UGT1A4 (UDP glucuronosyltransferase family 1 member A4)

2015-03-01 Affiliation

Identity

HGNC

UGT1A4

LOCATION

2q37.1

LOCUSID

54657

ALIAS

GNT1,HUG-BR2,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: 54657
MIM: 606429
HGNC: 12536
Ensembl: ENSG00000244474

Variants:

dbSNP: 54657
ClinVar: 54657
TCGA: ENSG00000244474
COSMIC: UGT1A4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000244474	ENST00000373409	P22310
ENSG00000244474	ENST00000450233	P22310

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
Metabolism of porphyrins	REACTOME	R-HSA-189445
Heme degradation	REACTOME	R-HSA-189483
Biological oxidations	REACTOME	R-HSA-211859
Phase II conjugation	REACTOME	R-HSA-156580
Glucuronidation	REACTOME	R-HSA-156588

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA165110775	SN-38	Chemical	Pathway	associated
PA165958521	febuxostat	Chemical	ClinicalAnnotation	associated		PD	27798726
PA166104276	ABT-751	Chemical	ClinicalAnnotation	associated	PK		23670235
PA166131338	tamoxifen-n-glucuronide	Chemical	MultilinkAnnotation	associated			27098059
PA166213001	clozapine 5-N-glucuronide	Chemical	VariantAnnotation	associated	PK		22565219
PA420	UGT1A1	Gene	VipGene	associated			15179404, 18004212, 18491077, 18518849, 19794410, 19997083, 8467709, 11434514
PA443560	Breast Neoplasms	Disease	ClinicalAnnotation	associated	PK	PD	22047493, 27098059
PA444065	Epilepsy	Disease	ClinicalAnnotation	associated	PK	PD	23263737, 24820767, 26790665, 28763744, 29791014
PA444318	Gout	Disease	ClinicalAnnotation	associated		PD	27798726
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated	PK		23670235
PA445601	Osteosarcoma	Disease	ClinicalAnnotation	associated	PK		29791011
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated		PD
PA448320	allopurinol	Chemical	ClinicalAnnotation	associated		PD	27798726
PA448432	anastrozole	Chemical	ClinicalAnnotation	associated	PK		23371966
PA450164	lamotrigine	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	22047493, 23263737, 24820767, 26790665, 29791014
PA450428	methotrexate	Chemical	ClinicalAnnotation	associated	PK		29791011
PA450496	midazolam	Chemical	Pathway	associated
PA450688	olanzapine	Chemical	VariantAnnotation	ambiguous	PK		21750471
PA451257	risperidone	Chemical	ClinicalAnnotation	associated		PD
PA451581	tamoxifen	Chemical	ClinicalAnnotation, Pathway, VariantAnnotation	ambiguous	PK	PD	22047493, 23962908, 27098059
PA451627	testosterone	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	22047493
PA451846	valproic acid	Chemical	ClinicalAnnotation	associated	PK		28763744
PA451899	vitamin d and analogues	Chemical	Literature, MultilinkAnnotation	associated			24641623

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
14871856	2004	Correlation between UDP-glucuronosyltransferase genotypes and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone glucuronidation phenotype in human liver microsomes.	41
15057901	2004	Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.	37
15057901	2004	Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.	37
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
18632753	2008	Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.	28
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25
20453000	2010	A Large-scale genetic association study of esophageal adenocarcinoma risk.	23
17556526	2007	Pediatric development of glucuronidation: the ontogeny of hepatic UGT1A4.	17

Citation

Dessen P

UGT1A4 (UDP glucuronosyltransferase family 1 member A4)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55625/ugt1a4