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Description for Protein ATN1

atrophin 1
96 total interacting proteins; 34 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • CC: Coiled Coil
  • NES: Nuclear Export Signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05626
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Dentatorubral pallidoluysian atrophy protein; D12S755E; DRPLA; B37; NOD
    Approved Symbol:
    ATN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 29
    Human (de-) phosphorylation sites: 29; 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:

  • Dentatorubral-pallidoluysian atrophy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06311 Entrez Gene ID: 1822 OMIM ID: 607462 Swissprot Accession: Q86V38; P54259;