Sodium/potassium-transporting ATPase subunit alpha-3

UniProt P13637 Organism Homo sapiens Gene ATP1A3 EC 7.2.2.13

Also known as: ATP1A3

Function

Neuron-specific alpha catalytic component of the Na(+)/K(+)-transporting ATPase, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Transports 3 Na(+) ions out of the cell and 2 K(+) ions into the cell for each ATP hydrolyze against their electrochemical gradients to maintain ion concentration gradients across the membranes (By similarity). In the brain, ATP1A3 is critical for neuronal cell signaling and for maintenance of electrochemical stability, enabling cell excitation and action potential propagation.

Classification

Family (Pfam): PF13246 Cation_ATPase, PF00689 Cation_ATPase_C, PF00690 Cation_ATPase_N, PF00122 E1-E2_ATPase
InterPro: ATPase_P-typ_cation-transptr_C, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cyto_dom_N, ATPase_P-typ_P_site, ATPase_P-typ_TM_dom_sf, ATPase_P-typ_transduc_dom_A_sf, ATPase_P-type_domA, Cation_transp_ATPase_P-type, HAD-like_sf, HAD_sf, P-type_ATPase_IIC, P_typ_ATPase, P_typ_ATPase_HD_dom
Functional cluster: Oxidoreductases, Catalases & Peroxidases

Experimental structures · PDB · 5

8D3U EM 3.70A
8D3V EM 3.40A
8D3W EM 3.50A
8D3X EM 4.10A
8D3Y EM 3.90A

A predicted model is available from AlphaFold.

Gene Ontology · 32

Disease associations

dystonia 12 MONDO:0007496
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038
alternating hemiplegia of childhood 2 MONDO:0013900
developmental and epileptic encephalopathy 99 MONDO:0030473

Drugs targeting this protein · 6

DESLANOSIDE inhibitor
DIGOXIN inhibitor
ISTAROXIME inhibitor
DIGITOXIN inhibitor
ACETYLDIGITOXIN inhibitor
LANATOSIDE C inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium/potassium-transporting ATPase subunit alpha-2 3 shared papers
FXYD domain-containing ion transport regulator 6 1 shared papers
Sodium/potassium-transporting ATPase subunit alpha-1 2 shared papers
Potassium-transporting ATPase alpha chain 1 1 shared papers
Potassium-transporting ATPase alpha chain 2 1 shared papers
Forkhead box protein G1 1 shared papers
Protocadherin-19 1 shared papers
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A 1 shared papers
Potassium channel subfamily T member 1 1 shared papers
Cyclin-dependent kinase-like 5 1 shared papers
Syntaxin-binding protein 1 1 shared papers
Methyl-CpG-binding protein 2 1 shared papers

Literature · 20 cited papers

Structural basis for gating mechanism of the human sodium-potassium pump. Nat. Commun. · 2022
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain · 2021
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J. Med. Genet. · 2016
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. Biochim. Biophys. Acta · 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J. Rare Dis. · 2014
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS ONE · 2013
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. · 2012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat. Genet. · 2012
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology · 2009
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum. Mol. Genet. · 2009
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
… and 8 more in the literature graph

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