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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
Corresponding disease
ARCL4A cutis laxa, autosomal recessive, type IVA
Location 3q13.31      Physical location : 113.465.907 - 113.530.901
Synonym name
  • ATPase, H+ transporting, lysosomal (vacuolar and isoform 2
  • H+-transporting ATPase chain A, vacuolar (VA68 type)
  • vacuolar proton pump alpha subunit 1
  • V-ATPase A subunit 1
  • V-ATPase 69 kDa subunit
  • vacuolar ATP synthase catalytic subunit A, ubiquitous
    • isoform
    Synonym symbol(s) VPP2, ATP6A1, ATP6V1A1, Vma1, VA68, HO68
    EC.number 3.6.3.14
    DNA
    TYPE functioning gene
    STRUCTURE 65.04 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text not proved that the two isoforms be coded by the same gene
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 4607 - 617 osteoclastoma only (tissue specific) 2006 1619240
    also called HO68
    - - 4800 68.3 617 ubiquitous 2006 1619240
    also called VA68
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus  
    Olfactory (smell)olfactory bulb     Mus musculus
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Olfactoryepithelial cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text adrenal gland
    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