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FLASH GENE
Symbol ATP1A3 contributors: mct/npt - updated : 29-05-2024
HGNC name ATPase, Na+/K+ transporting, alpha 3 polypeptide
HGNC id 801
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • E1-E2 ATPase
  • haloacid dehalogenase-like hydrolase domain
  • cation transporting ATPase
  • C-terminus domain, of the alpha-subunit having a crucial role in the function of the Na+/K+-ATPase and a key impact of Na+ affinity in the pathophysiology of DYT12 (Blanco-Arias 2009)
    • HOMOLOGY
    interspecies ortholog to rattus atp1a3
    ortholog to murine Atp1a3
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • type IIC subfamily
    • CATEGORY receptor , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    basic FUNCTION
  • osmotic balance and cell volume stability
  • neuronal receptor (for AGRN) activity
  • is a target for phosphorylation and may participate in short term regulation of neuronal function
  • role of ATP1A3 in the inhibitory synapse, and potential involvement of inhibitory synaptic dysfunction for the pathophysiology of dystonia
  • plays a crucial role in both physiological and pathological conditions in the brain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text Na+, K+ pump
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with ATP1B3 and maybe others
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • binding to ATP1B3
  • interacting with AGRN
  • ATP1A3 and ATP1B2 are binding partners of retinoschisin (predominant role of Na/K-ATPase in anchoring retinoschisin to retinal cell surfaces)
  • GPNMB promotes glioma growth via ATP1A1, ATP1A2, ATP1A3, ATP1A4
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT12 , AHC2 , CAPOS , DEE99
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyepilepsy 
    ATP1A3 regulators are putative targets for the rational design of antiepileptic therapie
    ANIMAL & CELL MODELS