Gene
cyp11a1
- ID
- ZDB-GENE-010306-1
- Name
- cytochrome P450, family 11, subfamily A, polypeptide 1
- Symbol
- cyp11a1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable cholesterol monooxygenase (side-chain-cleaving) activity. Acts upstream of or within several processes, including C21-steroid hormone biosynthetic process; epiboly; and positive regulation of microtubule polymerization. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial inner membrane. Is expressed in brain; endocrine system; female organism; interrenal primordium; and yolk syncytial layer. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia and congenital adrenal insufficiency. Orthologous to human CYP11A1 (cytochrome P450 family 11 subfamily A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 49 figures from 30 publications
- Cross-Species Comparison
- High Throughput Data
-
- GEO (1) Expression Atlas (1) UCSC scRNA-seq (1)
- Thisse Expression Data
-
- cb957 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital adrenal insufficiency | Alliance | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | 613743 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017972 | Cytochrome P450, conserved site |
| Family | IPR001128 | Cytochrome P450 |
| Family | IPR002399 | Cytochrome P450, mitochondrial |
| Family | IPR002401 | Cytochrome P450, E-class, group I |
| Family | IPR033283 | Cholesterol side-chain cleavage enzyme, mitochondrial |
| Homologous_superfamily | IPR036396 | Cytochrome P450 superfamily |
Domain Details Per Protein
| Protein | Length | Cholesterol side-chain cleavage enzyme, mitochondrial | Cytochrome P450 | Cytochrome P450, conserved site | Cytochrome P450, E-class, group I | Cytochrome P450, mitochondrial | Cytochrome P450 superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:X1WFM9
|
235 | ||||||
|
UniProtKB:X1WH33
|
266 | ||||||
|
UniProtKB:Q7SYJ6
|
509 | ||||||
|
UniProtKB:Q8JH93
|
509 | ||||||
|
UniProtKB:A8KC03
|
509 | ||||||
|
UniProtKB:X1WBB6
|
245 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
cyp11a1-201
(1)
|
2185 nt | |
| mRNA |
cyp11a1-203
(1)
|
833 nt | |
| mRNA |
cyp11a1-204
(1)
|
776 nt | |
| mRNA |
cyp11a1-205
(1)
|
884 nt |
Interactions and Pathways
No data available
Plasmids
No data available