1. Gene
  2. UGT1A4 - UDP glucuronosyltransferase family 1 member A4 Gene

UGT1A4 - UDP glucuronosyltransferase family 1 member A4 Gene

Homo sapiens

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

Gene ID: 54657 | Gene type: protein coding

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

UGT1A4 Protein Structure

UDPGT

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

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  • 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