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Search Thermo Fisher Scientific
Peptide sequence: DGSHWLSMLG AIQQLQQRGH EIVVLAPDAS LYIRDGAFYT LKTYPVPFQR
Sequence homology: Horse: 86%; Human: 100%; Mouse: 79%; Rat: 82%
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. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
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Protein Aliases: bilirubin UDP-glucuronosyltranserase; bilirubin UDP-glucuronosyltransferase 1-1; bilirubin UDP-glucuronosyltransferase isozyme 1; Bilirubin-specific UDPGT isozyme 1; EC 2.4.1.17; HUG BR1; hUG-BR1; HUGBR1; UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A isoform 1; UDP-glucuronosyltransferase 1A1; UDPGT 1-1; UGT 1A; UGT-1A; UGT1 01; UGT1*1; UGT1-01; UGT1.1; UGT1A1
Gene Aliases: BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1; UGT1; UGT1A; UGT1A1
UniProt ID: (Human) P22309
Entrez Gene ID: (Human) 54658
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