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Description for Protein PRNP

prion protein
33 total interacting proteins; 21 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 4/0)
(membrane: 2; platelet: 2)
Summary:
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. Alternative splicing results in multiple transcript variants encoding the same protein. [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:
    K05634
    KEGG - Pathway(s):
    hsa05020
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Prion protein preproprotein; CJD; GSS; PrPc; MGC26679; PrP27-30; PrP33-35C; CD230 antigen; PRP; Prion related protein; PRIP; ASCR; CD230
    Approved Symbol:
    PRNP
    (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):

  • Tetracycline(db)

    Associated Genetic Diseases:

  • Creutzfeldt-Jakob disease(Pd);
  • Creutzfeldt-Jakob disease, protection against(Pd);
  • Fatal familial insomnia(Pd);
  • Gerstmann-Straussler disease(Pd);
  • Prion disease, susceptibility to(Pd);
  • Spongiform encephalopathy with neuropsychiatric features(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 2
  • Isoform 4 : 2
  • Isoform 3 : 2
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 01453 Entrez Gene ID: 5621 OMIM ID: 176640 Swissprot Accession: P04156; Q53YK7;