≡

UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1)

[Edit]

UGT1; GNT1; UGT1A; UDPGT; HUG-BR1; UGT1-1; Bilirubin-specific UDPGT isozyme 1; UDP-glucuronosyltransferase 1-1

UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1)
CCC G920
HGNC 12530
MGI 98898
PubMed 22307138
RGD 3935
UniProt P22309
Wiki UGT1A1
UGT-1A is a uridine diphosphate glucuronyltransferase (UDP-glucuronosyltransferase, UDPGT), an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. The UGT1A1 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG920Hu01 Recombinant UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAG920Hu21 Monoclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) WB; IHC; ICC; IP.
PAG920Hu01 Polyclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) WB; IHC; ICC; IP.
Assay Kits SEG920Hu ELISA Kit for UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG920Ra01 Recombinant UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAG920Ra21 Monoclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) WB; IHC; ICC; IP.
PAG920Ra01 Polyclonal Antibody to UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) WB; IHC; ICC; IP.
Assay Kits SEG920Ra ELISA Kit for UDP Glucuronosyltransferase 1 Family, Polypeptide A1 (UGT1A1) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells."J. Biol. Chem. 266:1043-1047(1991) [PubMed] [Europe PMC] [Abstract]
  2. "A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini."J. Biol. Chem. 267:3257-3261(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus."Pharmacogenetics 11:357-368(2001) [PubMed] [Europe PMC] [Abstract]
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  5. "Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome."Hepatol. Res. 9:152-163(1997)
  6. "A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins."Mol. Biol. Cell 13:4456-4469(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus."Hepatology 45:128-138(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates."Pharmacogenet. Genomics 17:1017-1029(2007) [PubMed] [Europe PMC] [Abstract]
  9. "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."Pharmacogenet. Genomics 17:1077-1089(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones."Mol. Pharm. 6:1466-1482(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants."Hum. Mutat. 31:52-59(2010) [PubMed] [Europe PMC] [Abstract]
  12. "Genome-wide association meta-analysis for total serum bilirubin levels."Hum. Mol. Genet. 18:2700-2710(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro."Drug Metab. Dispos. 38:1785-1789(2010) [PubMed] [Europe PMC] [Abstract]
  15. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  16. "Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I."FASEB J. 6:2859-2863(1992) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II."Biochem. Biophys. Res. Commun. 197:1239-1244(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2."Genomics 18:171-173(1993) [PubMed] [Europe PMC] [Abstract]
  19. "A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase."J. Biol. Chem. 268:23573-23579(1993) [PubMed] [Europe PMC] [Abstract]
  20. "Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases."Hum. Genet. 94:693-697(1994) [PubMed] [Europe PMC] [Abstract]
  21. "Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro."J. Clin. Invest. 93:564-570(1994) [PubMed] [Europe PMC] [Abstract]
  22. "Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase."J. Clin. Invest. 94:2385-2391(1994) [PubMed] [Europe PMC] [Abstract]
  23. "Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome."Lancet 345:958-959(1995) [PubMed] [Europe PMC] [Abstract]
  24. "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."FEBS Lett. 390:294-298(1996) [PubMed] [Europe PMC] [Abstract]
  25. "Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease."Biochim. Biophys. Acta 1407:40-50(1998) [PubMed] [Europe PMC] [Abstract]
  26. "Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II."J. Hum. Genet. 43:111-114(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene."J. Pediatr. 132:1045-1047(1998) [PubMed] [Europe PMC] [Abstract]
  28. "Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype."Hum. Mutat. 16:297-306(2000) [PubMed] [Europe PMC] [Abstract]
  29. "Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene."Pediatrics 106:E59-E59(2000) [PubMed] [Europe PMC] [Abstract]
  30. "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."J. Med. Genet. 38:244-249(2001) [PubMed] [Europe PMC] [Abstract]
  31. "Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome."Hum. Mutat. 20:399-401(2002) [PubMed] [Europe PMC] [Abstract]
  32. "Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome."Pediatr. Int. 44:427-432(2002) [PubMed] [Europe PMC] [Abstract]
  33. "Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II."Biochem. Biophys. Res. Commun. 310:735-741(2003) [PubMed] [Europe PMC] [Abstract]
  34. "Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation."Hum. Mutat. 25:325-325(2005) [PubMed] [Europe PMC] [Abstract]
  35. "Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia."Haematologica 92:133-134(2007) [PubMed] [Europe PMC] [Abstract]
  36. "UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias."Ann. Hum. Genet. 77:482-487(2013) [PubMed] [Europe PMC] [Abstract]
  37. "Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia."Clin. Biochem. 46:170-172(2013) [PubMed] [Europe PMC] [Abstract]