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Description for Protein CYP11A1

cytochrome P450, family 11, subfamily A, polypeptide 1
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.14.15.6
KEGG - Orthology:
K00498
KEGG - Pathway(s):
hsa00140; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
CYP11A; Cholesterol side chain cleavage enzyme; Cytochrome P450 side chain cleavage enzyme; Cytochrome P450SCC; Cytochrome P450C11A1; Cholesterol 20-22 desmolase; Cholesterol monooxygenase (side chain cleaving); Steroid 20-22-lyase; EC 1.14.15.6
Approved Symbol:
CYP11A1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Aminoglutethimide(db)

    Associated Genetic Diseases:

  • Adrenal insufficiency, congenital(Pd);
  • Adrenal insufficiency, congenital, with 46, XY sex reversal(Pd);
  • Lipoid congenital adrenal hyperplasia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00326 Entrez Gene ID: 1583 OMIM ID: 118485 Swissprot Accession: P05108;