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FLASH GENE
Symbol ATP6V1A contributors: mct/npt - updated : 01-07-2014
HGNC name ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
HGNC id 851
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , trimer , complex
HOMOLOGY
Homologene
FAMILY
  • ATPase alpha/beta chains family
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • ATP synthase H+ transporting, catalytic subunit of the peripheral V-1 complex of the vascular proton pump
  • 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 (Pietrement 2006)
  • may be involved in proton secretion in the olfactory epithelial (OE) cells and, as such, may be important for the pH homeostasis of the neuroepithelial mucous layer and/or for signal transduction in CO(2) detection
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of the heteromultimeric complex composed of a peripheral catalytic V1 complex attached toan integral V0 membrane pore complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • physical interaction between aldolase and vacuolar ATP6V1A is essential for the assembly and activity of the proton pump
  • RAB11B is a crucial regulator and RAB11FIP5 as mediator of acidosis-induced ATP6V1A traffic in duct cells of submandibular gland
  • interaction between WFS1 and ATP6V1A (proton pump) and this interaction may be important both for pump assembly in the ER and for granular acidification
  • WFS1 may be necessary for the stability of ATP6V1A and ATP1B1, but does not protect ATP6V1A and ATP1B1 from proteasome-mediated degradation
    • cell & other
    REGULATION
    Phosphorylated by by the metabolic sensor AMP-activated protein kinase (AMPK) in kidney cells
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCL4A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS