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Description for Protein GJA1

gap junction protein, alpha 1, 43kDa
19 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CNX: Connexin homologues

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07372
    KEGG - Pathway(s):
    hsa04540; hsa05412
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    GJAL; ODDD; DFNB38; Connexin 43; Gap junction 43 kDa heart protein; Gap junction protein, alpha 1; CX43
    Approved Symbol:
    GJA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 18
    Human (de-) phosphorylation sites: 18; 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):

  • Carvedilol(db)


    Associated Genetic Diseases:

  • Hypoplastic left heart syndrome(Pd);
  • Oculodentodigital dysplasia(Pd);
  • Syndactyly, type III(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 4
  • Additional Identifiers:

    HPRD: 00414 Entrez Gene ID: 2697 OMIM ID: 121014 Swissprot Accession: P17302