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Description for Protein SETX

senataxin
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.1.-
    KEGG - Orthology:
    K10706
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KIAA0625; AOA2
    Approved Symbol:
    SETX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 18
    Human (de-) phosphorylation sites: 18; 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:

  • Amyotrophic lateral sclerosis 4, juvenile(Pd);
  • Ataxia-ocular apraxia 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07622 Entrez Gene ID: 23064 OMIM ID: 608465 Swissprot Accession: Q7Z333;