ATP1A1

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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

ATPase Na+/K+ Transporting Subunit Alpha 1

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.

Cardiac muscle cell action potential involved in contraction Source: BHF-UCL
Cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
Cellular potassium ion homeostasis Source: BHF-UCL
Cellular response to mechanical stimulus Source: Ensembl
Cellular response to steroid hormone stimulus Source: BHF-UCL
Cellular sodium ion homeostasis Source: BHF-UCL
Ion transmembrane transport Source: Reactome
Membrane hyperpolarization Source: Ensembl
Membrane repolarization Source: BHF-UCL
Membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
Negative regulation of glucocorticoid biosynthetic process Source: Ensembl
Negative regulation of heart contraction Source: Ensembl
Positive regulation of heart contraction Source: Ensembl
Positive regulation of striated muscle contraction Source: Ensembl
Potassium ion import across plasma membrane Source: BHF-UCL
Proton transmembrane transport Source: GO_Central
Regulation of blood pressure Source: Ensembl
Regulation of cardiac conduction Source: Reactome
Regulation of cardiac muscle cell contraction Source: Ensembl
Regulation of sodium ion transport Source: UniProtKB
Regulation of the force of heart contraction Source: Ensembl
Relaxation of cardiac muscle Source: BHF-UCL
Response to drug Source: Ensembl
Response to glycoside Source: BHF-UCL
Sodium ion export across plasma membrane Source: BHF-UCL

Basolateral cell membrane; Sarcolemma; Axon; Melanosome. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Charcot-Marie-Tooth disease 2DD (CMT2DD): A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2): An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability.

Cytoplasmic: 6-87 aa
Helical: 88-108 aa
Extracellular: 109-131 aa
Helical: 132-152 aa
Cytoplasmic: 153-288 aa
Helical: 289-308 aa
Extracellular: 309-320 aa
Helical: 321-338 aa
Cytoplasmic: 339-772 aa
Helical: 773-792 aa
Extracellular: 793-802 aa
Helical: 803-823 aa
Cytoplasmic: 824-843 aa
Helical: 844-866 aa
Extracellular: 867-918 aa
Helical: 919-938 aa
Cytoplasmic: 939-951 aa
Helical: 952-970 aa
Extracellular: 971-985 aa
Helical: 986-1006 aa
Cytoplasmic: 1007-1023 aa

Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity).