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Description for Protein DMPK

dystrophia myotonica-protein kinase
13 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • CC: Coiled Coil
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.1
    KEGG - Orthology:
    K08788
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    DM kinase; DMK; DM protein kinase; Myotonin protein kinase; MTPK; Myotonic dystrophy protein kinase isoform 3; Myotonic dystrophy protein kinase isoform 4; Myotonic dystrophy protein kinase isoform 1; Myotonic dystrophy protein kinase isoform 2
    Approved Symbol:
    DMPK
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 50
    Human phosphorylation targets: 2; Predicted platelet targets: 48
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 3-[1-(3-Aminopropyl)-1h-Indol-3-Yl]-4-(1-Methyl-1h-Indol-3-Yl)-1h-Pyrrole-2,5-Dione(db)

    Associated Genetic Diseases:

  • Myotonic dystrophy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05645 Entrez Gene ID: 1760 OMIM ID: 605377 Swissprot Accession: Q09013;