UGT1A8 - UDP glucuronosyltransferase family 1 member A8 Gene

Also Known as GNT1; UGT1; UDPGT; UGT1A; UGT1H; UGT-1A; UGT-1H; UGT1.1; UGT1.8; UGT1A1; UGT1-01; UGT1-08; UGT1A8S; hUG-BR1; UDPGT 1-1; UDPGT 1-8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54576

About UGT1A8

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,617,633-233,773,300 (from NCBI)

This gene has 1 transcript (splice variant), 1221 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. The enzyme encoded by this gene has glucuronidase activity with many substrates including Coumarins, Phenols, Anthraquinones, Flavones, and some opioids. [provided by RefSeq, Jul 2008]

UGT1A8 Products (1)

mRNA Protein Name
NM_019076.5 NP_061949.3 UDP-glucuronosyltransferase 1A8 precursor
Molecular Function GO Annotation Evidence References Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
17179145 GOA
enables enzyme inhibitor activity IDA
IDA: Inferred from direct assay
19996319 GOA
enables enzyme inhibitor activity IGI
IGI: Inferred from genetic interaction
20610558 GOA
enables fatty acid binding IDA
IDA: Inferred from direct assay
19996319 GOA
enables glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
18052087 GOA
NOT enables glucuronosyltransferase activity IGI
IGI: Inferred from genetic interaction
20610558 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
enables steroid binding IDA
IDA: Inferred from direct assay
19996319 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular glucuronidation IDA
IDA: Inferred from direct assay
20610558 GOA
involved in fatty acid metabolic process IDA
IDA: Inferred from direct assay
20610558 GOA
involved in flavone metabolic process IDA
IDA: Inferred from direct assay
18052087 GOA
involved in flavonoid glucuronidation IDA
IDA: Inferred from direct assay
20056724 GOA
involved in negative regulation of cellular glucuronidation IDA
IDA: Inferred from direct assay
20610558 GOA
involved in negative regulation of fatty acid metabolic process IDA
IDA: Inferred from direct assay
20610558 GOA
involved in steroid metabolic process IDA
IDA: Inferred from direct assay
15472229 GOA
involved in xenobiotic glucuronidation IDA
IDA: Inferred from direct assay
20056724 GOA
NOT involved in xenobiotic metabolic process IDA
IDA: Inferred from direct assay
20610558 GOA
involved in xenobiotic metabolic process IDA
IDA: Inferred from direct assay
20610558 GOA
Cellular Component GO Annotation Evidence References 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

UGT1A8 Protein Structure

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (26 - 521)

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

UDP-glucuronosyltransferase 1A8

  • Bilirubin-specific UDPGT isozyme 1

Related Diseases

Diseases Alias
Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

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

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

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

Cholelithiasis
Kernicterus
  • Bilirubin Encephalopathy

  • Hyperbilirubinemic Encephalopathy

  • Kernicterus Spectrum Disorder

Pigmentation Disease
  • Pigmentation Disorders

  • Skin Pigmentation Disorder

Epicardium Cancer
  • Malignant Neoplasm Of Epicardium

  • Epicardial Tumor

  • Malignant Epicardial Tumor

  • Neoplasm Of Epicardium

Neonatal Jaundice
  • Neonatal Hyperbilirubinemia

  • Neonatal Icterus

  • Jaundice Neonatal

  • Jaundice, Neonatal

  • Hyperbilirubinemia, Neonatal

Dihydropyrimidine Dehydrogenase Deficiency
  • Dpd Deficiency

  • Familial Pyrimidinemia

  • Hereditary Thymine-Uraciluria

  • Dihydropyrimidinuria

  • Dpyd Deficiency

  • Thymine-Uraciluria, Hereditary

  • Pyrimidinemia, Familial

  • 5-Fluorouracil Toxicity

  • Dihydrouracil Dehydrogenase Deficiency

  • Familial Pyrimidinaemia

  • Thymine-Uracilurea

  • Familial Pyrimidemia

  • Pyrimidinemia Familial

  • DPYDD

Blood Group Incompatibility
Coumarin Resistance
  • Warfarin Resistance

  • Warfarin Sensitivity

  • Coumadin Sensitivity

  • Warfarin Response

  • Poor Metabolism Of Coumarin

  • Coumarin, Poor Metabolism Of

  • CMRES

Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
  • Malouf Syndrome

  • Najjar Syndrome

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

  • Cardiogenital Syndrome

  • Genital Anomaly With Cardiomyopathy

  • Cardiomyopathy With Primary Testicular Failure

  • Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism

  • Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism

  • Cardiomyopathy, Dilated, With Premature Ovarian Failure

  • Cardiomyopathy Eith Primary Testicular Failure

  • Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism

  • Dilated Cardiomyopathy With Premature Ovarian Failure

  • CMDHH

  • Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism

  • Cardiomyopathy Dilated With Premature Ovarian Failure

Glucosephosphate Dehydrogenase Deficiency
  • G6pd Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency

  • Deficiency Of Glucose-6-Phosphate Dehydrogenase

  • Glucose 6 Phosphate Dehydrogenase Deficiency

  • Deficiency Of G-6pd

  • G6pdd

Thiopurines, Poor Metabolism Of, 1
  • Thiopurine S-Methyltransferase Deficiency

  • Tpmt Deficiency

  • Thiopurine Methyltransferase Deficiency

  • Thiopurine S Methyltranferase Deficiency

  • THPM1

  • Tpmtd

  • Poor Metabolism Of Thiopurines-1

  • 6-Mercaptopurine Sensitivity

  • Thiopurines, Poor Metabolism Of

  • Poor Metabolism Of Thiopurines

Nephrotic Syndrome, Type 20
  • NPHS20

  • Nephrotic Syndrome Type 20

  • Nephrotic Syndrome 20

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

Autosomal Dominant Beta Thalassemia
  • Inclusion Body Beta-Thalassemia

Sickle Cell Anemia
  • Hemoglobin Sc Disease

  • Anemia, Sickle Cell

  • Hbsc Disease

  • Sickle Cell-Hemoglobin C Disease Syndrome

  • Hb Ss Disease

  • Sickle Cell Trait

  • Drepanocytosis

  • Haemoglobin Sc Disease

  • Hb Sc Disease

  • Hb-S/Hb-C Disease

  • Hb-Ss Disease Without Crisis

  • Hemoglobin S Disease Without Crisis

  • Sickle Cell Anaemia

  • Sickle-Cell/Hb-C Disease Without Crisis

  • Sickle Cell - Hemoglobin C Disease

  • Hbs Disease

  • Hemoglobin S Disease

  • Sickling Disorder Due To Hemoglobin S

  • SKCA

  • Sickle Cell Disease

  • Sickle Cell-Hemoglobin C Disease

  • Sickle-Cell Disease Carrier

  • Sickle-Cell Heterozygous Disorder

  • Haemoglobin A-S Genotype

  • Hb-S - [Sickle Cell Haemoglobin] Carrier

  • Sickle Cell Haemoglobin Trait

  • As - [Sickle Cell Trait]

  • Hbas - [Sickle Cell Haemoglobin Trait]

  • Sickle-Cell Trait Haemoglobin Disease

  • Haemoglobin Sickle Cell Trait Disorder

  • Heterozygous Sickle Cell Trait

  • Hbas - [Heterozygous Haemoglobin S]

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

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