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FLASH GENE
Symbol VPS13A contributors: mct/npt - updated : 27-11-2013
HGNC name vacuolar protein sorting 13 homolog A (S. cerevisiae)
HGNC id 1908
Corresponding disease
CHAC chorea-acanthocytosis
Location 9q21.2      Physical location : 79.792.360 - 80.032.397
Synonym name
  • vacuolar protein sorting 13A (yeast)
  • chorein
  • chorea acanthocytosis
  • Synonym symbol(s) KIAA0986, CHAC
    DNA
    TYPE functioning gene
    STRUCTURE 240.03 kb     72 Exon(s)
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    68 splicing 10103 - 3095 - 2012 22366033
  • lack 4 exons (69-73)
  • transcript variant B (exons 1–69)
  • 71 - 11260 360 3174 ubiquitous 2012 22366033
  • lack exon 69
  • transcript A (exons 1–68, 70–73
  • 71 - 11145 - 3135 - 2012 22366033
    72 - 10187 - 3069 - 2012 22366033
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly Homo sapiens
    Nervousbraindiencephalonamygdala highly Homo sapiens
     braindiencephalonhypothalamus highly Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    Respiratorylung    
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • coiled coil domain
  • ten TPR repeats
  • HOMOLOGY
    interspecies homolog to Arabidopsis VPS13L
    homolog to dictyostelium TIPC
    Homologene
    FAMILY
  • VPS13 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • located in dense-core vesicles (DCVs), which contain dopamine, and localized to Golgi apparatus
  • basic FUNCTION
  • control steps in the cycling of proteins
  • is a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis
  • is potentially involved in exocytosis of dense-core vesicles (DCVs)
  • a novel function of chorein, is the regulation of secretion and aggregation of blood platelets
  • is a novel regulator of cytoskeletal architecture, cell shape, mechanical stiffness and survival of vascular endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with beta-adducin (ADD2) and beta-actin (ACTB)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHAC
    Susceptibility to alcohol dependance (Gelernter 2009)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in ChAc model mouse, a deficiency in chorein function leads to apoptosis of striatal neurons