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Description for Protein PKP1

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
9 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 2)
Summary:
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ARM: Armadillo/beta-catenin-like repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10387
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    B6P; Band-6-protein; Plakophilin 1 isoform 1b; Plakophilin 1 isoform 1a
    Approved Symbol:
    PKP1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 15
    Human (de-) phosphorylation sites: 15; 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:

  • Ectodermal dysplasia/skin fragility syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03579 Entrez Gene ID: 5317 OMIM ID: 601975 Swissprot Accession: Q13835;