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Description for Protein ECE1

endothelin converting enzyme 1
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 4/2)
(alpha granules: 1; membrane: 1; platelet: 8; undefined: 1)
Summary:
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.24.71
    KEGG - Orthology:
    K01415
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ECE; EC 3.4.24.71
    Approved Symbol:
    ECE1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; 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):

  • 5-(2-hydroxyethyl)nonane-1,9-diol(db)

    Associated Genetic Diseases:

  • Hirschsprung disease, cardiac defects, and autonomic dysfunction(Pd);
  • Hypertension, essential, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02690 Entrez Gene ID: 1889 OMIM ID: 600423 Swissprot Accession: P42892; Q2Z2K8;