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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
Corresponding disease
AHC2 alternating hemiplegia of childhood 2
CAPOS cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome
DYT12 dystonia 12
Location 19q13.2      Physical location : 42.470.735 - 42.498.382
Synonym name
  • Na+/K+ ATPase 3
  • sodium/potassium-transporting ATPase alpha-3 chain
  • sodium pump subunit alpha-3
  • Synonym symbol(s) MGC13276, RDP, AHC2, ATP1A1, CAPOS, DYT12
    EC.number 3.6.1.37, 3.6.3.9
    DNA
    TYPE functioning gene
    STRUCTURE 27.69 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC283855 19q13.31 similar to tropomyosin 3 PLEKHA3P1 19 pleckstrin homology domain-containing, family A member 3 pseudogene 1 R29124_1 19q13.31 hypothetical protein R29124_1 CEACAMP3 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 CEACAM4 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 4 CEACAM7 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 7 CEACAM5 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 5 CEACAM6 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) CEACAM3 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 3 LOC388544 19 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) MGC42718 19q13.31 hypothetical protein MGC42718 DMRTC2 19q13.31 DMRT-like family C2 RPS19 19q13.2 ribosomal protein S19 CD79A 19q13.2-q13.3 CD79A antigen (immunoglobulin-associated alpha) ARHGEF1 19q13,13 Rho guanine nucleotide exchange factor (GEF) 1 LOC390937 19 similar to Erf RABAC1 19q13.13-q13.2 Rab acceptor 1 (prenylated) ATP1A3 19q13.2 ATPase, Na+/K+ transporting, alpha 3 polypeptide GRIK5 19q13.2 glutamate receptor, ionotropic, kainate 5 FLJ22059 19q13.31 hypothetical protein FLJ22059 POU2F2 19q13.31 POU domain, class 2, transcription factor 2 DEDD2 19q13.31 POU domain, class 2, transcription factor 2 KIAA1951 GSK3A 19q13.2 glycogen synthase kinase 3 alpha ERF 19q13.1 Ets2 repressor factor CIC 19q13.2 capicua homolog (Drosophila) PAFAH1B3 19q13.1 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3587 - 1013 - 2006 16630822
    23 - 3674 - 1026 - 2006 16630822
    23 - 3504 - 1024 - 2006 16630822
    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