UGT1A4 - UDP glucuronosyltransferase family 1 member A4 Gene

Also Known as GNT1; UGT1; UDPGT; UGT1A; UGT1D; UGT-1A; UGT-1D; UGT1.1; UGT1.4; UGT1A1; HUG-BR2; UGT1-01; UGT1-04; UGT1A4S; hUG-BR1; UDPGT 1-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54657

About UGT1A4

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,718,736-233,773,300 (from NCBI)

This gene has 2 transcripts (splice variants), 1237 orthologues and 21 paralogues.

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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, Steroids, and sapogenins. [provided by RefSeq, Jul 2008]

UGT1A4 Products (1)

mRNA Protein Name
NM_007120.3 NP_009051.1 UDP-glucuronosyltransferase 1A4 precursor
Molecular Function GO Annotation Evidence Verweise Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
17179145 GOA
enables glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
1898728 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
20610558 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
17179145 GOA
NOT enables retinoic acid binding IDA
IDA: Inferred from direct assay
20308471 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cellular glucuronidation IDA
IDA: Inferred from direct assay
18177842 GOA
involved in vitamin D3 metabolic process IDA
IDA: Inferred from direct assay
18177842 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
17179145 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UGT1A4 Protein Structure

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (29 - 525)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
Protein Preferred Names Protein Names

UDP-glucuronosyltransferase 1A4

  • Bilirubin-specific UDPGT isozyme 1

Related Diseases

Diseases Alias
Crigler-Najjar Syndrome, Type I
  • Crigler-Najjar Syndrome

  • Crigler-Najjar Syndrome Type 1

  • Bilirubin Udp Glucuronyl Transferase Deficiency

  • Crigler Najjar Syndrome

  • Crigler Najjar Syndrome, Type 1

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

  • Bilirubin-Ugt Deficiency

  • Hyperbilirubinemia, Crigler-Najjar Type I

  • Hblrcn1

  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia

  • Hereditary Unconjugated Hyperbilirubinemia

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

  • Bilirubin-Ugt Deficiency Type 1

  • Crigler-Najjar Syndrome 1

  • CN1

  • Cn-I

  • Crigler-Najjar Syndrome Type I

  • Hereditary Unconjugated Hyperbilirubinaemia

  • Ugt Deficiency

  • Bilirubin Glucuronosyltransferase Deficiency

  • Crigler-Najjar Disease Or Syndrome

  • Deficiency Of Glucuronosyltransferase

  • Glucuronyl Transferase Deficiency

  • Glucuronyltransferase Deficiency

  • Udp Glucuronyl Transferase Deficiency

  • Cns - [Crigler-Najjar Syndrome]

  • Congenital Familial Nonhemolytic Jaundice

Gilbert Syndrome
  • Gilbert Disease

  • Gilbert'S Disease

  • Gilbert'S Syndrome

  • Cholemia, Familial

  • Familial Nonhemolytic Jaundice

  • Meulengracht Syndrome

  • Gilbert Syndrome, Susceptibility To

  • Hyperbilirubinemia, Gilbert Type

  • Hblrg

  • Hyperbilirubinemia, Arias Type

  • Hyperbilirubinemia I

  • Constitutional Hyperbilirubinemia

  • Gilbert-Meulengracht Syndrome

  • Hereditary Nonhemolytic Jaundice

  • Hyperbilirubinemia Arias Type

  • Hyperbilirubinemia Type 1

  • Constitutional Liver Dysfunction

  • Gilbert-Lereboullet Syndrome

  • Hyperbilirubinemia 1

  • Unconjugated Benign Bilirubinemia

  • GILBS

  • Gilberts Syndrome

  • Familial Nonhaemolytic Jaundice

  • Constitutional Hyperbilirubinaemia

  • Hereditary Nonhaemolytic Bilirubinaemia

  • Familial Nonhaemolytic Bilirubinaemia

  • Idiopathic Hyperbilirubinaemia

  • Icterus Intermittens Juvenilis

  • Chronic Intermittent Juvenile Jaundice

  • Low-Grade Chronic Hyperbilirubinaemia Syndrome

  • Benign Unconjugated Bilirubinaemia Syndrome

  • Hereditary Nonhaemolytic Jaundice

  • Idiopathic Unconjugated Hyperbilirubinaemia

  • Gilbert--Lereboullet Syndrome

  • Constitutional Hepatic Dysfunction

  • Meulengracht Icterus

  • Cholaemia Familiaris Simplex

  • Familial Cholaemia

  • Congenital Familial Cholaemia

  • Physiologic Cholaemia

  • Hyperbilirubinaemia Type 1

  • Gilbert Cholaemia

Bilirubin, Serum Level Of, Quantitative Trait Locus 1
  • Bilirubin, Serum Level Of, Qtl1

  • BILIQTL1

  • Bilirubin, Serum Level Of, Quantitative Trait Locus, Type 1

Hyperbilirubinemia, Transient Familial Neonatal
  • Lucey-Driscoll Syndrome

  • Transient Familial Neonatal Hyperbilirubinemia

  • HBLRTFN

  • Hyperbilirubinemia, Familial Transient Neonatal

  • Hyperbilirubinemia Transient Familial Neonatal

  • Transient Familial Hyperbilirubinemia

Crigler-Najjar Syndrome, Type Ii
  • Crigler-Najjar Syndrome Type 2

  • Hyperbilirubinemia, Crigler-Najjar Type Ii

  • Hblrcn2

  • Arias Syndrome

  • Crigler Najjar Syndrome Type 2

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2

  • Bilirubin-Ugt Deficiency Type 2

  • Crigler-Najjar Syndrome 2

  • CN2

  • Cn-Ii

  • Crigler-Najjar Syndrome Type Ii

  • Crigler Najjar Syndrome, Type 2

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Bipolar I Disorder
  • Manic Depression Nos

  • Manic-Depressive Illness

  • Bipolar Disorder Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus UGT1A4 RGD RGD:1583689
Mus musculus UGT1A4 MGD MGI:3032634