Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[5][6]

AliasesATP1A3, AHC2, DYT12, RDP, CAPOS, ATPase Na+/K+ transporting subunit alpha 3, ATP1A1
External IDsOMIM: 182350 MGI: 88107 HomoloGene: 113729 GeneCards: ATP1A3
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.2Start41,966,582 bp[1]
End41,997,497 bp[1]
RNA expression pattern
More reference expression data









RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 19: 41.97 – 42 MbChr 7: 24.98 – 25.01 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse


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.[6]

Clinical significance

Disease causing variants of the ATP1A3 gene are known to cause:

1) Alternating hemiplegia of childhood (AHC).

2) Rapid onset dystonia parkinsonism (RDP, also known as DYT12).

3) Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS/CAOS syndrome).

4) Early infantile epileptic encephalopathy (EIEE).

5) Fever induced paroxysmal weakness and encephalopathy (FIPWE).

6) Recurrent episodes of cerebellar ataxia (RECA).

7) Very early-onset schizophrenia [7]

In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.[8]

This gene is the likely genetic cause of alternating hemiplegia of childhood.[9]


  1. GRCh38: Ensembl release 89: ENSG00000105409 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040907 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain. 130 (Pt 3): 828–35. doi:10.1093/brain/awl340. PMID 17282997.
  6. "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide".
  7. . PMID 27626066. Cite journal requires |journal= (help); Missing or empty |title= (help)
  8. Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC (August 2009). "Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS". Proc. Natl. Acad. Sci. U.S.A. 106 (33): 14085–90. Bibcode:2009PNAS..10614085C. doi:10.1073/pnas.0904817106. PMC 2729024. PMID 19666602.
  9. Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB (July 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nat Genet. 44 (9): 1030–4. doi:10.1038/ng.2358. PMC 3442240. PMID 22842232.

Further reading

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