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Description for Protein ATXN3

ataxin 3
21 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • UIM: Ubiquitin-interacting motif.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.22.-
    KEGG - Orthology:
    K11863
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ATX3; MJD1; SCA3; Josephin; Spinocerebellar ataxia type 3 protein; Machado Joseph disease protein 1; AT3; JOS; MJD; Ataxin 3 isoform 1; Ataxin 3 isoform 2
    Approved Symbol:
    ATXN3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 31
    Human (de-) phosphorylation sites: 31; 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:

  • MaChado-joseph disease(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06131 Entrez Gene ID: 4287 OMIM ID: 607047 Swissprot Accession: P54252;