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Description for Protein VPS13A

vacuolar protein sorting 13 homolog A (S. cerevisiae)
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 7)
Summary:
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CHAC; KIAA0986; Chorea acanthocytosis; Vacuolar protein sorting 13A; Vacuolar protein sorting 13A isoform A; Vacuolar protein sorting 13A isoform B; Vacuolar protein sorting 13A isoform C; Vacuolar protein sorting 13A isoform D
    Approved Symbol:
    VPS13A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; 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:

  • Choreoacanthocytosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05814 Entrez Gene ID: 23230 OMIM ID: 605978 Swissprot Accession: Q96RL7;