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FLASH GENE
Symbol ATP1A3 contributors: mct/npt - updated : 05-10-2016
HGNC name ATPase, Na+/K+ transporting, alpha 3 polypeptide
HGNC id 801
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Nervousgangliasensory gangliadorsal root   Homo sapiens
 nerve   specific Homo sapiens
 spinal cordposterior horn    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiacmyocardium  Homo sapiens
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion lymph
at STAGE
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,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
  • 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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS