CYP46A1 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 protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CYP46A1 |
| Official Name | cytochrome P450 family 46 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2641] |
| Ensembl ID | ENSG00000036530 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 46 subfamily A member 1 |
| Synonyms | CH24H, CP46, CYP46, CYPC24, cytochrome P450 family 46 subfamily A member 1, cytochrome P450, family 46, 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 CYP46A1 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
- enzyme
- steroid hydroxylase
- 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
- chronic obstructive pulmonary disease
- Alzheimer disease
- liver cancer
- epithelial cancer
- coronary artery disease
- pancreatic endocrine tumor
- pancreatic neoplasia
- diabetic nephropathy
- nonalcoholic fatty liver disease
- hepatitis B virus-related hepatocellular carcinoma
role in cell
- quantity
- phosphorylation in
- expression in
- morphology
- formation in
- metabolism in
- accumulation in
- processing in
- accumulation
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
- membrane fraction
- presynaptic regions
- postsynaptic region
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- presynaptic membrane
- postsynaptic membrane
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP46A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- progesterone metabolic process
- regulation of long-term synaptic potentiation
- cholesterol catabolic process
- xenobiotic metabolic process
- nervous system development
- bile acid biosynthetic process
- sterol metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- dendrite
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- cholesterol 24-hydroxylase activity
- steroid hydroxylase activity
- heme binding