ATP1A3

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.

Full Name

ATPase Na+/K+ Transporting Subunit Alpha 3

Function

This 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.

Biological Process

Cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
Cellular potassium ion homeostasis Source: BHF-UCL
Cellular response to amyloid-beta Source: ARUK-UCL
Cellular response to steroid hormone stimulus Source: BHF-UCL
Cellular sodium ion homeostasis Source: BHF-UCL
Ion transmembrane transport Source: Reactome
Neuron projection maintenance Source: ARUK-UCL
Potassium ion import across plasma membrane Source: BHF-UCL
Proton transmembrane transport Source: GO_Central
Regulation of cardiac conduction Source: Reactome
Regulation of resting membrane potential Source: ARUK-UCL
Response to glycoside Source: BHF-UCL
Sodium ion export across plasma membrane Source: BHF-UCL

Cellular Location

Cell membrane

Involvement in disease

Dystonia 12 (DYT12): 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.
Alternating hemiplegia of childhood 2 (AHC2): 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.
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): 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.

Topology

Cytoplasmic: 1-77 aa
Helical: 78-98 aa
Extracellular: 99-121 aa
Helical: 122-142 aa
Cytoplasmic: 143-278 aa
Helical: 279-298 aa
Extracellular: 299-310 aa
Helical: 311-328 aa
Cytoplasmic: 329-762 aa
Helical: 763-782 aa
Extracellular: 783-792 aa
Helical: 793-813 aa
Cytoplasmic: 814-833 aa
Helical: 834-856 aa
Extracellular: 857-908 aa
Helical: 909-928 aa
Cytoplasmic: 929-941 aa
Helical: 942-960 aa
Extracellular: 961-975 aa
Helical: 976-996 aa
Cytoplasmic: 997-1013 aa