CYP11B1
Cytochrome P450 11B1, mitochondrial
Also known as: C11B1_HUMAN, CPN1, CYP11B, FHI, P450C11
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15538
- Gene
- CYP11B1
- Ensembl
- ENSG00000160882
- Chromosome
- 8
- Canonical length
- 503 aa
- Protein class
- Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
503 residues, UniProt reviewed canonical sequence.
>P15538|CYP11B1
1 MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
61 YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR
121 QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA
181 RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM
241 PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
301 PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT
361 ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP
421 ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED
481 IKMVYSFILR PSMFPLLTFR AINLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CYP11B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 3,345 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 3,345 nTPM
- testis: 3.9 nTPM
- cerebellum: 3 nTPM
- salivary gland: 1.1 nTPM
- appendix: 0.9 nTPM
- kidney: 0.7 nTPM
Single-cell type
- adrenal cortex cells: 2,302 nCPM
- late spermatids: 139 nCPM
- early spermatids: 59 nCPM
- adrenal medulla cells: 32 nCPM
- late primary spermatocytes: 31 nCPM
- leydig cells: 0.5 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 1.5 nTPM
- choroid plexus: 1.3 nTPM
- hippocampal formation: 1 nTPM
- medulla oblongata: 0.6 nTPM
- cerebral cortex: 0.5 nTPM
- midbrain: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CYP11B1.
Disease | AllUniProt
Conditions CYP11B1 is implicated in, by any mechanism.
- Adrenal hyperplasia 4 (AH4) MIM:202010
- Hyperaldosteronism, familial, 1 (HALD1) MIM:103900
Disease | GeneticClinVar
198 pathogenic / likely-pathogenic of 977 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Deficiency of steroid 11-beta-monooxygenase
- Glucocorticoid-remediable aldosteronism
- Congenital adrenal hyperplasia
- CYP11B1-related disorder
- Differences in sex development
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.96
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.56
- DepMap mean gene effect
- 0.18
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aldosterone biosynthetic process
- C21-steroid hormone biosynthetic process
- cellular response to hormone stimulus
- cellular response to peptide hormone stimulus
- cellular response to potassium ion
- cholesterol metabolic process
- cortisol biosynthetic process
- cortisol metabolic process
- glucocorticoid biosynthetic process
- glucose homeostasis
- immune response
- regulation of blood pressure
- sterol metabolic process
Molecular functions
- corticosterone 18-monooxygenase activity
- heme binding
- iron ion binding
- steroid 11-beta-monooxygenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CYP11B1 as an antibody target. Whether an autoantibody or antibody against CYP11B1 could matter depends on whether native CYP11B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CYP11B1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CYP11B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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