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FLASH GENE
Symbol ATP6V0A1 contributors: mct/npt/pgu - updated : 12-06-2024
HGNC name ATPase, H+ transporting, lysosomal V0 subunit a1
HGNC id 865
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
Homologene
FAMILY
  • V-ATPase 116 kDa subunit family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • ATPase H+ transporting, non catalytic accessory protein, vacuolar proton pump 1
  • in the epididymis and vas deferens, the vacuolar H(+)ATPase (V-ATPase), located in the apical pole of narrow and clear cells, is required to establish an acidic luminal pH and also participates in the acidification of intracellular organelles
  • ATP6V0A1, ATP6V0A2 cooperatively regulate the acidification and transmitter uptake/storage of dense-core vesicles, whereas they might not be as critical for exocytosis
  • transport protons across cellular membranes to acidify various organelles
  • essential roles of ATP6V0A1 in neuronal development in terms of integrity and connectivity of neurons
  • is a regulator of peripheral metabolic memory, providing a potential target for regulation of food intake, weight loss maintenance and the treatment of obesity
  • is involved in the exocytosis pathway, especially in vesicular transport in neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text hydrogen ion transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • interact with vacuolar type H+-ATPase (ATP6V0A1) which pumps
  • protons at the osteoclast-bone interface
  • NGF-induced upregulation of CALCA in orofacial pain induced by tooth movement is dependent on ATP6V0A1, and vesicle release (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEE104 , NEDEBA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • global knockout of ATP6V0A1 in mice causes embryonic lethality, whereas pyramidal neuron-specific knockout resulted in neuronal cell death with impaired spatial and learning memory