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Description for Protein APTX

aprataxin
17 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 member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene. (PubMed Links)
Domains and Motifs:
  • ZNFC2: zinc finger
  • FHA: Forkhead associated domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.-.-.-
    KEGG - Orthology:
    K10863
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    AOA; AOA1; AXA1; EAOH; EOAHA; FHA HIT; FLJ20157; MGC1072; Ataxia 1 early onset with hypoalbuminemia; Forkhead associated domain histidine triad like protein; Aprataxin isoform a; Aprataxin isoform b; Aprataxin isoform c; Aprataxin isoform d
    Approved Symbol:
    APTX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; 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:

  • Ataxia, adult-onset, with oculomotor apraxia(Pd);
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05892 Entrez Gene ID: 54840 OMIM ID: 606350 Swissprot Accession: Q7Z2E3; Q5T782; Q6JV85;