This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter.[3]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000288705 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS (February 1992). "A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini". J. Biol. Chem. 267 (5): 3257–61. doi:10.1016/S0021-9258(19)50724-4. PMID 1339448.
^Mackenzie PI, Owens IS, Burchell B, Bock KW, Bairoch A, Bélanger A, Fournel-Gigleux S, Green M, Hum DW, Iyanagi T, Lancet D, Louisot P, Magdalou J, Chowdhury JR, Ritter JK, Schachter H, Tephly TR, Tipton KF, Nebert DW (August 1997). "The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence". Pharmacogenetics. 7 (4): 255–69. doi:10.1097/00008571-199708000-00001. PMID 9295054.
Further readingedit
Yea SS, Lee SS, Kim WY, et al. (2008). "Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population". Ther Drug Monit. 30 (1): 23–34. doi:10.1097/FTD.0b013e3181633824. PMID 18223459. S2CID 34396409.
Sanna S, Busonero F, Maschio A, et al. (2009). "Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia". Hum. Mol. Genet. 18 (14): 2711–8. doi:10.1093/hmg/ddp203. PMC2701337. PMID 19419973.
Zhang T, Haws P, Wu Q (2004). "Multiple Variable First Exons: A Mechanism for Cell- and Tissue-Specific Gene Regulation". Genome Res. 14 (1): 79–89. doi:10.1101/gr.1225204. PMC314283. PMID 14672974.
King CD, Rios GR, Green MD, Tephly TR (2000). "UDP-glucuronosyltransferases". Curr. Drug Metab. 1 (2): 143–61. doi:10.2174/1389200003339171. PMID 11465080.
van Es HH, Bout A, Liu J, et al. (1993). "Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37". Cytogenet. Cell Genet. 63 (2): 114–6. doi:10.1159/000133513. PMID 8467709.
Gong QH, Cho JW, Huang T, et al. (2001). "Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus". Pharmacogenetics. 11 (4): 357–68. doi:10.1097/00008571-200106000-00011. PMID 11434514.
Ross CJ, Katzov-Eckert H, Dubé MP, et al. (2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nat. Genet. 41 (12): 1345–9. doi:10.1038/ng.478. PMID 19898482. S2CID 21293339.
Johnson AD, Kavousi M, Smith AV, Chen MH, Dehghan A, Aspelund T, Lin JP, van Duijn CM, Harris TB, Cupples LA, Uitterlinden AG, Launer L, Hofman A, Rivadeneira F, Stricker B, Yang Q, O'Donnell CJ, Gudnason V, Witteman JC (July 2009). "Genome-wide association meta-analysis for total serum bilirubin levels". Hum. Mol. Genet. 18 (14): 2700–10. doi:10.1093/hmg/ddp202. PMC2701336. PMID 19414484.
ugt1a5, glucuronosyltransferase, enzyme, that, humans, encoded, gene, identifiersaliases, udpgt, udpgt, ugt1e, glucuronosyltransferase, family, member, a5external, idsomim, 606430, homologene, 117984, genecards, gene, location, human, chromosome, human, band2q. UDP glucuronosyltransferase 1 5 is an enzyme that in humans is encoded by the UGT1A5 gene 3 4 5 UGT1A5IdentifiersAliasesUGT1A5 UDPGT UDPGT 1 5 UGT1E UDP glucuronosyltransferase family 1 member A5External IDsOMIM 606430 HomoloGene 117984 GeneCards UGT1A5Gene location Human Chr Chromosome 2 human 1 Band2q37 1Start233 712 907 bp 1 End233 773 300 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inkidneyduodenumsmall intestinelivercolonstomachright lobe of livern aMore reference expression dataBioGPSn aGene ontologyMolecular functionglycosyltransferase activity transferase activity glucuronosyltransferase activity hexosyltransferase activity UDP glycosyltransferase activityCellular componentintegral component of membrane membrane endoplasmic reticulum endoplasmic reticulum membrane intracellular membrane bounded organelleBiological processmetabolism xenobiotic glucuronidation flavonoid glucuronidationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez54579n aEnsemblENSG00000288705n aUniProtP35504n aRefSeq mRNA NM 019078n aRefSeq protein NP 061951n aLocation UCSC Chr 2 233 71 233 77 Mbn aPubMed search 2 n aWikidataView Edit HumanFunction editThis gene encodes a UDP glucuronosyltransferase an enzyme of the glucuronidation pathway that transforms small lipophilic molecules such as steroids bilirubin hormones and drugs into water soluble excretable metabolites This gene is part of a complex locus that encodes several UDP glucuronosyltransferases The locus includes thirteen unique alternate first exons followed by four common exons Four of the alternate first exons are considered pseudogenes Each of the remaining nine 5 exons may be spliced to the four common exons resulting in nine proteins with different N termini and identical C termini Each first exon encodes the substrate binding site and is regulated by its own promoter 3 References edit a b c GRCh38 Ensembl release 89 ENSG00000288705 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene UDP glucuronosyltransferase 1 family Ritter JK Chen F Sheen YY Tran HM Kimura S Yeatman MT Owens IS February 1992 A novel complex locus UGT1 encodes human bilirubin phenol and other UDP glucuronosyltransferase isozymes with identical carboxyl termini J Biol Chem 267 5 3257 61 doi 10 1016 S0021 9258 19 50724 4 PMID 1339448 Mackenzie PI Owens IS Burchell B Bock KW Bairoch A Belanger A Fournel Gigleux S Green M Hum DW Iyanagi T Lancet D Louisot P Magdalou J Chowdhury JR Ritter JK Schachter H Tephly TR Tipton KF Nebert DW August 1997 The UDP glycosyltransferase gene superfamily recommended nomenclature update based on evolutionary divergence Pharmacogenetics 7 4 255 69 doi 10 1097 00008571 199708000 00001 PMID 9295054 Further reading editYea SS Lee SS Kim WY et al 2008 Genetic variations and haplotypes of UDP glucuronosyltransferase 1A locus in a Korean population Ther Drug Monit 30 1 23 34 doi 10 1097 FTD 0b013e3181633824 PMID 18223459 S2CID 34396409 Sanna S Busonero F Maschio A et al 2009 Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia Hum Mol Genet 18 14 2711 8 doi 10 1093 hmg ddp203 PMC 2701337 PMID 19419973 Zhang T Haws P Wu Q 2004 Multiple Variable First Exons A Mechanism for Cell and Tissue Specific Gene Regulation Genome Res 14 1 79 89 doi 10 1101 gr 1225204 PMC 314283 PMID 14672974 King CD Rios GR Green MD Tephly TR 2000 UDP glucuronosyltransferases Curr Drug Metab 1 2 143 61 doi 10 2174 1389200003339171 PMID 11465080 van Es HH Bout A Liu J et al 1993 Assignment of the human UDP glucuronosyltransferase gene UGT1A1 to chromosome region 2q37 Cytogenet Cell Genet 63 2 114 6 doi 10 1159 000133513 PMID 8467709 Gong QH Cho JW Huang T et al 2001 Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus Pharmacogenetics 11 4 357 68 doi 10 1097 00008571 200106000 00011 PMID 11434514 Tukey RH Strassburg CP 2000 Human UDP glucuronosyltransferases metabolism expression and disease Annu Rev Pharmacol Toxicol 40 581 616 doi 10 1146 annurev pharmtox 40 1 581 PMID 10836148 Ross CJ Katzov Eckert H Dube MP et al 2009 Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy Nat Genet 41 12 1345 9 doi 10 1038 ng 478 PMID 19898482 S2CID 21293339 Johnson AD Kavousi M Smith AV Chen MH Dehghan A Aspelund T Lin JP van Duijn CM Harris TB Cupples LA Uitterlinden AG Launer L Hofman A Rivadeneira F Stricker B Yang Q O Donnell CJ Gudnason V Witteman JC July 2009 Genome wide association meta analysis for total serum bilirubin levels Hum Mol Genet 18 14 2700 10 doi 10 1093 hmg ddp202 PMC 2701336 PMID 19414484 This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 2 is a stub You can help Wikipedia by expanding it vte Retrieved from 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