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Description for Protein ATP13A2

ATPase type 13A2
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; platelet: 1)
Summary:
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13526
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    ATP13A2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Kufor-Rakeb syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 8
    13677_2(11)
    13677_1(11)
    • Additional Identifiers:

    HPRD: 13677 Entrez Gene ID: 23400 OMIM ID: 610513 Swissprot Accession: Q6S9Z9; Q9NQ11; Q5JXY1;