 1 X DID 1 LocusLink:212 MAP 1 Xp11.21 NAM 1 aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ORG 1 Homo sapiens SYM 1 ALAS2 ID|HUgn0000212 DID|LocusLink:212 ORG|Homo sapiens RSQ|REFSEQ:NM_000032 RPA|REFPROT:NP_000023 DBA|XM:NM_000032 |NA:BC030230 |NA:X56352 |NA:X60364 |NA:none PAC|XP:NP_000023 SYM|ALAS2 NAM|aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) SYN|ASB |ANH1 FNC|aminolevulinate, delta-, synthase 2 |heme biosynthesis ; GO:0006783 REAB|The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme. | The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway. | A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 |and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive |sideroblastic anemia (Hypochromic Anemia). CHR|X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=440455 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=212[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119666 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000032 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000032 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=440455 |http://www.geneclinics.org/query?mim=301300 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260 DBL|UNIGENE:Hs.440455 |OMIM:301300 |SNP:212 |UWCM:119666.html |IXDB:537101 ENZ|EC:2.3.1.37 MAP|Xp11.21 PHP|Anemia, sideroblastic/hypochromic HG|species == Mouse; gene == Alas2; score == 1076; expect == 0.0; MEOW:MGgn0000297 (89%) |species == Zfish; gene == alas2; score == 743; expect == 0.0; MEOW:ZFgn0001978 (64%) |species == Human; gene == ALAS1; score == 711; expect == 0.0; MEOW:HUgn0000211 (63%) |species == Fruitfly; gene == Alas; score == 543; expect == 8e-155; MEOW:FBgn0020764 (56%) |species == Mosquito; gene == LOC14729; score == 539; expect == 1e-153; MEOW:AGgn0014729 (54%) |species == Yeast; gene == HEM1; score == 375; expect == 1e-104; MEOW:SGgn0002640 (43%) |species == rat; score == 251; expect == 1.1e-66; MEOW:ref|XP_346293.1| (91%) |species == rat; score == 227; expect == 1.1e-59; MEOW:ref|XP_345857.1| (36%) |species == ecoli; score == 213; expect == 2.2e-56; MEOW:ref|NP_418074.1| (35%) |species == ecoli; score == 171; expect == 1.6e-43; MEOW:ref|NP_415297.1| (33%) |species == rice; score == 156; expect == 5.9e-38; MEOW:gnl|TIGR|8350.m06594 (31%) |species == rice; score == 154; expect == 1.1e-37; MEOW:gnl|TIGR|8350.m06593 (31%) |species == Worm; gene == T22G5.5; score == 151; expect == 5.9e-37; MEOW:CEgn0016685 (27%) |species == rice; score == 150; expect == 1.6e-36; MEOW:gnl|TIGR|8350.m06592 (31%) |species == Weed; gene == At5g04620; score == 147; expect == 1.6e-35; MEOW:ATgn0024746 (31%) |species == Weed; gene == At3g48780; score == 145; expect == 5.0e-35; MEOW:ATgn0014905 (29%) |species == rice; score == 145; expect == 1.4e-34; MEOW:gnl|TIGR|8358.m02398 (32%) |species == Weed; gene == At5g23670; score == 144; expect == 1.4e-34; MEOW:ATgn0022506 (29%) |species == rice; score == 137; expect == 1.0e-32; MEOW:gnl|TIGR|8362.m03353 (30%) |species == Weed; gene == At3g48790; score == 134; expect == 1.9e-31; MEOW:ATgn0014906 (30%) } # EOR GENR { RETE|ID 1 HUgn0000213 CHR 1 4 DID 1 LocusLink:213 MAP 1 4q11-q13 NAM 1 albumin ORG 1 Homo sapiens SYM 1 ALB ID|HUgn0000213 DID|LocusLink:213 ORG|Homo sapiens RSQ|REFSEQ:NM_000477 RPA|REFPROT:NP_000468 DBA|XM:NM_000477 |NA:M12523 |NA:M13075 |NA:S69192 |NA:S70799 |NA:AF190168 |NA:AF542069 |NA:BC014308 |NA:BC034023 |NA:BC034026 |NA:BC035969 |NA:BC036003 |NA:BC039235 |NA:BC041789 |NA:V00494 |NA:V00495 |NA:none |NA:A06977 PAC|XP:NP_000468 SYM|ALB NAM|albumin SYN|PRO0883 FNC|albumin precursor REAB|Albumin is a soluble, monomeric protein which comprises about one-half of the blood |serum protein. Albumin functions primarily as a carrier protein for steroids, fatty |acids, and thyroid hormones and plays a role in stabilizing extracellular fluid |volume. Mutations in this gene on chromosome 4 result in various anomalous proteins. |Albumin is a globular unglycosylated serum protein of molecular weight 65,000. The |human albumin gene is 16,961 nucleotides long from the putative 'cap' site to the |first poly(A) addition site. It is split into 15 exons which are symmetrically placed |within the 3 domains that are thought to have arisen by triplication of a single |primordial domain. Albumin is synthesized in the liver as preproalbumin which has |an N-terminal peptide that is removed before the nascent protein is released from |the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in |the Golgi vesicles to produce the secreted albumin. CHR|4 PRD|PRO0883 protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=418167 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=213[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118990 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000477 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000477 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=418167 |http://www.albumin.org DBL|UNIGENE:Hs.418167 |OMIM:103600 |SNP:213 MAP|4q11-q13 PHP|Analbuminemia |Dysalbuminemic hyperthyroxinemia |Dysalbuminemic hyperzincemia HG|species == rat; score == 976; expect == 0.0; MEOW:ref|NP_599153.1| (73%) |species == Mouse; gene == Alb1; score == 957; expect == 0.0; MEOW:MGgn0000298 (72%) |species == chimp; score == 502; expect == 3e-142; MEOW:sp|Q28789|FETA_PANTR (40%) |species == Human; gene == AFP; score == 500; expect == 8e-142; MEOW:HUgn0000174 (40%) |species == Human; gene == AFM; score == 412; expect == 2e-115; MEOW:HUgn0000173 (35%) } # EOR GENR { RETE|ID 1 HUgn0000214 CHR 1 3 DID 1 LocusLink:214 MAP 1 3q13.1 NAM 1 activated leukocyte cell adhesion molecule ORG 1 Homo sapiens SYM 1 ALCAM ID|HUgn0000214 DID|LocusLink:214 ORG|Homo sapiens RSQ|REFSEQ:NM_001627 RPA|REFPROT:NP_001618 DBA|XM:NM_001627 |NA:AK054632 |NA:AK127617 |NA:AL833702 |NA:L38608 |NA:Y10183 |NA:none PAC|XP:NP_001618 SYM|ALCAM NAM|activated leukocyte cell adhesion molecule SYN|MEMD |CD166 FNC|activated leukocyte cell adhesion molecule |cell adhesion ; GO:0007155 |signal transduction ; GO:0007165 |antimicrobial humoral response (sensu Vertebrata) ; GO:0019735 CHR|3 PRD|activated leucocyte cell adhesion molecule |activated leukocyte-cell adhesion molecule URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=10247 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=214[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:5659998 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001627 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001627 DBL|UNIGENE:Hs.10247 |OMIM:601662 |SNP:214 |PROW:1844846226 MAP|3q13.1 ENZ|receptor binding ; GO:0005102 |cell adhesion molecule activity ; GO:0005194 CEL|integral to plasma membrane ; GO:0005887 |membrane fraction ; GO:0005624 HG|species == rat; score == 1042; expect == 0.0; MEOW:ref|NP_113941.1| (92%) |species == Mouse; gene == Alcam; score == 1038; expect == 0.0; MEOW:MGgn0000299 (92%) |species == Zfish; gene == alcam; score == 343; expect == 7.8e-96; MEOW:ZFgn0000302 (37%) |species == Human; gene == MCAM; score == 157; expect == 1.2e-38; MEOW:HUgn0004162 (24%) |species == Human; gene == LU; score == 151; expect == 8.6e-37; MEOW:HUgn0004059 (29%) } # EOR GENR { RETE|ID 1 HUgn0000215 CHR 1 X DID 1 LocusLink:215 MAP 1 Xq28 NAM 1 ATP-binding cassette, sub-family D (ALD), member 1 ORG 1 Homo sapiens SYM 1 ABCD1 ID|HUgn0000215 DID|LocusLink:215 ORG|Homo sapiens RSQ|REFSEQ:NM_000033 RPA|REFPROT:NP_000024 DBA|XM:NM_000033 |NA:Z31348 |NA:BC015541 |NA:BC025358 |NA:Z21876 |NA:none PAC|XP:NP_000024 SYM|ABCD1 NAM|ATP-binding cassette, sub-family D (ALD), member 1 SYN|ALD |AMN |ALDP |ABC42 FNC|ATP-binding cassette, sub-family D (ALD), member 1 |peroxisome organization and biogenesis ; GO:0007031 |transport ; GO:0006810 |peroxisomal membrane transport ; GO:0015919 REAB|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette |(ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular |membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, |MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which |is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. |All known peroxisomal ABC transporters are half transporters which require a partner |half transporter molecule to form a functional homodimeric or heterodimeric transporter. |This peroxisomal membrane protein is likely involved in the peroxisomal transport |or catabolism of very long chain fatty acids. Defects in this gene have been identified |as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited |demyelinating disorder of the nervous system. CHR|X PRD|adrenoleukodystrophy |adrenoleukodystrophy protein URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=159546 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=215[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118991 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000033 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000033 |http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=mono_001.section.152+OR+mono_001.section.204+OR+mono_001.table.145+OR+mono_001.table.153+OR+mono_001.table.155 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=159546 |http://www.geneclinics.org/query?mim=300100 |http://www.geneclinics.org/query?mim=300371 |http://www.ncbi.nlm.nih.gov/disease/ALD.html |http://www.humanabc.org |http://www.x-ald.nl/ DBL|UNIGENE:Hs.159546 |OMIM:300371 |SNP:215 |UWCM:118991.html |IXDB:523501 MAP|Xq28 PHP|Adrenoleukodystrophy |Adrenomyeloneuropathy ENZ|nucleotide binding ; GO:0000166 |ATP binding ; GO:0005524 |ATP-binding cassette (ABC) transporter activity ; GO:0004009 |transporter activity ; GO:0005215 CEL|integral to peroxisomal membrane ; GO:0005779 |peroxisome ; GO:0005777 |integral to membrane ; GO:0016021 HG|species == Mouse; gene == Abcd1; score == 1251; expect == 0.0; MEOW:MGgn0000020 (92%) |species == rat; score == 1249; expect == 0.0; MEOW:ref|XP_343841.1| (91%) |species == Human; gene == ABCD2; score == 937; expect == 0.0; MEOW:HUgn0000225 (69%) |species == Worm; gene == T02D1.5; score == 732; expect == 0.0; MEOW:CEgn0015206 (56%) |species == Mosquito; gene == LOC19853; score == 679; expect == 0.0; MEOW:AGgn0019853 (50%) |species == Fruitfly; gene == CG2316; score == 571; expect == 3e-163; MEOW:FBgn0039890 (53%) |species == Yeast; gene == PXA1; score == 336; expect == 3.9e-92; MEOW:SGgn0006068 (31%) |species == Weed; gene == At4g39850; score == 320; expect == 1.9e-87; MEOW:ATgn0017729 (33%) |species == rice; score == 309; expect == 9.4e-84; MEOW:gnl|TIGR|8350.m06906 (31%) |species == Yeast; gene == PXA2; score == 302; expect == 1.4e-82; MEOW:SGgn0001671 (31%) |species == rice; score == 296; expect == 7.2e-80; MEOW:gnl|TIGR|8353.m00071 (31%) } # EOR GENR { RETE|ID 1 HUgn0000216 CHR 1 9 DID 1 LocusLink:216 MAP 1 9q21.13 NAM 1 aldehyde dehydrogenase 1 family, member A1 ORG 1 Homo sapiens SYM 1 ALDH1A1 ID|HUgn0000216 DID|LocusLink:216 ORG|Homo sapiens RSQ|REFSEQ:NM_000689 RPA|REFPROT:NP_000680 DBA|XM:NM_000689 |NA:M31994 |NA:AF003341 |NA:AK000118 |NA:AK026641 |NA:BC001505 |NA:BG773210 |NA:BT006921 |NA:K03000 |NA:M26761 |NA:none PAC|XP:NP_000680 SYM|ALDH1A1 NAM|aldehyde dehydrogenase 1 family, member A1 SYN|ALDC |ALDH1 |PUMB1 |ALDH11 |RALDH1 |ALDH-E1 |MGC2318 FNC|aldehyde dehydrogenase 1A1 |aldehyde metabolism ; GO:0006081 REAB|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde |dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. |Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished |by their electrophoretic mobilities, kinetic properties, and subcellular localizations. |Most Caucasians have two major isozymes, while approximately 50% of Orientals have |only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher |frequency of acute alcohol intoxication among Orientals than among Caucasians could |be related to the absence of the mitochondrial isozyme. This gene encodes a cytosolic |isoform, which has a high affinity for aldehydes. CHR|9 PRD|ALDH class 1 |retinal dehydrogenase 1 |acetaldehyde dehydrogenase 1 |aldehyde dehydrogenase 1, soluble |aldehyde dehydrogenase, liver cytosolic URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=76392 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=216[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119667 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000689 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000689 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=76392 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.76392 |OMIM:100640 |SNP:216 ENZ|EC:1.2.1.3 |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |androgen binding ; GO:0005497 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|9q21.13 CEL|cytosol ; GO:0005829 HG|species == Mouse; gene == Aldh1a1; score == 905; expect == 0.0; MEOW:MGgn0013500 (86%) |species == rat; score == 900; expect == 0.0; MEOW:ref|NP_071852.2| (86%) |species == Mouse; gene == Aldh1a7; score == 865; expect == 0.0; MEOW:MGgn0000314 (84%) |species == rat; score == 852; expect == 0.0; MEOW:ref|NP_058968.14| (82%) |species == Human; gene == ALDH1A2; score == 759; expect == 0.0; MEOW:HUgn0008854 (73%) |species == rat; score == 755; expect == 0.0; MEOW:ref|NP_446348.1| (73%) |species == Mouse; gene == Aldh1a2; score == 754; expect == 0.0; MEOW:MGgn0009723 (73%) |species == Zfish; gene == aldh1a2; score == 739; expect == 0.0; MEOW:ZFgn0002332 (72%) |species == Human; gene == ALDH1A3; score == 734; expect == 0.0; MEOW:HUgn0000220 (70%) |species == rat; score == 731; expect == 0.0; MEOW:ref|NP_695212.1| (70%) |species == Mouse; gene == Aldh1a3; score == 728; expect == 0.0; MEOW:MGgn0014335 (70%) |species == Human; gene == ALDH2; score == 702; expect == 0.0; MEOW:HUgn0000217 (68%) |species == Human; gene == ALDH1B1; score == 671; expect == 0.0; MEOW:HUgn0000219 (64%) |species == Fruitfly; gene == CG3752; score == 665; expect == 0.0; MEOW:FBgn0032114 (65%) |species == Mosquito; score == 635; expect == 0.0; MEOW:AGgn0020207 (62%) |species == Mosquito; gene == LOC13314; score == 594; expect == 2e-170; MEOW:AGgn0013314 (61%) |species == Worm; gene == alh-1; score == 578; expect == 2e-165; MEOW:CEgn0030742 (65%) |species == Weed; gene == At3g48000; score == 575; expect == 2e-164; MEOW:ATgn0014377 (56%) |species == Mosquito; gene == LOC11393; score == 569; expect == 8e-163; MEOW:AGgn0011393 (58%) |species == Fruitfly; gene == CG31075; score == 565; expect == 1e-161; MEOW:FBgn0051075 (58%) |species == Weed; gene == At1g23800; score == 558; expect == 2e-159; MEOW:ATgn0006653 (57%) |species == rice; score == 523; expect == 2e-148; MEOW:gnl|TIGR|8354.m03621 (53%) |species == rice; score == 522; expect == 4e-148; MEOW:gnl|TIGR|8351.m04744 (51%) |species == rice; score == 504; expect == 1e-142; MEOW:gnl|TIGR|8350.m03745 (50%) |species == Weed; gene == At3g24503; score == 500; expect == 8e-142; MEOW:ATgn0029241 (51%) |species == Yeast; gene == ALD4; score == 462; expect == 2e-130; MEOW:SGgn0005901 (49%) |species == Yeast; gene == ALD5; score == 460; expect == 2e-130; MEOW:SGgn0000875 (48%) |species == Yeast; gene == ALD2; score == 447; expect == 2e-126; MEOW:SGgn0004780 (47%) |species == rice; score == 443; expect == 2e-124; MEOW:gnl|TIGR|8350.m03744 (47%) |species == Yeast; gene == ALD3; score == 441; expect == 2e-124; MEOW:SGgn0004779 (46%) |species == Yeast; gene == ALD6; score == 439; expect == 2e-123; MEOW:SGgn0005982 (46%) |species == ecoli; score == 369; expect == 3e-103; MEOW:ref|NP_414846.1| (39%) |species == ecoli; score == 365; expect == 4e-102; MEOW:ref|NP_415816.1| (39%) |species == ecoli; score == 345; expect == 4.0e-96; MEOW:ref|NP_415903.1| (38%) |species == ecoli; score == 330; expect == 1.3e-91; MEOW:ref|NP_418045.1| (39%) |species == ecoli; score == 307; expect == 1.2e-84; MEOW:ref|NP_417147.1| (36%) |species == ecoli; score == 303; expect == 1.7e-83; MEOW:ref|NP_415961.1| (37%) } # EOR GENR { RETE|ID 1 HUgn0000217 CHR 1 12 DID 1 LocusLink:217 MAP 1 12q24.2 NAM 1 aldehyde dehydrogenase 2 family (mitochondrial) ORG 1 Homo sapiens SYM 1 ALDH2 ID|HUgn0000217 DID|LocusLink:217 ORG|Homo sapiens RSQ|REFSEQ:NM_000690 RPA|REFPROT:NP_000681 DBA|XM:NM_000690 |NA:AF164120 |NA:M20444 |NA:M20456 |NA:BC002967 |NA:K03001 |NA:M26760 |NA:M54931 |NA:X05409 |NA:Y00109 |NA:none PAC|XP:NP_000681 SYM|ALDH2 NAM|aldehyde dehydrogenase 2 family (mitochondrial) SYN|ALDM |ALDHI |ALDH-E2 |MGC1806 FNC|mitochondrial aldehyde dehydrogenase 2 precursor |alcohol metabolism ; GO:0006066 |carbohydrate metabolism ; GO:0005975 REAB|This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase |is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major |liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished |by their electrophoretic mobilities, kinetic properties, and subcellular localizations. |Most Caucasians have two major isozymes, while approximately 50% of Orientals have |only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher |frequency of acute alcohol intoxication among Orientals than among Caucasians could |be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial |isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial |matrix. CHR|12 PRD|ALDH class 2 |liver mitochondrial ALDH |acetaldehyde dehydrogenase 2 |nucleus-encoded mitochondrial aldehyde dehydrogenase 2 DBL|OMIM:100650 |SNP:217 |UWCM:119668.html ENZ|EC:1.2.1.3 |aldehyde dehydrogenase (NAD) activity ; GO:0004029 |aldehyde dehydrogenase [NAD(P)] activity ; GO:0004030 |electron transporter activity ; GO:0005489 |oxidoreductase activity ; GO:0016491 MAP|12q24.2 PHP|?Fetal alcohol syndrome |Alcohol intolerance, acute URL|http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=217[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:119668 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000690 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000690 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 |http://www.pharmgkb.org/do/serve?objCls=Gene&objId=PA24696 CEL|mitochondrion ; GO:0005739 HG|species == Mouse; gene == Aldh2; score == 961; expect == 0.0; MEOW:MGgn0000309 (94%) |species == Human; gene == ALDH1B1; score == 746; expect == 0.0; MEOW:HUgn0000219 (72%) |species == Fruitfly; gene == CG3752; score == 735; expect == 0.0; MEOW:FBgn0032114 (71%) |species == rat; score == 710; expect == 0.0; MEOW:ref|NP_446348.1| (67%) |species == Human; gene == ALDH1A2; score == 709; expect == 0.0; MEOW:HUgn0008854 (67%) |species == Human; gene == ALDH1A1; score == 702; expect == 0.0; MEOW:HUgn0000216 (68%) |species == Mosquito; score == 697; expect == 0.0; MEOW:AGgn0020207 (71%) |species == Zfish; gene == aldh1a2; score == 680; expect == 0.0; MEOW:ZFgn0002332 (67%) |species == rat; score == 678; expect == 0.0; MEOW:ref|NP_695212.1| (66%) |species == Human; gene == ALDH1A3; score == 676; expect == 0.0; MEOW:HUgn0000220 (66%) |species == rat; score == 672; expect == 0.0; MEOW:ref|NP_071852.2| (67%) |species == rat; score == 653; expect == 0.0; MEOW:ref|NP_058968.14| (65%) |species == Worm; gene == alh-1; score == 620; expect == 3e-178; MEOW:CEgn0030742 (70%) |species == Weed; gene == At3g48000; score == 613; expect == 7e-176; MEOW:ATgn0014377 (62%) |species == rat; score == 613; expect == 7e-176; MEOW:ref|XP_346440.1| (96%) |species == Weed; gene == At1g23800; score == 599; expect == 2e-171; MEOW:ATgn0006653 (61%) |species == Mosquito; gene == LOC13314; score == 585; expect == 2e-167; MEOW:AGgn0013314 (59%) |species == Mosquito; gene == LOC11393; score == 562; expect == 8e-161; MEOW:AGgn0011393 (61%) |species == rice; score == 555; expect == 3e-158; MEOW:gnl|TIGR|8351.m04744 (58%) |species == rice; score == 513; expect == 2e-145; MEOW:gnl|TIGR|8350.m03745 (54%) |species == rice; score == 509; expect == 2e-144; MEOW:gnl|TIGR|8354.m03621 (54%) |species == Weed; gene == At3g24503; score == 497; expect == 7e-141; MEOW:ATgn0029241 (54%) |species == Yeast; gene == ALD4; score == 488; expect == 4e-138; MEOW:SGgn0005901 (51%) |species == rice; score == 448; expect == 4e-126; MEOW:gnl|TIGR|8350.m03744 (48%) |species == Yeast; gene == ALD5; score == 447; expect == 2e-126; MEOW:SGgn0000875 (46%) |species == Yeast; gene == ALD6; score == 444; expect == 5e-125; MEOW:SGgn0005982 (47%) |species == Yeast; gene == ALD2; score == 412; expect == 7e-116; MEOW:SGgn0004780 (48%) |species == Yeast; gene == ALD3; score == 405; expect == 8e-114; MEOW:SGgn0004779 (47%) |species == ecoli; score == 374; expect == 5e-104; MEOW:ref|NP_414846.1| (42%) |species == ecoli; score == 368; expect == 6e-103; MEOW:ref|NP_415816.1| (42%) |species == ecoli; score == 354; expect == 1.2e-98; MEOW:ref|NP_418045.1| (42%) |species == ecoli; score == 325; expect == 4.4e-90; MEOW:ref|NP_415903.1| (39%) } # EOR GENR { RETE|ID 1 HUgn0000218 CHR 1 17 DID 1 LocusLink:218 MAP 1 17p11.2 NAM 1 aldehyde dehydrogenase 3 family, memberA1 ORG 1 Homo sapiens SYM 1 ALDH3A1 ID|HUgn0000218 DID|LocusLink:218 ORG|Homo sapiens RSQ|REFSEQ:NM_000691 RPA|REFPROT:NP_000682 DBA|XM:NM_000691 |NA:AK091272 |NA:AK093755 |NA:AK093877 |NA:BC004102 |NA:BC004370 |NA:BC008892 |NA:BC021194 |NA:BT007102 |NA:M74542 |NA:M77477 |NA:S61044 |NA:none PAC|XP:NP_000682 SYM|ALDH3A1 NAM|aldehyde dehydrogenase 3 family, memberA1 SYN|ALDH3 |ALDHIII |MGC10406 FNC|aldehyde dehydrogenase 3 family, member A1 |aldehyde metabolism ; GO:0006081 |carbohydrate metabolism ; GO:0005975 REAB|Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They |are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism |of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. |The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially |oxidizes aromatic aldehyde substrates. The gene is located within the Smith-Magenis |syndrome region on chromosome 17. CHR|17 PRD|ALDH, stomach type |acetaldehyde dehydrogenase |aldehyde dehydrogenase, dimeric NADP-preferring URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=575 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=218[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:118992 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000691 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000691 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=575 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.575 |OMIM:100660 |SNP:218 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase activity ; GO:0004028 |electron transporter activity ; GO:0005489 MAP|17p11.2 CEL|cytosol ; GO:0005829 HG|species == rat; score == 764; expect == 0.0; MEOW:ref|NP_114178.1| (81%) |species == Mouse; gene == Aldh3a1; score == 752; expect == 0.0; MEOW:MGgn0013501 (80%) |species == Human; gene == ALDH3A2; score == 618; expect == 3e-177; MEOW:HUgn0000224 (67%) |species == Human; gene == ALDH3B1; score == 502; expect == 2e-142; MEOW:HUgn0000221 (53%) |species == Fruitfly; gene == Aldh-III; score == 471; expect == 3e-133; MEOW:FBgn0010548 (50%) |species == Mosquito; score == 460; expect == 6e-130; MEOW:AGgn0025470 (51%) |species == Worm; gene == alh-4; score == 448; expect == 4e-126; MEOW:CEgn0030745 (50%) |species == Zfish; gene == aldh3d1; score == 441; expect == 5e-124; MEOW:ZFgn0007310 (47%) |species == Weed; gene == At1g44170; score == 401; expect == 5e-112; MEOW:ATgn0004094 (46%) |species == Mosquito; gene == LOC9992; score == 400; expect == 1e-111; MEOW:AGgn0009992 (42%) |species == Mosquito; score == 392; expect == 2e-109; MEOW:AGgn0025842 (50%) |species == rice; score == 379; expect == 5e-105; MEOW:gnl|TIGR|8358.m00746 (45%) |species == Weed; gene == At4g34240; score == 367; expect == 7e-102; MEOW:ATgn0019160 (44%) |species == rice; score == 351; expect == 1.2e-96; MEOW:gnl|TIGR|8359.m00680 (47%) |species == rice; score == 316; expect == 4.3e-86; MEOW:gnl|TIGR|8352.m04226 (41%) |species == Yeast; gene == YMR110C; score == 243; expect == 4.5e-65; MEOW:SGgn0004716 (34%) |species == ecoli; score == 151; expect == 1.3e-37; MEOW:ref|NP_415933.1| (32%) |species == ecoli; score == 143; expect == 2.0e-35; MEOW:ref|NP_414846.1| (29%) |species == ecoli; score == 143; expect == 2.0e-35; MEOW:ref|NP_415816.1| (32%) |species == ecoli; score == 142; expect == 5.9e-35; MEOW:ref|NP_415903.1| (29%) |species == ecoli; score == 136; expect == 3.2e-33; MEOW:ref|NP_418045.1| (31%) |species == ecoli; score == 134; expect == 1.2e-32; MEOW:ref|NP_417147.1| (28%) } # EOR GENR { RETE|ID 1 HUgn0000219 CHR 1 9 DID 1 LocusLink:219 MAP 1 9p11.1 NAM 1 aldehyde dehydrogenase 1 family, member B1 ORG 1 Homo sapiens SYM 1 ALDH1B1 ID|HUgn0000219 DID|LocusLink:219 ORG|Homo sapiens RSQ|REFSEQ:NM_000692 RPA|REFPROT:NP_000683 DBA|XM:NM_000692 |NA:AL135785 |NA:M63967 |NA:BC001619 |NA:BE889810 |NA:BT007418 |NA:none PAC|XP:NP_000683 SYM|ALDH1B1 NAM|aldehyde dehydrogenase 1 family, member B1 SYN|ALDH5 |ALDHX |MGC2230 FNC|aldehyde dehydrogenase 1B1 precursor REAB|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde |dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. |This gene does not contain introns in the coding sequence. The variation of this |locus may affect the development of alcohol-related problems. CHR|9 PRD|ALDH class 2 |aldehyde dehydrogenase 5 |acetaldehyde dehydrogenase 5 |mitochondrial aldehyde dehydrogenase X URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=436219 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=219[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:128788 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000692 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000692 |http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=436219 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00310 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00620 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00071 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00120 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00561 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00631 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00053 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00280 DBL|UNIGENE:Hs.436219 |OMIM:100670 |SNP:219 ENZ|EC:1.2.1.3 MAP|9p11.1 HG|species == Mouse; gene == Aldh1b1; score == 948; expect == 0.0; MEOW:MGgn0021283 (94%) |species == Human; gene == ALDH2; score == 746; expect == 0.0; MEOW:HUgn0000217 (72%) |species == Human; gene == ALDH1A2; score == 706; expect == 0.0; MEOW:HUgn0008854 (66%) |species == Fruitfly; gene == CG3752; score == 704; expect == 0.0; MEOW:FBgn0032114 (66%) |species == rat; score == 703; expect == 0.0; MEOW:ref|NP_446348.1| (66%) |species == Zfish; gene == aldh1a2; score == 681; expect == 0.0; MEOW:ZFgn0002332 (68%) |species == Human; gene == ALDH1A1; score == 671; expect == 0.0; MEOW:HUgn0000216 (64%) |species == Human; gene == ALDH1A3; score == 661; expect == 0.0; MEOW:HUgn0000220 (64%) |species == rat; score == 658; expect == 0.0; MEOW:ref|NP_695212.1| (63%) |species == rat; score == 657; expect == 0.0; MEOW:ref|NP_071852.2| (65%) |species == Mosquito; score == 645; expect == 0.0; MEOW:AGgn0020207 (64%) |species == rat; score == 618; expect == 3e-177; MEOW:ref|NP_058968.14| (64%) |species == rat; score == 595; expect == 2e-170; MEOW:ref|XP_216405.2| (94%) |species == Worm; gene == alh-1; score == 588; expect == 2e-168; MEOW:CEgn0030742 (67%) |species == Mosquito; gene == LOC13314; score == 586; expect == 8e-168; MEOW:AGgn0013314 (58%) |species == Weed; gene == At3g48000; score == 581; expect == 3e-166; MEOW:ATgn0014377 (56%) |species == Weed; gene == At1g23800; score == 573; expect == 1e-163; MEOW:ATgn0006653 (57%) |species == Mosquito; gene == LOC11393; score == 548; expect == 1e-156; MEOW:AGgn0011393 (59%) |species == rice; score == 526; expect == 2e-149; MEOW:gnl|TIGR|8351.m04744 (53%) |species == rice; score == 504; expect == 5e-143; MEOW:gnl|TIGR|8354.m03621 (55%) |species == Yeast; gene == ALD4; score == 491; expect == 3e-139; MEOW:SGgn0005901 (50%) |species == Weed; gene == At3g24503; score == 482; expect == 2e-136; MEOW:ATgn0029241 (51%) |species == rice; score == 468; expect == 3e-132; MEOW:gnl|TIGR|8350.m03745 (52%) |species == Yeast; gene == ALD5; score == 440; expect == 1e-123; MEOW:SGgn0000875 (46%) |species == Yeast; gene == ALD6; score == 430; expect == 1e-120; MEOW:SGgn0005982 (47%) |species == rice; score == 424; expect == 4e-119; MEOW:gnl|TIGR|8350.m03744 (46%) |species == Yeast; gene == ALD2; score == 404; expect == 8e-113; MEOW:SGgn0004780 (44%) |species == Yeast; gene == ALD3; score == 399; expect == 3e-111; MEOW:SGgn0004779 (43%) |species == ecoli; score == 368; expect == 5e-103; MEOW:ref|NP_415816.1| (42%) |species == ecoli; score == 355; expect == 2.4e-98; MEOW:ref|NP_414846.1| (40%) |species == ecoli; score == 333; expect == 2.1e-92; MEOW:ref|NP_418045.1| (41%) |species == ecoli; score == 329; expect == 2.5e-90; MEOW:ref|NP_415903.1| (39%) |species == ecoli; score == 300; expect == 1.6e-81; MEOW:ref|NP_417147.1| (36%) } # EOR GENR { RETE|ID 1 HUgn0000220 CHR 1 15 DID 1 LocusLink:220 MAP 1 15q26.3 NAM 1 aldehyde dehydrogenase 1 family, member A3 ORG 1 Homo sapiens SYM 1 ALDH1A3 ID|HUgn0000220 DID|LocusLink:220 ORG|Homo sapiens RSQ|REFSEQ:NM_000693 RPA|REFPROT:NP_000684 DBA|XM:NM_000693 |NA:AL110109 |NA:BC009245 |NA:BX538027 |NA:U07919 |NA:none PAC|XP:NP_000684 SYM|ALDH1A3 NAM|aldehyde dehydrogenase 1 family, member A3 SYN|ALDH6 |RALDH3 |ALDH1A6 FNC|aldehyde dehydrogenase 1A3 |alcohol metabolism ; GO:0006066 |lipid metabolism ; GO:0006629 REAB|Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification |of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene for |this human isozyme spans about 37 kb and consists of 13 exons. It is expressed at |low levels in many tissues and at higher levels in salivary gland, stomach and kidney. |The major transcript is approximately 3.5 kb; however, there is a less abundant |transcript that is smaller by 111 bp in the 3' non-coding region and uses an alternative |polyadenylation signal. The significance of alternative splicing of this gene is |currently unclear. CHR|15 PRD|aldehyde dehydrogenase 6 URL|http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75746 |http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=220[loc]&TAXID=9606 |http://www.gdb.org/gdb-bin/genera/accno?GDB:364103 |http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000693 |http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_000693 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360 |http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00010 DBL|UNIGENE:Hs.75746 |OMIM:600463 |SNP:220 ENZ|EC:1.2.1.5 |aldehyde dehydrogenase activity ; GO:0004028 MAP|15q26.3 HG|species == rat; score == 989; expect == 0.0; MEOW:ref|NP_695212.1| (93%) |species == Mouse; gene == Aldh1a3; score == 986; expect == 0.0; MEOW:MGgn0014335 (93%) |species == Human; gene == ALDH1A2; score == 747; expect == 0.0; MEOW:HUgn0008854 (71%) |species == Human; gene == ALDH1A1; score == 734; expect == 0.0; MEOW:HUgn0000216 (70%) |species == Zfish; gene == aldh1a2; score == 716; expect == 0.0; MEOW:ZFgn0002332 (69%) |species == Human; gene == ALDH2; score == 676; expect == 0.0; MEOW:HUgn0000217 (66%) |species == Human; gene == ALDH1B1; score == 661; expect == 0.0; MEOW:HUgn0000219 (64%) |species == Fruitfly; gene == CG3752; score == 642; expect == 0.0; MEOW:FBgn0032114 (61%) |species == Mosquito; score == 615; expect == 1e-176; MEOW:AGgn0020207 (60%) |species == Mosquito; g