UGT1A8 (UDP glucuronosyltransferase family 1 member A8)

2012-08-01  

Identity

HGNC
UGT1A8
LOCATION
2q37.1
LOCUSID
54576
ALIAS
GNT1,UDPGT,UDPGT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54576
MIM: 606433
HGNC: 12540
Ensembl: ENSG00000242366

Variants:

dbSNP: 54576
ClinVar: 54576
TCGA: ENSG00000242366
COSMIC: UGT1A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000242366ENST00000373450Q9HAW9
ENSG00000242366ENST00000373450Q5DSZ6

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Ascorbate and aldarate metabolismKEGGko00053
Steroid hormone biosynthesisKEGGko00140
Retinol metabolismKEGGko00830
Porphyrin and chlorophyll metabolismKEGGko00860
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Drug metabolism - cytochrome P450KEGGko00982
Drug metabolism - other enzymesKEGGko00983
Pentose and glucuronate interconversionsKEGGhsa00040
Ascorbate and aldarate metabolismKEGGhsa00053
Steroid hormone biosynthesisKEGGhsa00140
Retinol metabolismKEGGhsa00830
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Drug metabolism - cytochrome P450KEGGhsa00982
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Glucuronate pathway (uronate pathway)KEGGM00014
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
GlucuronidationREACTOMER-HSA-156588

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164748728mycophenolic acidChemicalMultilinkAnnotation, Pathwayassociated24220207
PA165110775SN-38ChemicalPathwayassociated
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD20565459
PA165958521febuxostatChemicalClinicalAnnotationassociatedPD27798726
PA166048848MenopauseDiseaseClinicalAnnotationassociatedPD27546373
PA166104276ABT-751ChemicalClinicalAnnotationassociatedPK23670235
PA420UGT1A1GeneVipGeneassociated15179404, 18004212, 18491077, 18518849, 19794410, 19997083, 8467709, 11434514
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPKPD15761113, 21806385, 27900402, 28763744
PA444318GoutDiseaseClinicalAnnotationassociatedPD27798726
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPK23670235
PA445601OsteosarcomaDiseaseClinicalAnnotationassociatedPK29791011
PA445629SeizuresDiseaseClinicalAnnotationassociatedPD27900402
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD27546373
PA448320allopurinolChemicalClinicalAnnotationassociatedPD27798726
PA449167cyclosporineChemicalClinicalAnnotationassociatedPD20565459
PA450428methotrexateChemicalClinicalAnnotationassociatedPK29791011
PA450566mycophenolate mofetilChemicalClinicalAnnotationassociatedPD20565459
PA450732oxcarbazepineChemicalClinicalAnnotationassociatedPD27900402
PA451221raloxifeneChemicalClinicalAnnotation, VariantAnnotationassociatedPKPD27546373
PA451257risperidoneChemicalClinicalAnnotationassociatedPD
PA451365sirolimusChemicalClinicalAnnotationassociatedPD20565459
PA451578tacrolimusChemicalClinicalAnnotationassociatedPD20565459
PA451846valproic acidChemicalClinicalAnnotation, VariantAnnotationassociatedPKPD15761113, 21806385, 28763744

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
150579012004Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.37
173398692007The impact of UGT1A8, UGT1A9, and UGT2B7 genetic polymorphisms on the pharmacokinetic profile of mycophenolic acid after a single oral dose in healthy volunteers.28
163972242006Characterization of common UGT1A8, UGT1A9, and UGT2B7 variants with different capacities to inactivate mutagenic 4-hydroxylated metabolites of estradiol and estrone.25
192441092009Functional significance of UDP-glucuronosyltransferase variants in the metabolism of active tamoxifen metabolites.25
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
202978052010Use of glucuronidation fingerprinting to describe and predict mono- and dihydroxyflavone metabolism by recombinant UGT isoforms and human intestinal and liver microsomes.22
153192942004Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.19

Citation

Dessen P

UGT1A8 (UDP glucuronosyltransferase family 1 member A8)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52824/ugt1a8