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Description for Protein PQBP1

polyglutamine binding protein 1
13 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • WW: Domain with 2 conserved Trp (W) residues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12865
    KEGG - Pathway(s):
    hsa03040
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Nuclear protein containing WW domain 38 kD; NPW38; JM26 protein; SHS; MRX55; MRXS3; MRXS8; RENS1; Polyglutamine binding protein 1 isoform 2
    Approved Symbol:
    PQBP1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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:

  • Golabi-Ito-Hall syndrome(Pd);
  • Renpenning syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02354 Entrez Gene ID: 10084 OMIM ID: 300463 Swissprot Accession: O60828;