CYP17A1 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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CYP17A1 |
| Official Name | cytochrome P450 family 17 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2593] |
| Ensembl ID | ENSG00000148795 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 17 subfamily A member 1, Steroid 17-alpha-monooxygenase |
| Synonyms | 17 alpha-hydroxylase, 17 α-hydroxylase, C17,20 Lyase, CPT7, CYP17, CYP17A, CYPXVII, cytochrome P450 family 17 subfamily A member 1, cytochrome P450, family 17, subfamily a, polypeptide 1, P450 17A1, p450 17alpha, p450 17alpha hydroxylase, P450C17, P450c17 alpha, P450c17 α, S17AH |
| 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 CYP17A1 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
- steroid 17alpha-monooxygenase
- 17alpha-hydroxyprogesterone aldolase
- oxygen binding
- enzyme
- heme binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- deficiency of steroid 17-alpha-monooxygenase
- major depression
- prostatic carcinoma
- infection
- metastatic prostatic adenocarcinoma
- prostate cancer
- tinea pedis
- recurrent prostatic adenocarcinoma
- metastatic castration resistant prostate adenocarcinoma
role in cell
- expression in
- growth
- abnormal morphology
- replication in
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
- presynaptic regions
- intracellular space
- postsynaptic region
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- microsome
- dendritic spines
- synaptic vesicles
- neurites
- cellular protrusions
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP17A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- progesterone metabolic process
- glucocorticoid biosynthetic process
- sex differentiation
- androgen biosynthetic process
- steroid metabolic process
- steroid biosynthetic process
- hormone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
- neuronal cell body
- axon
Molecular Function
What the gene product does at the molecular level
- oxygen binding
- iron ion binding
- steroid 17-alpha-monooxygenase activity
- heme binding