CYP11A1

Protein identityUniProt · HPA

UniProt accession

P05108

Gene

CYP11A1

Ensembl

ENSG00000140459

Chromosome

15

Canonical length

521 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

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 catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

521 residues, UniProt reviewed canonical sequence.

>P05108|CYP11A1
     1  MLAKGLPPRS VLVKGCQTFL SAPREGLGRL RVPTGEGAGI STRSPRPFNE IPSPGDNGWL
    61  NLYHFWRETG THKVHLHHVQ NFQKYGPIYR EKLGNVESVY VIDPEDVALL FKSEGPNPER
   121  FLIPPWVAYH QYYQRPIGVL LKKSAAWKKD RVALNQEVMA PEATKNFLPL LDAVSRDFVS
   181  VLHRRIKKAG SGNYSGDISD DLFRFAFESI TNVIFGERQG MLEEVVNPEA QRFIDAIYQM
   241  FHTSVPMLNL PPDLFRLFRT KTWKDHVAAW DVIFSKADIY TQNFYWELRQ KGSVHHDYRG
   301  ILYRLLGDSK MSFEDIKANV TEMLAGGVDT TSMTLQWHLY EMARNLKVQD MLRAEVLAAR
   361  HQAQGDMATM LQLVPLLKAS IKETLRLHPI SVTLQRYLVN DLVLRDYMIP AKTLVQVAIY
   421  ALGREPTFFF DPENFDPTRW LSKDKNITYF RNLGFGWGVR QCLGRRIAEL EMTIFLINML
   481  ENFRVEIQHL SDVGTTFNLI LMPEKPISFT FWPFNQEATQ Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP11A1 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)

0.27

Highest tissue expression

991 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP11A1.

Disease | AllUniProt

Conditions CYP11A1 is implicated in, by any mechanism.

• Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) MIM:613743

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 440 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
• 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• Glioma susceptibility 1
• Congenital adrenal hyperplasia
• CYP11A1-related disorder

Disease | AutoantibodyPubMed

Conditions in which antibodies against CYP11A1 are reported. Each links to that disease's full target list.

• Addison Disease 6
• Polyendocrinopathies, Autoimmune 6

Showing 2 of 3 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for CYP11A1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.88

gnomAD pLI

0

gnomAD missense Z

0.77

DepMap mean gene effect

-0.14

DepMap dependency class

selective

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

• C21-steroid hormone biosynthetic process
• cellular response to peptide hormone stimulus
• cholesterol metabolic process
• cortisol metabolic process
• glucocorticoid biosynthetic process
• sterol metabolic process
• vitamin D metabolic process
• steroid hormone biosynthetic process

Molecular functions

• heme binding
• iron ion binding
• cholesterol monooxygenase (side-chain-cleaving) activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group I
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450, families 11 and 27
• Cytochrome P450

KeywordsUniProt

• Cholesterol metabolism
• Heme
• Iron
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Monooxygenase
• Oxidoreductase
• Steroid biosynthesis
• Steroid metabolism
• Steroidogenesis
• Sterol metabolism
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of CYP11A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FDX1