CYP11A1 Gene Summary [Human]
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CYP11A1 |
| Official Name | cytochrome P450 family 11 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2590] |
| Ensembl ID | ENSG00000140459 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 11 subfamily A member 1, cholesterol monooxygenase (side-chain-cleaving) |
| Synonyms | CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME, Cscc, CYP11A, CYPXIA1, cytochrome P450 family 11 subfamily A member 1, cytochrome P450, family 11, subfamily a, polypeptide 1, D9Ertd411e, Erato Doi 411, P450SCC, P450(scc), Scc |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYP11A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytochrome P450 (CYP) superfamily
- Cytochrome P450
- cholesterol binding
- cholesterol monooxygenase (side-chain-cleaving)
- enzyme
- protein binding
- heme binding
- NADH2 or NADPH2 1 atom incorporation:oxygen oxidoreductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Alzheimer disease
- ulcerative colitis
- congenital adrenal insufficiency with partial or complete 46,XY sex reversal
- Cushing syndrome
- chronic obstructive pulmonary disease
- preeclampsia
- endogenous Cushings syndrome
- Crohn disease
- feminization
role in cell
- expression in
- binding in
- phosphorylation in
- apoptosis
- proliferation
- G2/M phase
- activation in
- migration
- abnormal morphology
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular compartment
- intracellular space
- outer membranes
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP11A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glucocorticoid biosynthetic process
- cortisol metabolic process
- cellular response to peptide hormone stimulus
- cholesterol metabolic process
- C21-steroid hormone biosynthetic process
- sterol metabolic process
- vitamin D metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cholesterol monooxygenase (side-chain-cleaving) activity
- iron ion binding
- heme binding