Gene
cyp7b1
- ID
- ZDB-GENE-070912-293
- Name
- cytochrome P450, family 7, subfamily B, polypeptide 1
- Symbol
- cyp7b1 Nomenclature History
- Previous Names
-
- cyp7c1
- si:ch211-39l18.4
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have steroid hydroxylase activity. Predicted to be involved in bile acid biosynthetic process and cholesterol homeostasis. Predicted to localize to endoplasmic reticulum and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 3 and hereditary spastic paraplegia 5A. Orthologous to human CYP7B1 (cytochrome P450 family 7 subfamily B member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital bile acid synthesis defect 3 | Alliance | Bile acid synthesis defect, congenital, 3 | 613812 |
| hereditary spastic paraplegia 5A | Alliance | Spastic paraplegia 5A, autosomal recessive | 270800 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017972 | Cytochrome P450, conserved site |
| Family | IPR001128 | Cytochrome P450 |
| Family | IPR002403 | Cytochrome P450, E-class, group IV |
| Family | IPR024204 | Cytochrome P450, cholesterol 7-alpha-monooxygenase-type |
| Family | IPR050529 | Cytochrome P450, sterol 14-alpha demethylase |
| Homologous_superfamily | IPR036396 | Cytochrome P450 superfamily |
Domain Details Per Protein
| Protein | Length | Cytochrome P450 | Cytochrome P450, cholesterol 7-alpha-monooxygenase-type | Cytochrome P450, conserved site | Cytochrome P450, E-class, group IV | Cytochrome P450, sterol 14-alpha demethylase | Cytochrome P450 superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FEI0
|
504 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cyp7b1-201
(1)
|
Ensembl | 1,707 nt |
Interactions and Pathways
No data available
Plasmids
No data available