UDP glucuronosyltransferase family 1 member A1

Summary
Gene Symbol
  • UGT1A1
Aliases
  • UGT1A
Organism
Homo sapiens (human)
External Links
NCBI Gene
54658
HGNC
12530
KEGG Gene ID
hsa:54658
PubChem
54658
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Lipid metabolism
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q5DT03
P22309
  • Bilirubin-specific UDPGT isozyme 1
  • UDP-glucuronosyltransferase 1-1
  • UDP-glucuronosyltransferase 1A isoform 1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00699
Name
glucuronosyltransferase [EC:2.4.1.17]
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 259 in total
DO ID Disease Name Source
DOID:0060262 gallbladder disease
DOID:0060319 cardiac arrest
DOID:0060357 chylomicron retention disease
DOID:0060780 congenital diarrhea 6
DOID:0080147 lymphoblastic lymphoma
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
DOID:0080525 differentiated thyroid gland carcinoma
DOID:0090103 Huntington's disease-like 1
DOID:0090104 Huntington's disease-like 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 22 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000365 Hearing impairment
HP:0000750 Delayed speech and language development
HP:0000952 Jaundice
HP:0001080 Biliary tract abnormality
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001298 Encephalopathy
HP:0001337 Tremor
HP:0001343 Kernicterus
Displaying all 6 entries
Disease ID Disease Name
ORPHA:79234
  • Crigler-Najjar syndrome type 1
ORPHA:79235
  • Crigler-Najjar syndrome type 2
OMIM:237900
  • transient familial neonatal hyperbilirubinemia
OMIM:218800
  • Crigler-Najjar syndrome type 1
OMIM:143500
  • Gilbert syndrome
OMIM:606785
  • Crigler-Najjar syndrome type 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024