UGT1A1

Gene Information
 
Gene Symbol
UGT1A1
 
Aliases
BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A
 
Entrez Gene ID
 
Gene Name
UDP glucuronosyltransferase 1 family, polypeptide A1
 
Chromosomal Location
2q37.1
 
HGNC ID
 
Summary
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This 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. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. (provided by RefSeq)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006789 Biological process Bilirubin conjugation TAS 1339448
GO:0007586 Biological process Digestion NAS 1898728
GO:0008202 Biological process Steroid metabolic process IC 19996319
GO:0008210 Biological process Estrogen metabolic process TAS 8780690
GO:0017144 Biological process Drug metabolic process IC 19996319
Protein Information
 
Protein Name
UDP-glucuronosyltransferase 1-1
 
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. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR002213
 
Pfam
Pfam Accession Pfam ID
PF00201 UDPGT UDP-glucoronosyl and UDP-glucosyl transferase
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000304845 P22309

Associated Diseases

Diseases References
Cancer 15179405, 18335219, 1966888, 11805731
Cholelithiasis 18081723, 15710570, 16237771, 19309288
Crigler-najjar syndrome 11855932, 9156798, 19830808, 10097514
Gilberts syndrome 10091406, 7565971, 12499798, 12139570
Hemolysis 10390262, 12677174, 11915038, 16628735
   
References
 
Primary:

Loss of WT1 expression in the endometrium of infertile PCOS patients: a hyperandrogenic effect?

Gonzalez D, Thackeray H, Lewis P D, Mantani A, Brook N, Ahuja K, Margara R, Joels L, White J O, Conlan R S
Institute of Life Science, Swansea University, College of Medicine, and Singleton Hospital, Swansea SA2 8PP, United Kingdom.
J Clin Endocrinol Metab. 2012 Mar;97(3):957-66. Epub 2012 Jan 11.

 

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