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Description for Protein PNKD

paroxysmal nonkinesigenic dyskinesia
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; platelet: 1)
Summary:
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MR1; PDC; DYT8; FPD1; BRP17; FKSG19; TAHCCP2; KIAA1184; KIPP1184; MGC31943; DKFZp564N1362; Myofibrillogenesis regulator 1; Brain protein 17; Trans-activated by hepatitis C virus core protein 2; Myofibrillogenesis regulator 1 isoform 1; Myofibrillogenesis regulator 1 isoform 2; Myofibrillogenesis regulator 1 isoform 3
    Approved Symbol:
    PNKD
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Paroxysmal nonkinesigenic dyskinesia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 2
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11369 Entrez Gene ID: 25953 OMIM ID: 609023 Swissprot Accession: Q8N490;