UDP-glucuronosyltransferase-1A (UDPGT-1A, bilirubin-specific isozyme 1, HUG-BR1, UGT1A1, GNT1, UGT1)

Function

• UDPGT is of major importance in the conjugation & subsequent elimination of potentially toxic xenobiotics & endogenous compounds
• glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 & IX-alpha-C12 monoconjugates & diconjugate

UDP-glucuronate + acceptor <--> UDP + acceptor beta-D-glucuronoside

Structure

belongs to the UDP-glycosyltransferase family

Compartment

microsome, endoplasmic reticulum

Alternative splicing

• named isoforms=1
• a number of isoforms are produced
• different isozymes have a different N-terminal domain & a common C-terminal domain of 245 residues

Expression

• expressed in liver
• not expressed in skin or kidney

Pathology

• defects in UGT1A1 are associated with
  • Gilbert syndrome (autosomal dominant) transient familial neonatal hyperbilirubinemia (same mutations as Gilbert's syndrome)
  • Crigler-Najjar syndrome type 1 (autosomal recessive)
  • Crigler-Najjar syndrome type 2 (autosomal dominant)

More general terms

• UDP-glucuronosyltransferase-1 (UDPGT-1)

Additional terms

• heme catabolism

Database

• OMIM: https://mirror.omim.org/entry/143500
• OMIM: https://mirror.omim.org/entry/191740
• OMIM: https://mirror.omim.org/entry/218800
• OMIM: https://mirror.omim.org/entry/237900
• OMIM: https://mirror.omim.org/entry/606785
• UniProt: http://www.uniprot.org/uniprot/P22309.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7361