ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

Gene Basic Information

Gene Basic Information

symbol
ATP1A3
locus group
protein-coding gene
location
19q13.2
gene_family
P-type ATPases
alias symbol
-
alias name
sodium/potassium-transporting ATPa…
entrez id
478
ensembl gene id
ENSG00000105409
ucsc gene id
uc010xwh.4
refseq accession
NM_152296
hgnc_id
HGNC:801
approved reserved
1986-01-01

Chromosome Location

Chromosome Location

19q13.2

Gene Summary

Gene Summary

ChineseEnglish

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM entry for ATP1A3     Wikipedia entry for ATP1A3

Gene Sequence

Gene Sequence

Nucleotide sequence of ATP1A3:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE
41VCRKYNTDCV QGLTHSKAQE ILARDGPNAL TPPPTTPEWV
81 KFCRQLFGG FSILLWIGAI LCFLAYGIQA GTEDDPSGDN
121LYLGIVLAAV VIITGCFSYY QEAKSSKIME SFKNMVPQQA
161L VIREGEKM QVNAEEVVVG DLVEIKGGDR VPADLRIISA
201HGCKVDNSSL TGESEPQTRS PDCTHDNPLE TRNITFFSTN
241CV EGTARGV VVATGDRTVM GRIATLASGL EVGKTPIAIE
281IEHFIQLITG VAVFLGVSFF ILSLILGYTW LEAVIFLIGI
321IVA NVPEGL LATVTVCLTL TAKRMARKNC LVKNLEAVET
361LGSTSTICSD KTGTLTQNRM TVAHMWFDNQ IHEADTTEDQ
401SGTS FDKSS HTWVALSHIA GLCNRAVFKG GQDNIPVLKR
441DVAGDASESA LLKCIELSSG SVKLMRERNK KVAEIPFNST
481NKYQL SIHE TEDPNDNRYL LVMKGAPERI LDRCSTILLQ
521GKEQPLDEEM KEAFQNAYLE LGGLGERVLG FCHYYLPEEQ
561FPKGFA FDC DDVNFTTDNL CFVGLMSMID PPRAAVPDAV
601GKCRSAGIKV IMVTGDHPIT AKAIAKGVGI ISEGNETVED
641IAARLNI PV SQVNPRDAKA CVIHGTDLKD FTSEQIDEIL
681QNHTEIVFAR TSPQQKLIIV EGCQRQGAIV AVTGDGVNDS
721PALKKADI G VAMGIAGSDV SKQAADMILL DDNFASIVTG
761VEEGRLIFDN LKKSIAYTLT SNIPEITPFL LFIMANIPLP
801LGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR
841TDKLVNERLI SMAYGQIGMI QALGGFFSYF VILAENGFLP
881GNLVGIRLNW DDRTVNDLE DSYGQQWTYE QRKVVEFTCH
921TAFFVSIVVV QWADLIICKT RRNSVFQQGM KNKILIFGLF
961EETALAAFLS Y CPGMDVAL RMYPLKPSWW FCAFPYSFLI
1001FVYDEIRKLI LRRNPGGWVE KETYY
Structure predicted by AlphaFold DB(UniProt: P13637). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of ATP1A3:           Showing partial SNPs
rs919390       rs2217342       rs2288507       rs2288508       rs2317633       rs2317634       rs3206844       rs3206845       rs3760641       rs4306638       rs4803517       rs4803520       rs7252260       rs7257980       rs7507660       rs8101246       rs8106625      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CACTTCATCCAGCTCATCAC
59
AGAGGATGAAGAAGGAGACAC
59
GATGACAAGGACTCACCCA
59
TGTGCTCTGTCATAGCCAC
60
CTTCATCCAGCTCATCACC
58
GGAGAGGATGAAGAAGGAGAC
59
CTCACCCAAGAAGAACAAGG
59
CATCTTGTGCTCTGTCATAGC
59
TTCATCCTCTCCCTCATTCTC
59
TGCCGATGAGGAAGATGAC
60
CTCACCCAAGAAGAACAAGG
59
ATCTTGTGCTCTGTCATAGC
58

Gene Ontology

Subcellular localization of ATP1A3 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for ATP1A3:

GO ID
Protein
Source DB
GO:0005391
A0A0A0MT26 (UniProtKB)
IEA
GO:0005524
A0A0A0MT26 (UniProtKB)
IEA
GO:0006813
A0A0A0MT26 (UniProtKB)
IEA
GO:0006814
A0A0A0MT26 (UniProtKB)
IEA
GO:0010248
A0A0A0MT26 (UniProtKB)
IEA
GO:0016021
A0A0A0MT26 (UniProtKB)
IEA
GO:0046872
A0A0A0MT26 (UniProtKB)
IEA
GO:0090662
A0A0A0MT26 (UniProtKB)
IEA
GO:0005524
M0QXF2 (UniProtKB)
IEA
GO:0016021
M0QXF2 (UniProtKB)
IEA
GO:0016787
M0QXF2 (UniProtKB)
IEA
GO:0046872
M0QXF2 (UniProtKB)
IEA
GO:0005391
M0R116 (UniProtKB)
IEA
GO:0005524
M0R116 (UniProtKB)
IEA
GO:0006813
M0R116 (UniProtKB)
IEA
GO:0006814
M0R116 (UniProtKB)
IEA
GO:0010248
M0R116 (UniProtKB)
IEA
GO:0016021
M0R116 (UniProtKB)
IEA
GO:0046872
M0R116 (UniProtKB)
IEA
GO:0090662
M0R116 (UniProtKB)
IEA
GO:0005391
P13637 (UniProtKB)
IDA
GO:0005391
P13637 (UniProtKB)
IMP
GO:0005524
P13637 (UniProtKB)
NAS
GO:0005634
P13637 (UniProtKB)
IEA
GO:0005783
P13637 (UniProtKB)
IDA
GO:0005794
P13637 (UniProtKB)
IDA
GO:0005886
P13637 (UniProtKB)
IDA
GO:0005886
P13637 (UniProtKB)
TAS
GO:0005890
P13637 (UniProtKB)
IDA
GO:0005890
P13637 (UniProtKB)
IC
GO:0006883
P13637 (UniProtKB)
IDA
GO:0007613
P13637 (UniProtKB)
IEA
GO:0008344
P13637 (UniProtKB)
IEA
GO:0008542
P13637 (UniProtKB)
IEA
GO:0010107
P13637 (UniProtKB)
IDA
GO:0010248
P13637 (UniProtKB)
IEA
GO:0015991
P13637 (UniProtKB)
IBA
GO:0016021
P13637 (UniProtKB)
NAS
GO:0030007
P13637 (UniProtKB)
IDA
GO:0030424
P13637 (UniProtKB)
IEA
GO:0031748
P13637 (UniProtKB)
IEA
GO:0034220
P13637 (UniProtKB)
TAS
GO:0035235
P13637 (UniProtKB)
IEA
GO:0036376
P13637 (UniProtKB)
IDA
GO:0042383
P13637 (UniProtKB)
IEA
GO:0042493
P13637 (UniProtKB)
IEA
GO:0043209
P13637 (UniProtKB)
IEA
GO:0043209
P13637 (UniProtKB)
IEA
GO:0043395
P13637 (UniProtKB)
IEA
GO:0044326
P13637 (UniProtKB)
IEA
GO:0044327
P13637 (UniProtKB)
IEA
GO:0045202
P13637 (UniProtKB)
ISS
GO:0046872
P13637 (UniProtKB)
IEA
GO:0051087
P13637 (UniProtKB)
IPI
GO:0051087
P13637 (UniProtKB)
IPI
GO:0051087
P13637 (UniProtKB)
IPI
GO:0060048
P13637 (UniProtKB)
IEA
GO:0071383
P13637 (UniProtKB)
NAS
GO:0086036
P13637 (UniProtKB)
IEA
GO:0086037
P13637 (UniProtKB)
IEA
GO:0086064
P13637 (UniProtKB)
TAS
GO:1903416
P13637 (UniProtKB)
NAS
GO:1903561
P13637 (UniProtKB)
IDA
GO:1903779
P13637 (UniProtKB)
TAS
GO:1990239
P13637 (UniProtKB)
NAS

Related microRNA

Related microRNA

microRNAs potentially regulating ATP1A3:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
DYSTONIA 12 0.487328931 28 16 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
CAPOS syndrome 0.360542884 2 1 BeFree_CLINVAR_ORPHANET_UNIPROT
Alternating hemiplegia of childhood 0.245700279 21 3 BeFree_CTD_human_ORPHANET
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 0.24 2 32 CLINVAR_UNIPROT
Dystonia 0.126253095 13 0 BeFree_CTD_human_LHGDN
Parkinsonian Disorders 0.125167327 9 0 BeFree_CTD_human_LHGDN
Ventricular Dysfunction, Left 0.12 1 0 CTD_human
Heart failure 0.12 1 0 CTD_human
Degenerative polyarthritis 0.12 1 0 CTD_human
Bipolar Disorder 0.005276948 3 0 BeFree_GAD

Related Publications

Related Publications

D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload.
Bidzimou MK, Muralidharan P, Zhang Z, Raza D, Needs D, Sun B, Perelli RM, Moya-Mendez ME, Manivannan PKR, Hunanyan AS, Helfer A, Simmons CQ, George AL, Bers DM, Bursac N, Mikati MA, Landstrom AP JCI Insight 2026-04-08
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.
Bernardi K, Zhou A, Yang K, Rong J, Quiroz V, Alecu JE, Agianda HAP, Schmidt HJD, Tam A, Carty S, Espasandin-Hueter N, Macaya A, Stamelou M, Pringsheim T, Means M, Lakhotia A, Blackburn J, Zea Vera A, Becker LF, Brüggemann N, Münchau A, Seliverstov Y, Vogt L, Gorodetsky C, Levine JM, Runco AD, Calame DG, Dai L, Ding C, Ebrahimi-Fakhari D Mov Disord IF: 7.7 2026-05-00
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
Quiroz V, Alecu JE, Zubair U, Bernardi K, Zaman Z, Rong J, Tam A, Kunta A, Agianda HAP, Battaglia N, Schmidt HJD, Resch D, Wyman N, Vogt LM, Uraba WB, Becker LF, Kothur K, Gill D, Suarez B, Jofre JI, Arias C, Castiglioni C, da Silva Möller PD, Pinto Duarte AF, Eggers-Lisboa A, Ríos-Pohl L, Gonzalez-Ubilla M, Chaudhari C, Salazar-Villacorta A, Tian X, Dai L, Ding C, Zamani M, Nourbakhsh P, Shariati G, Pringsheim T, Lim WK, Bartolini E, Stamelou M, Bhatia P, Kruer MC, Desai S, Iype M, Necpál J, Crosiers D, Jones HF, Perez-Sanchez JR, Unal ED, Lopez-Ariztegui N, Kola S, Lin WS, Mansour AH, Triki CC, Fernandez-Alvarez E, Roze E, Sahu JK, Doja A, Nardocci N, Caputo D, Koy A, Bhate S, Kaliakatsos M, Robinson R, Hassell J, Pons R, Munchau A, Soliani L, Zea-Vera A, Tochen L, Morales-Briceño H, Dale RC, D'Gama A, Loddenkemper T, Pearl PL, Mohammad SS, Kurian MA, Gorodetsky C, Ortigoza-Escobar JD, Schierbaum L, Yang K, Ebrahimi-Fakhari D Brain IF: 12.6 2026-02-07
The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.
Kansal B, Roy Chowdhury S, Ganguly J, Singh R, Pemde HK, Sharma S Mov Disord Clin Pract IF: 3.4 2026-06-00
Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.
Leite JA, de Oliveira Barbosa LA, Woods RL, El-Mallakh RS Orphanet J Rare Dis IF: 3.507 2026-02-03
Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
Lim SM, Kim S, Park J, Kim YE, Na OC, Nahm M, Noh MY, Oh KW, Ki CS, Shin WH, Park HC, Kim SH J Transl Med IF: 3.786 2026-05-11
C. elegans models of Alternating Hemiplegia of Childhood have dominant neuromuscular junction defects.
Wall DA, Friedberg AM, Lins J, Khalifa R, Partipillo S, Hart AC bioRxiv 2026-04-26
Multifaceted neuroprotective role of Buchanania lanzan seeds in diabetic neuropathy: In vivo and in silico studies.
Meher N, Kisan B, Swain SK, Mohanty S, Sahoo AK J Ethnopharmacol IF: 6.8 2026-06-12
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.
Aida M, Ozawa J, Takahashi Y, Miyatake S, Watanabe K Eur Heart J Case Rep 2026-02-00
ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes.
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L Neurol Sci IF: 2.7 2026-05-19

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