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FLASH GENE
Symbol VAC14 contributors: mct - updated : 25-08-2016
HGNC name Vac14 homolog (S. cerevisiae)
HGNC id 25507
Corresponding disease
SNDC striatonigral degeneration, childhood-onset
Location 16q22.1      Physical location : 70.721.343 - 70.835.061
Synonym name Tax1 (human T-cell leukemia virus type I) binding protein 2
Synonym symbol(s) TAX1BP2, TRX, ArPIKfyve, FLJ10305, FLJ36622, MGC149815
DNA
TYPE functioning gene
STRUCTURE 113.00 kb     19 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 3107 - 782 - 2007 17556371
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon moderately
 liver   highly
Lymphoid/Immunethymus   highly
Reproductivefemale systemuteruscervix predominantly
 female systemovary  moderately
 male systemtestis  moderately
Skin/Tegumentskin   highly
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Nervousperipherous   
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • predominantly hydrophilic in its C-terminal region
  • HOMOLOGY
    interspecies ortholog to rattus Vac14
    homolog to murine Vac14
    Homologene
    FAMILY
    CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate
  • exerts an effect as a scaffold for the PI(3,5)P(2) regulatory complex by direct contact with the known regulators of PI(3,5)P(2): FIG4, PIKFYVE, VIPI1
  • might control FIG4 protein degradation
  • enhances FIG4 abundance by attenuating FIG4 proteasome-dependent degradation
  • essential role for the VAC14 homocomplex in controlling PtdIns(3,5)P2 levels
  • acts in a complex with the lipid kinase PIKFYVE and its counteracting phosphatase FIG4, regulating the interconversion of phosphatidylinositol-3-phosphate to phosphatidylinositol-3,5-bisphosphate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • with FIG4 and PIKFYVE, constitute a single multiprotein complex organized by the PIKFYVE regulator VAC14 and its ability to homodimerize
  • VAC14/PIKFYVE, a multimeric scaffolding adaptor protein coordinates synthesis and turnover of PtdIns(3,5)P2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Tax1
  • interaction between the PDZ domain of NOS1 and VAC14
  • VAC14, PI(3,5)P(2) and/or PI(5)P play a role in controlling postsynaptic function via regulation of endocytic cycling of AMPA receptors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SNDC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS