CYP11A1 (cytochrome P450 family 11 subfamily A member 1)

2007-02-01  

Identity

HGNC
LOCATION
15q24.1
LOCUSID
ALIAS
CYP11A,CYPXIA1,P450SCC
FUSION GENES

Other Information

Locus ID:

NCBI: 1583
MIM: 118485
HGNC: 2590
Ensembl: ENSG00000140459

Variants:

dbSNP: 1583
ClinVar: 1583
TCGA: ENSG00000140459
COSMIC: CYP11A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140459ENST00000268053P05108
ENSG00000140459ENST00000268053A0A0S2Z3R3
ENSG00000140459ENST00000358632P05108
ENSG00000140459ENST00000416978C9JXV4
ENSG00000140459ENST00000435365E7EPP8
ENSG00000140459ENST00000450547C9JPU9
ENSG00000140459ENST00000566674H3BSZ1
ENSG00000140459ENST00000569662H3BS93

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGhsa_M00107
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGM00107
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Metabolic disorders of biological oxidation enzymesREACTOMER-HSA-5579029
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)REACTOMER-HSA-5579026
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Pregnenolone biosynthesisREACTOMER-HSA-196108
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
216367832011Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.72
18368131200820-Hydroxyvitamin D3, a product of vitamin D3 hydroxylation by cytochrome P450scc, stimulates keratinocyte differentiation.68
19543524200920-Hydroxycholecalciferol, product of vitamin D3 hydroxylation by P450scc, decreases NF-kappaB activity by increasing IkappaB alpha levels in human keratinocytes.64
228778692012Cytochrome P450scc-dependent metabolism of 7-dehydrocholesterol in placenta and epidermal keratinocytes.41
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
171106392007Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review.37
175076242007Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.37

Citation

Dessen P

CYP11A1 (cytochrome P450 family 11 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45822/cyp11a1