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MGP000237

UniProt Annotations

Entry Information
Gene NameATPase, Na+/K+ transporting, alpha 3 polypeptide
Protein EntryAT1A3_HUMAN
UniProt IDP13637
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13637-1; Sequence=Displayed; Name=2; IsoId=P13637-2; Sequence=VSP_046956; Name=3; IsoId=P13637-3; Sequence=VSP_046957;
Catalytic ActivityATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
DiseaseAlternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269|PubMed:22842232, ECO:0000269|PubMed:22850527, ECO:0000269|PubMed:23409136}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO:0000269|PubMed:24468074}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO:0000269|PubMed:15260953, ECO:0000269|PubMed:19351654, ECO:0000269|PubMed:19652145}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
SimilarityBelongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:7711835}.
SubunitComposed of three subunits: alpha (catalytic), beta and gamma.
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