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Description for Protein CHRNE

cholinergic receptor, nicotinic, epsilon
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04817
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cholinergic receptor, nicotinic, epsilon polypeptide; Acetylcholine receptor, muscle, epsilon subunit; ACHRE
    Approved Symbol:
    CHRNE
    (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):

  • Galantamine(db)

    Associated Genetic Diseases:

  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency(Pd);
  • Myasthenic syndrome, congenital, fast-channel(Pd);
  • Myasthenic syndrome, fast-channel congenital(Pd);
  • Myasthenic syndrome, slow-channel congenital(Pd);
  • Myasthenic syndrome, slow-channel congenital, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 00008 Entrez Gene ID: 1145 OMIM ID: 100725 Swissprot Accession: Q04844;