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Description for Protein CYP11B1

cytochrome P450, family 11, subfamily B, polypeptide 1
1 total 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 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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.15.4
    KEGG - Orthology:
    K00497
    KEGG - Pathway(s):
    hsa00140; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Steroid 11-beta-hydroxylase; Cytochrome p450 XIB1; CPN1; FHI; CYP11B; P450C11; FLJ36771; DKFZp686B05283; Cytochrome P450, family 11, subfamily B, polypeptide 1; Steroid 11-beta-monooxygenase; Cytochrome P450 11B1, mitochondrial; EC 1.14.15.4; S11BH; Cytochrome P450, family 11, subfamily B, polypeptide 1 isoform 1 precursor; Cytochrome P450, family 11, subfamily B, polypeptide 1 isoform 2 precursor
    Approved Symbol:
    CYP11B1
    (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):

  • Metyrapone(db);
  • Mitotane(db)

    Associated Genetic Diseases:

  • Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency(Pd);
  • Glucocorticoid-remediable aldosteronism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01943 Entrez Gene ID: 1584 OMIM ID: 610613 Swissprot Accession: P15538; Q8TDD0; Q4VAQ9;