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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 | ||
| vitamin D metabolic process | ||
| sterol metabolic process |
|
|
| C21-steroid hormone biosynthetic process | ||
| glucocorticoid biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial inner membrane | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| iron ion binding | ||
| cholesterol monooxygenase (side-chain-cleaving) activity | ||
| protein binding | ||
| heme binding |
GO Hierarchy
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:0050457 | Sertoli cell-only syndrome | |
| DOID:0050546 | congenital adrenal insufficiency | |
| DOID:0050569 | Seckel syndrome | |
| DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
| DOID:0050811 | congenital adrenal hyperplasia | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060254 | Robinow syndrome | |
| DOID:0060390 | distal 10q deletion syndrome | |
| DOID:0060391 | chromosome 13q14 deletion syndrome | |
| DOID:0060394 | chromosome 15q13.3 microdeletion syndrome |
- 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 |
|---|---|
| OMIM:613743 |
|
| ORPHA:289548 |
|
| ORPHA:168558 |
|
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 | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103188165 | CALMI04003 | ||
| 102360223 | LATCH13079 | ||
| 80374 | ZFIN:ZDB-GENE-010306-1 | DANRE27258 | |
| 563363 | ZFIN:ZDB-GENE-130911-1 | ||
| 103021835 | ASTMX00454 | ||
| 113573160 | ELEEL11199 | ||
| 115197752 | SALTR11571 | ||
| 115197753 | SALTR11571 | ||
| 115550806 | GADMO59622 | ||
| 115551270 | GADMO59622 |
