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 have 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 steroid hydroxylase activity. Involved in cellular response to vitamin D; hematopoietic stem cell proliferation; and vitamin D3 metabolic process. Predicted to localize to cytoplasm and intracellular membrane-bounded organelle. Is expressed in liver; muscle; ovary; and visceral fat. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Orthologous to human CYP2R1 (cytochrome P450 family 2 subfamily R member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Peng et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cyp2r1 Human Ortholog
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
Associated With cyp2r1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017972 Cytochrome P450, conserved site
Family IPR001128 Cytochrome P450
Family IPR002401 Cytochrome P450, E-class, group I
Homologous_superfamily IPR036396 Cytochrome P450 superfamily
Domain Details Per Protein
Protein Length Cytochrome P450 Cytochrome P450, conserved site Cytochrome P450, E-class, group I Cytochrome P450 superfamily
UniProtKB:F8W4J4 190
UniProtKB:A9JRH5 488
UniProtKB:F8W5N4 229
UniProtKB:F6P2A1 506
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations