UGT1A5 explained
UDP-glucuronosyltransferase 1-5 is an enzyme that in humans is encoded by the UGT1A5 gene.[1] [2] [3]
Function
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.[1]
Further reading
- Yea SS, Lee SS, Kim WY, etal . Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population. . Ther Drug Monit . 30 . 1 . 23–34 . 2008 . 18223459 . 10.1097/FTD.0b013e3181633824 . 34396409 .
- Sanna S, Busonero F, Maschio A, etal . Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia . Hum. Mol. Genet. . 18 . 14 . 2711–8 . 2009 . 19419973 . 2701337 . 10.1093/hmg/ddp203 .
- Zhang T, Haws P, Wu Q . Multiple Variable First Exons: A Mechanism for Cell- and Tissue-Specific Gene Regulation . Genome Res. . 14 . 1 . 79–89 . 2004 . 14672974 . 314283 . 10.1101/gr.1225204 .
- King CD, Rios GR, Green MD, Tephly TR . UDP-glucuronosyltransferases . Curr. Drug Metab. . 1 . 2 . 143–61 . 2000 . 11465080 . 10.2174/1389200003339171.
- van Es HH, Bout A, Liu J, etal . Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37 . Cytogenet. Cell Genet. . 63 . 2 . 114–6 . 1993 . 8467709 . 10.1159/000133513.
- Gong QH, Cho JW, Huang T, etal . Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus . Pharmacogenetics . 11 . 4 . 357–68 . 2001 . 11434514 . 10.1097/00008571-200106000-00011.
- Tukey RH, Strassburg CP . Human UDP-glucuronosyltransferases: metabolism, expression, and disease . Annu. Rev. Pharmacol. Toxicol. . 40 . 581–616 . 2000 . 10836148 . 10.1146/annurev.pharmtox.40.1.581 .
- Ross CJ, Katzov-Eckert H, Dubé MP. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy . Nat. Genet. . 41 . 12 . 1345–9 . 2009 . 19898482 . 10.1038/ng.478 . 21293339 . etal.
- 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 . Genome-wide association meta-analysis for total serum bilirubin levels . Hum. Mol. Genet. . 18 . 14 . 2700–10 . July 2009 . 19414484 . 2701336 . 10.1093/hmg/ddp202 .
Notes and References
- Web site: Entrez Gene: UDP glucuronosyltransferase 1 family.
- Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS . 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 . February 1992 . 10.1016/S0021-9258(19)50724-4 . 1339448 . free .
- 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 . The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence . Pharmacogenetics . 7 . 4 . 255–69 . August 1997 . 9295054 . 10.1097/00008571-199708000-00001.
