ATP1A3

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ATPase, Na+/K+ transporting, alpha 3 polypeptide
Identifiers
Symbols ATP1A3 ; AHC2; DYT12; RDP
External IDs OMIM182350 MGI88107 HomoloGene113729 ChEMBL: 4052 GeneCards: ATP1A3 Gene
EC number 3.6.3.9
RNA expression pattern
PBB GE ATP1A3 214432 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 478 232975
Ensembl ENSG00000105409 ENSMUSG00000040907
UniProt P13637 Q6PIC6
RefSeq (mRNA) NM_001256213 NM_144921
RefSeq (protein) NP_001243142 NP_659170
Location (UCSC) Chr 19:
42.47 – 42.5 Mb
Chr 7:
24.98 – 25.01 Mb
PubMed search [1] [2]

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[1][2]

Function[edit]

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.[2]

Clinical significance[edit]

Mutations in ATP1A3 are often seen in rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.[citation needed]

In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.[3]

This gene is the likely genetic cause of alternating hemiplegia of childhood.[4]

References[edit]

  1. ^ Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau 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. 
  2. ^ a b "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide". 
  3. ^ 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. doi:10.1073/pnas.0904817106. PMC 2729024. PMID 19666602. 
  4. ^ Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, et al. (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[edit]

External links[edit]