UGT1A6 (UDP glucuronosyltransferase family 1 member A6)

2007-02-01  

Identity

HGNC
UGT1A6
LOCATION
2q37.1
LOCUSID
54578
ALIAS
GNT1,HLUGP,HLUGP1,UDPGT,UDPGT

Other Information

Locus ID:

NCBI: 54578
MIM: 606431
HGNC: 12538
Ensembl: ENSG00000167165

Variants:

dbSNP: 54578
ClinVar: 54578
TCGA: ENSG00000167165
COSMIC: UGT1A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167165ENST00000305139P19224
ENSG00000167165ENST00000305139Q5DSZ8
ENSG00000167165ENST00000373424P19224
ENSG00000167165ENST00000406651B5MCT4
ENSG00000167165ENST00000441351C9JMY5
ENSG00000167165ENST00000446481B5MCT4
ENSG00000167165ENST00000484784H7C5F8

Expression (GTEx)

0
1
2
3
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA130620651anthracyclines and related substancesChemicalClinicalAnnotationassociatedPD21900104, 23441093
PA131285527oxaliplatinChemicalClinicalAnnotation, VariantAnnotationambiguousPD23963147
PA165110775SN-38ChemicalPathwayassociated
PA165958521febuxostatChemicalClinicalAnnotationassociatedPD27798726
PA166115442s 1 (combination)ChemicalClinicalAnnotation, VariantAnnotationambiguousPD23963147
PA166118041deferiproneChemicalClinicalAnnotationassociatedPD24036429
PA420UGT1A1GeneVipGeneassociated11037804, 11434514, 12019197, 12181437, 12969965, 14647407, 15179404, 1651156, 17058217, 17728214, 18004212, 18349289, 18466101, 18491077, 18518849, 19364970, 19390945, 19794410, 19852077, 19997083, 20562211, 8467709, 10381366
PA443756Colonic NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA443937Drug ToxicityDiseaseVariantAnnotationnot associatedPD
PA444065EpilepsyDiseaseClinicalAnnotation, VariantAnnotationassociatedPKPD15761113, 21806385, 23099353, 28763744
PA444318GoutDiseaseClinicalAnnotationassociatedPD27798726
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21900104, 23441093
PA445601OsteosarcomaDiseaseClinicalAnnotationassociatedPK29791011
PA446051VomitingDiseaseVariantAnnotationassociatedPD
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationambiguousPD23386248, 23963147
PA446432beta-ThalassemiaDiseaseClinicalAnnotation, VariantAnnotationassociatedPKPD17164591, 24036429
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA448015acetaminophenChemicalLiterature, MultilinkAnnotation, Pathway, VariantAnnotationassociatedPK11714888, 15761113, 16696573, 17164591, 23279026, 23462933, 26049587
PA448320allopurinolChemicalClinicalAnnotationassociatedPD27798726
PA448497aspirinChemicalClinicalAnnotationassociatedPD
PA449212daunorubicinChemicalGuidelineAnnotationassociated
PA449412doxorubicinChemicalGuidelineAnnotationassociated
PA450085irinotecanChemicalClinicalAnnotation, VariantAnnotationambiguousPD23386248, 23963147
PA450428methotrexateChemicalClinicalAnnotationassociatedPK29791011
PA450911phenobarbitalChemicalPathwayassociated26049587
PA450947phenytoinChemicalPathwayassociated26049587
PA451257risperidoneChemicalClinicalAnnotationassociatedPD
PA451846valproic acidChemicalClinicalAnnotation, VariantAnnotationassociatedPKPD15761113, 21806385, 23099353, 28763744

References

Pubmed IDYearTitleCitations
378209412024Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy.0
378286592024The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.0
378209412024Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy.0
378286592024The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.0
365716502023Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.0
367189582023Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.0
365716502023Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.0
367189582023Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.0
362508372022Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.2
362508372022Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.2
334001342021UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.3
340009572021Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.2
334001342021UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.3
340009572021Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.2
306862912019A meta-analysis of the influence of UGT1A6 genetic polymorphisms on valproic acid pharmacokinetics
.5

Citation

Dessen P

UGT1A6 (UDP glucuronosyltransferase family 1 member A6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46238/ugt1a6-(udp-glucuronosyltransferase-family-1-member-a6)