CYP11A1 (cytochrome P450 family 11 subfamily A member 1)

2007-02-01  

Identity

HGNC
CYP11A1
LOCATION
15q24.1
LOCUSID
1583
ALIAS
CYP11A,CYPXIA1,P450SCC
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380069472024The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.2
380069472024The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.2
375529042023Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.0
377326232023Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.2
381466482023The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.0
375529042023Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.0
377326232023Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.2
381466482023The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.0
358860142022In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.4
365936182022Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.1
358860142022In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.4
365936182022Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.1
337160492021The significance of CYP11A1 expression in skin physiology and pathology.46
337232032021Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University Students.3
342311712021Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India.4

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/gene-explorer/case-report-explorer/hgnc