Sodium Potassium ATPase ist ein Gen, das durch das Symbol ATP1A1 kodiert wird. Es ist auch bekannt als: Sodium/potassium-transporting ATPase subunit alpha-1; Na(+)/K(+) ATPase alpha-1 subunit; Sodium pump subunit alpha-1; ATP1A1. Sodium Potassium ATPase hat eine Masse von 112.9kDa, eine Aminosäurelänge von 1023, und ist an folgenden Krankheiten beteiligt: Charcot-Marie-Tooth disease 2DD; Hypomagnesemia, seizures, and mental retardation 2.
Wir bieten 15 antikörper gegen Sodium Potassium ATPase, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Charcot-Marie-Tooth disease 2DD: 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: 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.
Sequenzähnlichkeiten
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Posttranslationale Modifikation
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).
Zellort
Cell membrane > Sarcolemma. Melanosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
