Gene
cyp2r1
- ID
- ZDB-GENE-110114-1
- Name
- cytochrome P450, family 2, subfamily R, polypeptide 1
- Symbol
- cyp2r1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable heme binding activity; 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; and vitamin D3 25-hydroxylase activity. Acts upstream of or within several processes, including cellular response to vitamin D; hematopoietic stem cell proliferation; and vitamin D3 metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in liver; muscle; ovary; and visceral fat. Used to study vitamin D-dependent rickets type 1B. Human ortholog(s) of this gene implicated in artery disease (multiple); brain infarction; obesity; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1B. Orthologous to human CYP2R1 (cytochrome P450 family 2 subfamily R member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| vitamin D-dependent rickets type 1B | Alliance | Rickets due to defect in vitamin D 25-hydroxylation deficiency | 600081 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| vitamin D-dependent rickets type 1B | cyp2r1zf734/zf734 | standard conditions | Cortes et al., 2015 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cytochrome P450 | Cytochrome P450, conserved site | Cytochrome P450, E-class, group I | Cytochrome P450 family 2 | Cytochrome P450 superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB32TRP2 | InterPro | 443 | |||||
| UniProtKB:A0AB32TWU8 | InterPro | 384 | |||||
| UniProtKB:F6P2A1 | InterPro | 506 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cyp2r1-201
(1)
|
Ensembl | 2,317 nt | ||
| mRNA |
cyp2r1-202
(1)
|
Ensembl | 886 nt | ||
| mRNA |
cyp2r1-203
(1)
|
Ensembl | 813 nt | ||
| ncRNA |
cyp2r1-003
(1)
|
Ensembl | 314 nt |
Interactions and Pathways
No data available
Plasmids
No data available