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cytochrome P450 family 11 subfamily A member 1
Summary
- Gene Symbol
-
- CYP11A1
- Aliases
-
- P450SCC
- cholesterol monooxygenase (side-chain-cleaving)
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cholesterol metabolism
- Direct protein sequencing
- Disease variant
- Heme
- Membrane
- Mitochondrion
- Mitochondrion inner membrane
- Monooxygenase
- Reference proteome
- Steroid biosynthesis
- Steroidogenesis
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0S2Z3R3 |
|
| P05108 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cellular response to peptide hormone stimulus | ||
| cholesterol metabolic process | ||
| vitamin D metabolic process | ||
| C21-steroid hormone biosynthetic process | ||
| cortisol metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial matrix |
|
|
| mitochondrial inner membrane | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| heme binding | ||
| iron ion binding | ||
| protein binding | ||
| cholesterol monooxygenase (side-chain-cleaving) activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- cytochrome P450
- Functional Category
-
- C: Energy production and conversion
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Cytochrome P450 superfamily |
| Cytochrome P450, E-class, group I |
| Cytochrome P450, conserved site |
| Cytochrome P450 |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050546 | congenital adrenal insufficiency | |
| DOID:0050811 | congenital adrenal hyperplasia | |
| DOID:10763 | hypertension | |
| DOID:11446 | sciatic neuropathy | |
| DOID:1824 | status epilepticus | |
| DOID:1924 | hypogonadism | |
| DOID:2527 | nephrosis | |
| DOID:4195 | hyperglycemia | |
| DOID:9352 | type 2 diabetes mellitus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000028 | Cryptorchidism |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0000037 | Male pseudohermaphroditism |
| HP:0000127 | Renal salt wasting |
| HP:0000142 | Abnormal vagina morphology |
| HP:0000144 | Decreased fertility |
| HP:0000151 | Aplasia of the uterus |
| HP:0000771 | Gynecomastia |
| HP:0000823 | Delayed puberty |
| HP:0000835 | Adrenal hypoplasia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:168558 |
|
| OMIM:613743 |
|
| ORPHA:289548 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000259
- Gene Name
- cytochrome P450, family 11, subfamily A, polypeptide 1
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 13070 | MGI:88582 | MOUSE62016 | ||
| 29680 | RGD:69325 | RATNO41971 | ||
| 80374 | ZFIN:ZDB-GENE-010306-1 | DANRE27258 | ||
| 338048 | BOVIN16668 | |||
| 403329 | PIGXX32066 | |||
| 478365 | CANLF12689 | |||
| 563363 | ZFIN:ZDB-GENE-130911-1 | |||
| 708065 | MACMU40942 | |||
| 748998 | 9598_0:003cb3 | PANTR10791 | ||
| 100029519 | MONDO06501 |
