ATPase, Na+/K+ transporting, alpha 1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.[5]
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. Alternatively spliced transcript variants encoding different isoforms have been identified.[5]
In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[6]
Clinical relevance
Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension.[7]
