CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

2014-11-01  

Identity

HGNC
CYP46A1
LOCATION
14q32.2
LOCUSID
10858
ALIAS
CP46,CYP46
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10858
MIM: 604087
HGNC: 2641
Ensembl: ENSG00000036530

Variants:

dbSNP: 10858
ClinVar: 10858
TCGA: ENSG00000036530
COSMIC: CYP46A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000036530ENST00000261835Q9Y6A2
ENSG00000036530ENST00000380228Q9Y6A2
ENSG00000036530ENST00000554611G3V366
ENSG00000036530ENST00000554917H0YJU5
ENSG00000036530ENST00000556313H0YJI0

Expression (GTEx)

0
10
20
30
40
50
60
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
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
385925972024The Relationship Between CYP46A1 Polymorphism and Suicide Risk: A Preliminary Investigation.0
385925972024The Relationship Between CYP46A1 Polymorphism and Suicide Risk: A Preliminary Investigation.0
379099612023Cytochrome P450 Family 46 Subfamily A Member 1 Promotes the Progression of Colorectal Cancer by Inducing Tumor Cell Proliferation and Angiogenesis.1
379445292023Cholesterol 24-hydroxylase at the choroid plexus contributes to brain immune homeostasis.0
379099612023Cytochrome P450 Family 46 Subfamily A Member 1 Promotes the Progression of Colorectal Cancer by Inducing Tumor Cell Proliferation and Angiogenesis.1
379445292023Cholesterol 24-hydroxylase at the choroid plexus contributes to brain immune homeostasis.0
345465112022Association of cholesterol 7α-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.3
345465112022Association of cholesterol 7α-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.3
317772022020Therapeutic implications of altered cholesterol homeostasis mediated by loss of CYP46A1 in human glioblastoma.32
328163632020Identification of CYP46A1 as a new regulator of lipid metabolism through CRISPR-based whole-genome screening.6
317772022020Therapeutic implications of altered cholesterol homeostasis mediated by loss of CYP46A1 in human glioblastoma.32
328163632020Identification of CYP46A1 as a new regulator of lipid metabolism through CRISPR-based whole-genome screening.6
295162832018CYP46A1 and the APOEε4 Allele Polymorphisms Correlate with the Risk of Alzheimer's Disease.8
295162832018CYP46A1 and the APOEε4 Allele Polymorphisms Correlate with the Risk of Alzheimer's Disease.8
282068542017The relationship between Multidrug Resistance Protein 1(rs1045642) and Cholesterol 24-hydroxylase (rs754203) genes polymorphism with type 2 diabetes mellitus.2

Citation

Dessen P

CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62257/gene-fusions/favicon/gene-fusions/?id=62257