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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cytochrome P450 family 11 subfamily B member 1
Summary
- Gene Symbol
-
- CYP11B1
- Aliases
-
- CPN1
- FHI
- P450C11
- steroid 11-beta-monooxygenase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Congenital adrenal hyperplasia
- Direct protein sequencing
- Disease variant
- Heme
- Mitochondrion inner membrane
- Monooxygenase
- Reference proteome
- Steroid biosynthesis
- Steroidogenesis
- Transit peptide
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of blood pressure | ||
| cortisol metabolic process | ||
| cholesterol metabolic process |
GO Hierarchy
biological process
metabolic process [inference]
biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
response to stimulus [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial inner membrane | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| steroid 11-beta-monooxygenase activity | ||
| corticosterone 18-monooxygenase activity | ||
| iron ion 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:0014667 | disease of metabolism | |
| DOID:0050477 | Liddle syndrome | |
| DOID:0050811 | congenital adrenal hyperplasia | |
| DOID:0050891 | adrenal cortical adenoma | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060731 | congenital central hypoventilation syndrome | |
| DOID:0080156 | X-linked adrenal hypoplasia congenita | |
| DOID:0090122 | aromatase excess syndrome | |
| DOID:0111414 | trichohepatoenteric syndrome | |
| DOID:0111415 | trichohepatoenteric syndrome 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000040 | Long penis |
| HP:0000061 | Ambiguous genitalia, female |
| HP:0000062 | Ambiguous genitalia |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000127 | Renal salt wasting |
| HP:0000147 | Polycystic ovaries |
| HP:0000360 | Tinnitus |
| Disease ID | Disease Name |
|---|---|
| ORPHA:90795 |
|
| OMIM:202010 |
|
| OMIM:103900 |
|
| ORPHA:403 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002086
- Gene Name
- cytochrome P450, family 11, subfamily B, polypeptide 1
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 791124 | ZFIN:ZDB-GENE-070828-1 | ||
| 113574779 | ELEEL16006 | ||
| 100533461 | ORENI07604 | ||
| 115567999 | SPAAU59690 | ||
| 100082065 | ORNAN20967 | ||
| 100930767 | SARHA11406 | ||
| 100415304 | CALJA13590 | ||
| 100415667 | CALJA13590 | ||
| 105581188 | CERAT34205 | ||
| 102136659 | MACFA41707 |
