InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UGT1A4

Summary

InnateDB Protein

IDBP-83566.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UGT1A4

Protein Name

UDP glucuronosyltransferase 1 family, polypeptide A4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362508

InnateDB Gene

IDBG-407472 (UGT1A4)

Protein Structure

UniProt Annotation

Function

UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity). {ECO:0000250}.

Subcellular Localization

Microsome. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.

Disease Associations

Gilbert syndrome (GILBS) [MIM:143500]: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. Note=The disease is caused by mutations affecting the gene represented in this entry.Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: 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. {ECO:0000269PubMed:1634050}. Note=The disease is caused by mutations affecting the gene represented in this entry.Crigler-Najjar syndrome 2 (CN2) [MIM:606785]: 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. {ECO:0000269PubMed:8276413, ECO:0000269PubMed:8280139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 and isoform 2 are expressed in liver, kidney, colon and small intestine. Isoform 2 but not isoform 1 is expressed in esophagus. Not expressed in skin. {ECO:0000269PubMed:1339448, ECO:0000269PubMed:18004212}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015020	glucuronosyltransferase activity
GO:0016758	transferase activity, transferring hexosyl groups
GO:0019899	enzyme binding
GO:0030246	carbohydrate binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006805	xenobiotic metabolic process
GO:0008152	metabolic process
GO:0030259	lipid glycosylation
GO:0044281	small molecule metabolic process
GO:0052695	cellular glucuronidation