CYP7A1 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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | CYP7A1 |
| Official Name | cytochrome P450 family 7 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2651] |
| Ensembl ID | ENSG00000167910 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 7 subfamily A member 1, cholesterol 7 alpha-monooxygenase, cholesterol 7α-hydroxylase |
| Synonyms | 7-α Hydroxylase, C7 α h, CHAP, cholesterol 7alpha-hydroxylase, Cholesterol7 α Hydroxylase, Cholesterol hydroxylase 7 α, CP7A, CYP7, CYP7A, CYP7S1, CYPVII, CYPVIIc, cytochrome P450 family 7 subfamily A member 1, cytochrome P450, family 7, subfamily a, polypeptide 1 |
| 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 CYP7A1 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 7alpha-monooxygenase
- enzyme
Pathways
Biological processes and signaling networks where the CYP7A1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- progressive familial intrahepatic cholestasis type 1
- cholelithiasis
- progressive familial intrahepatic cholestasis type 2
- cerebrotendinous xanthomatosis
- steatorrhea
- nonalcoholic steatohepatitis
- dermatological disorder
- hyperkeratosis
- dry skin
role in cell
- expression in
- apoptosis
- response by
- infiltration by
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 membrane-bounded organelle
- endoplasmic reticulum membrane
- smooth endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP7A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of fatty acid biosynthetic process
- positive regulation of cholesterol biosynthetic process
- bile acid biosynthetic process
- cholesterol homeostasis
- response to ethanol
- negative regulation of collagen biosynthetic process
- cholesterol catabolic process
- cellular response to glucose stimulus
- cellular response to cholesterol
- regulation of bile acid biosynthetic process
- sterol metabolic process
- bile acid and bile salt transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
Molecular Function
What the gene product does at the molecular level
- 24-hydroxycholesterol 7alpha-hydroxylase activity
- iron ion binding
- cholesterol 7-alpha-monooxygenase activity
- heme binding