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Immunogen sequence: MAVESQGGRP LVLGLLLCVL GPVVSHAGKI LLIPVDGSHW LSMLGAIQQL QQRGHEIVVL APDASLYIRD GAFYTLKTYP VPFQREDVKE SFVSLGHNVF ENDSFLQRVI KTYKKIKKDS AMLLSGCSHL LHNKELMASL AESSFDVMLT DPFLPCSPIV AQYLSLPTVF FLHALPCSLE FEATQCPNPF SYVPRPLSSH; Positive Samples: HepG2, HL-60, SH-SY5Y, SW480, mouse liver, mouse kidney, mouse lung, rat liver; Cellular Location: Endoplasmic reticulum, Endoplasmic reticulum membrane, Microsome, Single-pass membrane protein
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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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: B1; 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 family member 1; UDP-glucuronosyltransferase 1 family, member 1; UDP-glucuronosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A isoform 1; UDP-glucuronosyltransferase 1A1; UDPGT; UDPGT 1-1; UGT 1A; UGT-1A; UGT1 01; UGT1*1; UGT1-01; UGT1.1; UGT1A1; UGTBR1
基因别名: BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1; Udpgt-1a; UGT1; UGT1A; UGT1A01; UGT1A1; UgtBr1
UniProt ID: (Human) P22309, (Mouse) Q63886, (Rat) Q64550
Entrez Gene ID: (Human) 54658, (Mouse) 394436, (Rat) 24861
分子生物学功能:
glycosyltransferase