UGT1A3 (UDP glucuronosyltransferase family 1 member A3)

2016-01-01  

Identity

HGNC
UGT1A3
LOCATION
2q37.1
LOCUSID
54659
ALIAS
UDPGT,UDPGT

Other Information

Locus ID:

NCBI: 54659
MIM: 606428
HGNC: 12535
Ensembl: ENSG00000243135

Variants:

dbSNP: 54659
ClinVar: 54659
TCGA: ENSG00000243135
COSMIC: UGT1A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000243135ENST00000482026P35503
ENSG00000243135ENST00000482026Q5DT01

Expression (GTEx)

0
1
2
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
PA10251atazanavirChemicalClinicalAnnotationassociatedPD17058217
PA133950441hmg coa reductase inhibitorsChemicalPathwayassociated
PA164760843deferasiroxChemicalClinicalAnnotationassociatedPKPD27043265, 27193993, 28346059, 30651574
PA165110775SN-38ChemicalPathwayassociated
PA165958521febuxostatChemicalClinicalAnnotationassociatedPD27798726
PA166123367gepirone hydrochlorideChemicalVariantAnnotationnot associatedPK25192553
PA420UGT1A1GeneVipGeneassociated15179404, 18004212, 18491077, 18518849, 19794410, 19997083, 8467709, 11434514
PA443450AsthmaDiseaseClinicalAnnotation, VariantAnnotationambiguousPK25192553, 28940478
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPK28763744
PA444318GoutDiseaseClinicalAnnotationassociatedPD27798726
PA444511HyperbilirubinemiaDiseaseClinicalAnnotationassociatedPD17058217
PA445601OsteosarcomaDiseaseClinicalAnnotationassociatedPK29791011
PA446432beta-ThalassemiaDiseaseClinicalAnnotationassociatedPKPD27043265, 27193993, 28346059, 30651574
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA447230HIVDiseaseClinicalAnnotationassociatedPD17058217
PA448320allopurinolChemicalClinicalAnnotationassociatedPD27798726
PA448500atorvastatinChemicalClinicalAnnotation, Pathway, VariantAnnotationassociatedPKPD22555810
PA449688fluvastatinChemicalPathwayassociated
PA449957ibuprofenChemicalPathwayassociated25502615
PA450272lovastatinChemicalPathwayassociated
PA450428methotrexateChemicalClinicalAnnotationassociatedPK29791011
PA450546montelukastChemicalClinicalAnnotation, VariantAnnotationassociatedPK28940478
PA451257risperidoneChemicalClinicalAnnotationassociatedPD
PA451260ritonavirChemicalClinicalAnnotationassociatedPD17058217
PA451363simvastatinChemicalPathwayassociated
PA451846valproic acidChemicalClinicalAnnotationassociatedPK28763744
PA451899vitamin d and analoguesChemicalLiterature, MultilinkAnnotationassociated24641623

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
150579012004Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.37
199566352009Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.27
198915532009Genetic polymorphisms of drug-metabolizing enzymes and anti-TB drug-induced hepatitis.23
201422492010Associations between polymorphisms in glucuronidation and sulfation enzymes and mammographic breast density in premenopausal women in the United States.12
246416232014Human UGT1A4 and UGT1A3 conjugate 25-hydroxyvitamin D3: metabolite structure, kinetics, inducibility, and interindividual variability.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
236118092013Human UDP-glucuronosyltransferase (UGT) 2B10 in drug N-glucuronidation: substrate screening and comparison with UGT1A3 and UGT1A4.10
192049062009Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population.9

Citation

Dessen P

UGT1A3 (UDP glucuronosyltransferase family 1 member A3)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55580/ugt1a3