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Description for Protein DSP

desmoplakin
28 total interacting proteins; 19 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 1; secretome: 1)
Summary:
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • PLEC: Plectin repeat
  • SPECTRIN: Spectrin repeat
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10381
    KEGG - Pathway(s):
    hsa05412
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Desmoplakin isoform II; Desmoplakin isoform I; 250 kDa paraneoplastic pemphigus antigen; DPI
    Approved Symbol:
    DSP
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 103
    Human (de-) phosphorylation sites: 103; 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:

  • Arrhythmogenic right ventricular dysplasia, familial, 8(Pd);
  • Dilated cardiomyopathy with woolly hair and keratoderma(Pd);
  • Epidermolysis bullosa, lethal acantholytic(Pd);
  • Keratosis palmoplantaris striata II(Pd);
  • Skin fragility-woolly hair syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00513 Entrez Gene ID: 1832 OMIM ID: 125647 Swissprot Accession: P15924;