Details for: UGT1A1
Associated with
Other Information
Genular Protein ID: 4100184511
Symbol: UD11_HUMAN
Name: Bilirubin-specific UDPGT isozyme 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1898728
Title: Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells.
PubMed ID: 1898728
PubMed ID: 1339448
Title: A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini.
PubMed ID: 1339448
PubMed ID: 11434514
Title: Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.
PubMed ID: 11434514
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 12181437
Title: Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).
PubMed ID: 12181437
DOI: 10.1124/mol.62.3.608
PubMed ID: 15472229
Title: Specificity and regioselectivity of the conjugation of estradiol, estrone, and their catecholestrogen and methoxyestrogen metabolites by human uridine diphospho-glucuronosyltransferases expressed in endometrium.
PubMed ID: 15472229
DOI: 10.1210/jc.2004-0331
PubMed ID: 15470161
Title: Identification of the UDP-glucuronosyltransferase isoforms involved in mycophenolic acid phase II metabolism.
PubMed ID: 15470161
PubMed ID: 16595710
Title: Human UDP-glucuronosyltransferase, UGT1A8, glucuronidates dihydrotestosterone to a monoglucuronide and further to a structurally novel diglucuronide.
PubMed ID: 16595710
PubMed ID: 17496722
Title: Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.
PubMed ID: 17496722
PubMed ID: 18052087
Title: Disposition of flavonoids via enteric recycling: enzyme stability affects characterization of prunetin glucuronidation across species, organs, and UGT isoforms.
PubMed ID: 18052087
DOI: 10.1021/mp700135a
PubMed ID: 17187418
Title: Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus.
PubMed ID: 17187418
DOI: 10.1002/hep.21464
PubMed ID: 17179145
Title: Oligomerization of the UDP-glucuronosyltransferase 1A proteins: homo- and heterodimerization analysis by fluorescence resonance energy transfer and co-immunoprecipitation.
PubMed ID: 17179145
PubMed ID: 18004206
Title: Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
PubMed ID: 18004206
PubMed ID: 18004212
Title: Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity.
PubMed ID: 18004212
PubMed ID: 18674515
Title: The human UDP-glucuronosyltransferase UGT1A3 is highly selective towards N2 in the tetrazole ring of losartan, candesartan, and zolarsartan.
PubMed ID: 18674515
PubMed ID: 18719240
Title: The configuration of the 17-hydroxy group variably influences the glucuronidation of beta-estradiol and epiestradiol by human UDP-glucuronosyltransferases.
PubMed ID: 18719240
PubMed ID: 19545173
Title: Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones.
PubMed ID: 19545173
DOI: 10.1021/mp8002557
PubMed ID: 19414484
Title: Genome-wide association meta-analysis for total serum bilirubin levels.
PubMed ID: 19414484
DOI: 10.1093/hmg/ddp202
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 20610558
Title: Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro.
PubMed ID: 20610558
PubMed ID: 23288867
Title: Regiospecificity and stereospecificity of human UDP-glucuronosyltransferases in the glucuronidation of estriol, 16-epiestriol, 17-epiestriol, and 13-epiestradiol.
PubMed ID: 23288867
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 1634050
Title: Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
PubMed ID: 1634050
PubMed ID: 8280139
Title: Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
PubMed ID: 8280139
PubMed ID: 8276413
Title: Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
PubMed ID: 8276413
PubMed ID: 8226884
Title: A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
PubMed ID: 8226884
PubMed ID: 7989045
Title: Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
PubMed ID: 7989045
DOI: 10.1007/bf00206965
PubMed ID: 7906695
Title: Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
PubMed ID: 7906695
DOI: 10.1172/jci117008
PubMed ID: 7989595
Title: Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
PubMed ID: 7989595
DOI: 10.1172/jci117604
PubMed ID: 7715297
Title: Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.
PubMed ID: 7715297
PubMed ID: 8706880
Title: A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
PubMed ID: 8706880
PubMed ID: 9639672
Title: Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
PubMed ID: 9639672
PubMed ID: 9621515
Title: Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
PubMed ID: 9621515
PubMed ID: 9627603
Title: Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
PubMed ID: 9627603
PubMed ID: 11013440
Title: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
PubMed ID: 11013440
DOI: 10.1002/1098-1004(200010)16:4<297::aid-humu2>3.0.co;2-z
PubMed ID: 11061796
Title: Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene.
PubMed ID: 11061796
PubMed ID: 11370628
Title: Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.
PubMed ID: 11370628
DOI: 10.1136/jmg.38.4.244
PubMed ID: 12402338
Title: Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
PubMed ID: 12402338
DOI: 10.1002/humu.10122
PubMed ID: 12139570
Title: Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
PubMed ID: 12139570
PubMed ID: 14550264
Title: Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.
PubMed ID: 14550264
PubMed ID: 15712364
Title: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
PubMed ID: 15712364
DOI: 10.1002/humu.9322
PubMed ID: 17229650
Title: Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
PubMed ID: 17229650
PubMed ID: 19830808
Title: Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
PubMed ID: 19830808
DOI: 10.1002/humu.21133
PubMed ID: 23992562
Title: UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
PubMed ID: 23992562
DOI: 10.1111/ahg.12039
PubMed ID: 23099197
Title: Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.
PubMed ID: 23099197
Sequence Information:
- Length: 533
- Mass: 59591
- Checksum: 19C90231AD0EB547
- Sequence:
MAVESQGGRP LVLGLLLCVL GPVVSHAGKI LLIPVDGSHW LSMLGAIQQL QQRGHEIVVL APDASLYIRD GAFYTLKTYP VPFQREDVKE SFVSLGHNVF ENDSFLQRVI KTYKKIKKDS AMLLSGCSHL LHNKELMASL AESSFDVMLT DPFLPCSPIV AQYLSLPTVF FLHALPCSLE FEATQCPNPF SYVPRPLSSH SDHMTFLQRV KNMLIAFSQN FLCDVVYSPY ATLASEFLQR EVTVQDLLSS ASVWLFRSDF VKDYPRPIMP NMVFVGGINC LHQNPLSQEF EAYINASGEH GIVVFSLGSM VSEIPEKKAM AIADALGKIP QTVLWRYTGT RPSNLANNTI LVKWLPQNDL LGHPMTRAFI THAGSHGVYE SICNGVPMVM MPLFGDQMDN AKRMETKGAG VTLNVLEMTS EDLENALKAV INDKSYKENI MRLSSLHKDR PVEPLDLAVF WVEFVMRHKG APHLRPAAHD LTWYQYHSLD VIGFLLAVVL TVAFITFKCC AYGYRKCLGK KGRVKKAHKS KTH
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.