ATPase, Na+/K+ transporting, alpha 1

Sodium/potassium-transporting ATPase subunit alpha-1 is an is_associated_with::enzyme that in humans is encoded by the ATP1A1 is_associated_with::gene.

The is_associated_with::protein encoded by this gene belongs to the family of P-type cation transport is_associated_with::ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral is_associated_with::membrane protein responsible for establishing and maintaining the is_associated_with::electrochemical gradients of Na and K is_associated_with::ions across the is_associated_with::plasma membrane. These gradients are essential for is_associated_with::osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of is_associated_with::nerve and is_associated_with::muscle. This is_associated_with::enzyme is composed of two subunits, a large is_associated_with::catalytic subunit (alpha) and a smaller is_associated_with::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 is_associated_with::isoforms have been identified.

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.

Clinical relevance
Mutations in this gene have been associated with aldosterone-producing is_associated_with::adenomas and secondary is_associated_with::hypertension. (PMID 23416519).