UGT1A (UDP glucuronosyltransferase family 1 member A complex locus)

2010-03-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
GNT1,UGT,UGT1,UGT1A@

Other Information

Locus ID:

NCBI: 7361
HGNC: 12529

Variants:

dbSNP: 7361
ClinVar: 7361
COSMIC: UGT1A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123346bilirubinChemicalClinicalAnnotationassociatedPK25778466
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPKPD25778466
PA446443Liver Failure, AcuteDiseaseClinicalAnnotationassociatedPD
PA448015acetaminophenChemicalClinicalAnnotationassociatedPKPD
PA450085irinotecanChemicalClinicalAnnotationassociatedPD25778466

References

Pubmed IDYearTitleCitations
209724382010A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.188
184801852008Expression of UGT1A and UGT2B mRNA in human normal tissues and various cell lines.91
113258192001CYP2C9 and UGT1A6 genotypes modulate the protective effect of aspirin on colon adenoma risk.33
200539972010Interaction between oxidative stress sensor Nrf2 and xenobiotic-activated aryl hydrocarbon receptor in the regulation of the human phase II detoxifying UDP-glucuronosyltransferase 1A10.29
225580972012A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.26
234081162013The UDP-glucuronosyltransferase (UGT) 1A polymorphism c.2042C>G (rs8330) is associated with increased human liver acetaminophen glucuronidation, increased UGT1A exon 5a/5b splice variant mRNA ratio, and decreased risk of unintentional acetaminophen-induced acute liver failure.26
220868722013Androgen receptor signals regulate UDP-glucuronosyltransferases in the urinary bladder: a potential mechanism of androgen-induced bladder carcinogenesis.25
230529462013Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.23
180042122007Genetic 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.20
156434972005UDP-glucuronosyltransferases 1A expression in human urinary bladder and colon cancer by immunohistochemistry.17

Citation

Dessen P

UGT1A (UDP glucuronosyltransferase family 1 member A complex locus)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51398/ugt1a