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Description for Protein CYP17A1

cytochrome P450, family 17, subfamily A, polypeptide 1
3 total interacting proteins; 2 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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.99.9
    KEGG - Orthology:
    K00512
    KEGG - Pathway(s):
    hsa00140; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    CYP17; P450C17; 17,20-lyase; Steroid 17 alpha monooxygenase; Steroid 17 alpha hydroxylase; Cytochrome p450 XVIIA1
    Approved Symbol:
    CYP17A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • NADH(db);
  • Progesterone(db)

    Associated Genetic Diseases:

  • 17,20-@lyase deficiency, isolated(Pd);
  • 17-@alpha-hydroxylase/17,20-lyase deficiency, combined complete(Pd);
  • 17-@alpha-hydroxylase/17,20-lyase deficiency, combined partial(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01944 Entrez Gene ID: 1586 OMIM ID: 609300 Swissprot Accession: P05093; Q1HB44;