CYP39A1 (cytochrome P450 family 39 subfamily A member 1)

2012-11-01  

Identity

HGNC
LOCATION
6p12.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 51302
MIM: 605994
HGNC: 17449
Ensembl: ENSG00000146233

Variants:

dbSNP: 51302
ClinVar: 51302
TCGA: ENSG00000146233
COSMIC: CYP39A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146233ENST00000275016Q9NYL5
ENSG00000146233ENST00000619708A0A087WTD2

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
Primary bile acid biosynthesisKEGGhsa00120
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

References

Pubmed IDYearTitleCitations
347630232022Association of the CYP39A1 G204E Genetic Variant with Increased Risk of Glaucoma and Blindness in Patients with Exfoliation Syndrome.2
347630232022Association of the CYP39A1 G204E Genetic Variant with Increased Risk of Glaucoma and Blindness in Patients with Exfoliation Syndrome.2
336204062021Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.7
336204062021Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.7
323928032020Orphan Nuclear Receptor RORα Regulates Enzymatic Metabolism of Cerebral 24S-Hydroxycholesterol through CYP39A1 Intronic Response Element Activation.7
323928032020Orphan Nuclear Receptor RORα Regulates Enzymatic Metabolism of Cerebral 24S-Hydroxycholesterol through CYP39A1 Intronic Response Element Activation.7
264753442015CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer.5
264753442015CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer.5
241921172013Effect of genetic variants GSTA1 and CYP39A1 and age on busulfan clearance in pediatric patients undergoing hematopoietic stem cell transplantation.15
241921172013Effect of genetic variants GSTA1 and CYP39A1 and age on busulfan clearance in pediatric patients undergoing hematopoietic stem cell transplantation.15
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
195536122009Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.19
195536122009Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.19

Citation

Dessen P

CYP39A1 (cytochrome P450 family 39 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52988/cyp39a1-(cytochrome-p450-family-39-subfamily-a-member-1)