CYP2R1 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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CYP2R1 |
| Official Name | cytochrome P450 family 2 subfamily R member 1 [Source:HGNC Symbol;Acc:HGNC:20580] |
| Ensembl ID | ENSG00000186104 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 2 subfamily R member 1, Vitamin D 25-hydroxylase |
| Synonyms | cytochrome P450 family 2 subfamily R member 1, cytochrome P450, family 2, subfamily r, 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 CYP2R1 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
- vitamin D3 25-hydroxylase
- vitamin D binding
- protein homodimerization
- iron ion binding
- enzyme
- heme binding
Pathways
Biological processes and signaling networks where the CYP2R1 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.
binds
disease
- selective 25-hydroxyvitamin D deficiency
- vitamin d-dependent rickets, type 1
- susceptibility to insulin-dependent diabetes mellitus
- androgenic alopecia
- COVID-19
- vitamin D deficiency
- chronic obstructive pulmonary disease
- dextran sodium sulfate-induced colitis
regulates
- VDR
- vitamin
- calcifediol
- cholecalciferol
- vitamin D
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP2R1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- organic acid metabolic process
- response to cesium ion
- xenobiotic metabolic process
- vitamin metabolic process
- vitamin D metabolic process
- response to ionizing radiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
- intracellular membrane-bounded organelle
Molecular Function
What the gene product does at the molecular level
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
- protein homodimerization activity
- iron ion binding
- steroid hydroxylase activity
- vitamin D3 25-hydroxylase activity
- heme binding