UGT1A6 (UDP glucuronosyltransferase family 1 member A6)

2007-02-01 Affiliation

Identity

HGNC

UGT1A6

LOCATION

2q37.1

LOCUSID

54578

ALIAS

GNT1,HLUGP,HLUGP1,UDPGT,UDPGT

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167165	ENST00000305139	P19224
ENSG00000167165	ENST00000305139	Q5DSZ8
ENSG00000167165	ENST00000373424	P19224
ENSG00000167165	ENST00000406651	B5MCT4
ENSG00000167165	ENST00000441351	C9JMY5
ENSG00000167165	ENST00000446481	B5MCT4
ENSG00000167165	ENST00000484784	H7C5F8

Expression (GTEx)

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

Pathway	Source	External ID
Pentose and glucuronate interconversions	KEGG	ko00040
Ascorbate and aldarate metabolism	KEGG	ko00053
Steroid hormone biosynthesis	KEGG	ko00140
Retinol metabolism	KEGG	ko00830
Porphyrin and chlorophyll metabolism	KEGG	ko00860
Metabolism of xenobiotics by cytochrome P450	KEGG	ko00980
Drug metabolism - cytochrome P450	KEGG	ko00982
Drug metabolism - other enzymes	KEGG	ko00983
Pentose and glucuronate interconversions	KEGG	hsa00040
Ascorbate and aldarate metabolism	KEGG	hsa00053
Steroid hormone biosynthesis	KEGG	hsa00140
Retinol metabolism	KEGG	hsa00830
Porphyrin and chlorophyll metabolism	KEGG	hsa00860
Metabolism of xenobiotics by cytochrome P450	KEGG	hsa00980
Drug metabolism - cytochrome P450	KEGG	hsa00982
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolic pathways	KEGG	hsa01100
Glucuronate pathway (uronate pathway)	KEGG	M00014
Chemical carcinogenesis	KEGG	hsa05204
Chemical carcinogenesis	KEGG	ko05204
Glucuronate pathway (uronate pathway)	KEGG	hsa_M00014
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase II conjugation	REACTOME	R-HSA-156580
Glucuronidation	REACTOME	R-HSA-156588

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA130620651	anthracyclines and related substances	Chemical	ClinicalAnnotation	associated		PD	21900104, 23441093
PA131285527	oxaliplatin	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	23963147
PA165110775	SN-38	Chemical	Pathway	associated
PA165958521	febuxostat	Chemical	ClinicalAnnotation	associated		PD	27798726
PA166115442	s 1 (combination)	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	23963147
PA166118041	deferiprone	Chemical	ClinicalAnnotation	associated		PD	24036429
PA420	UGT1A1	Gene	VipGene	associated			11037804, 11434514, 12019197, 12181437, 12969965, 14647407, 15179404, 1651156, 17058217, 17728214, 18004212, 18349289, 18466101, 18491077, 18518849, 19364970, 19390945, 19794410, 19852077, 19997083, 20562211, 8467709, 10381366
PA443756	Colonic Neoplasms	Disease	ClinicalAnnotation	associated		PD
PA443937	Drug Toxicity	Disease	VariantAnnotation	not associated		PD
PA444065	Epilepsy	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	15761113, 21806385, 23099353, 28763744
PA444318	Gout	Disease	ClinicalAnnotation	associated		PD	27798726
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated		PD	21900104, 23441093
PA445601	Osteosarcoma	Disease	ClinicalAnnotation	associated	PK		29791011
PA446051	Vomiting	Disease	VariantAnnotation	associated		PD
PA446108	Colorectal Neoplasms	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	23386248, 23963147
PA446432	beta-Thalassemia	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	17164591, 24036429
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated		PD
PA448015	acetaminophen	Chemical	Literature, MultilinkAnnotation, Pathway, VariantAnnotation	associated	PK		11714888, 15761113, 16696573, 17164591, 23279026, 23462933, 26049587
PA448320	allopurinol	Chemical	ClinicalAnnotation	associated		PD	27798726
PA448497	aspirin	Chemical	ClinicalAnnotation	associated		PD
PA449212	daunorubicin	Chemical	GuidelineAnnotation	associated
PA449412	doxorubicin	Chemical	GuidelineAnnotation	associated
PA450085	irinotecan	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	23386248, 23963147
PA450428	methotrexate	Chemical	ClinicalAnnotation	associated	PK		29791011
PA450911	phenobarbital	Chemical	Pathway	associated			26049587
PA450947	phenytoin	Chemical	Pathway	associated			26049587
PA451257	risperidone	Chemical	ClinicalAnnotation	associated		PD
PA451846	valproic acid	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	15761113, 21806385, 23099353, 28763744

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19898482	2009	Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.	84
23441093	2013	Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children.	48
18992148	2008	Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.	32
22228101	2012	Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.	31
18992263	2009	Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.	27
19956635	2009	Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.	27
16141797	2005	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.	26
15770010	2005	Genetic variants in the UGT1A6 enzyme, aspirin use, and the risk of colorectal adenoma.	23
20453000	2010	A Large-scale genetic association study of esophageal adenocarcinoma risk.	23

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