Entity Details

Primary name UGT1A1
Entity type gene
Source Source Link

Details

PrimaryID54658
RefseqGeneNG_002601
SymbolUGT1A1
NameUDP glucuronosyltransferase family 1 member A1
Chromosome2
Location2q37.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-06-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUD11_HUMAN

GO terms

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GOName
GO:0001889 liver development
GO:0001972 retinoic acid binding
GO:0004857 enzyme inhibitor activity
GO:0005496 steroid binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0006789 bilirubin conjugation
GO:0006953 acute-phase response
GO:0007584 response to nutrient
GO:0008202 steroid metabolic process
GO:0008210 estrogen metabolic process
GO:0015020 glucuronosyltransferase activity
GO:0017144 drug metabolic process
GO:0019899 enzyme binding
GO:0031100 animal organ regeneration
GO:0032496 response to lipopolysaccharide
GO:0034663 endoplasmic reticulum chaperone complex
GO:0042167 heme catabolic process
GO:0042493 response to drug
GO:0042573 retinoic acid metabolic process
GO:0042594 response to starvation
GO:0042803 protein homodimerization activity
GO:0045922 negative regulation of fatty acid metabolic process
GO:0045939 negative regulation of steroid metabolic process
GO:0046483 heterocycle metabolic process
GO:0046982 protein heterodimerization activity
GO:0048471 perinuclear region of cytoplasm
GO:0051552 flavone metabolic process
GO:0052695 cellular glucuronidation
GO:0052696 flavonoid glucuronidation
GO:0052697 xenobiotic glucuronidation
GO:0070069 cytochrome complex
GO:0070980 biphenyl catabolic process
GO:0071361 cellular response to ethanol
GO:0071385 cellular response to glucocorticoid stimulus
GO:0071392 cellular response to estradiol stimulus
GO:1904224 negative regulation of glucuronosyltransferase activity
GO:2001030 negative regulation of cellular glucuronidation

Diseases

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Disease IDSourceNameDescription
143500 OMIMGilbert syndrome (GILBS)Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. The disease is caused by variants affecting the gene represented in this entry.
606785 OMIMCrigler-Najjar syndrome 2 (CN2)Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
218800 OMIMCrigler-Najjar syndrome 1 (CN1)Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
237900 OMIMTransient familial neonatal hyperbilirubinemia (HBLRTFN)A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. The disease may be caused by variants affecting the gene represented in this entry. The defect has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia.