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Description for Protein DOK7

docking protein 7
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 2)
Summary:
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PTB: Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain
  • PH: Pleckstrin homology domain.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Dok-7; C4orf25; FLJ33718; FLJ39137; FLJ90556; Downstream of tyrosine kinase 7; Protein Dok-7; Chromosome 4 open reading frame 25
    Approved Symbol:
    DOK7
    (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:

  • Myasthenia, limb-girdle, familial(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08744 Entrez Gene ID: 285489 OMIM ID: 610285 Swissprot Accession: Q18PE1;