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ATP1A3 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. Defects in ATP1A3 are the cause of dystonia type 12 (DYT12); also known as rapid-onset dystonia parkinsonism (RDP). DYT12 is 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. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Note: This description may include information from UniProtKB.
Protein type: EC; Endoplasmic reticulum; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 19q13.2
Cellular Component: axon; cell soma; endoplasmic reticulum; Golgi apparatus; integral component of membrane; membrane; myelin sheath; nucleus; plasma membrane; sarcolemma; sodium:potassium-exchanging ATPase complex; synapse
Molecular Function: amyloid-beta binding; ATP binding; chaperone binding; D1 dopamine receptor binding; heparan sulfate proteoglycan binding; metal ion binding; sodium:potassium-exchanging ATPase activity
Biological Process: adult locomotory behavior; cardiac muscle contraction; cellular potassium ion homeostasis; cellular sodium ion homeostasis; cerebral cortex development; establishment or maintenance of transmembrane electrochemical gradient; ionotropic glutamate receptor signaling pathway; memory; potassium ion import; regulation of resting membrane potential; response to drug; visual learning
Disease: Alternating Hemiplegia Of Childhood 2; Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss; Dystonia 12
Reference #:  P13637 (UniProtKB)
Alt. Names/Synonyms: AT1A3; ATP1A3; ATPase, Na+/K+ transporting, alpha 3 polypeptide; DYT12; MGC13276; Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; Na+/K+ ATPase 3; RDP; sodium pump 3; Sodium pump subunit alpha-3; sodium-potassium-ATPase, alpha 3 polypeptide; sodium/potassium-transporting ATPase alpha-3 chain; Sodium/potassium-transporting ATPase subunit alpha-3
Gene Symbols: ATP1A3
Molecular weight: 111,749 Da
Basal Isoelectric point: 5.22  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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