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Description for Protein EBP

emopamil binding protein (sterol isomerase)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    5.3.3.5
    KEGG - Orthology:
    K01824
    KEGG - Pathway(s):
    hsa00100; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    3-beta hydroxysteroid delta-8, delta-7 isomerase; Cholestenol delta-isomerase; Delta8-delta7 sterol isomerase; D8-D7 sterol isomerase
    Approved Symbol:
    EBP
    (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):

    None Available

    Associated Genetic Diseases:

  • Chondrodysplasia punctata 2, X-linked dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 5
    • Additional Identifiers:

    HPRD: 02192 Entrez Gene ID: 10682 OMIM ID: 300205 Swissprot Accession: Q15125;