ATP1A1 : ATPase Na+/K+ transporting subunit alpha 1
Description
The ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) is a protein-coding gene located on chromosome 1.
The ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump known as a Na+/K+ ATPase. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells. Specifically, the protein pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells. Na+/K+ ATPases that include the alpha-1 subunit are found in many types of cells, although the pumps appear to play a particularly important role in the adrenal glands, which are small hormone-producing glands located on top of each kidney. In the adrenal glands, the flow of sodium and potassium ions helps regulate the production of the hormone aldosterone, which controls blood pressure by maintaining proper salt and fluid levels in the body.
The ATP1A1 gene product, the alpha-1 subunit of the Na+/K+ ATPase, is the catalytic component of this active enzyme. It catalyzes the hydrolysis of ATP, coupling this process with the exchange of sodium and potassium ions across the plasma membrane. This action establishes an electrochemical gradient of sodium and potassium ions, providing energy for the active transport of various nutrients. Additionally, the alpha-1 subunit may play a role in an osmosensory signaling pathway, sensing body-fluid sodium levels and regulating salt intake behavior and voluntary water intake to maintain sodium homeostasis.
ATP1A1 is also known as CMT2DD, HOMGSMR2.
Associated Diseases
- Charcot-Marie-Tooth disease, axonal, type 2DD
- Hypomagnesemia, seizures, and mental retardation 2
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Charcot-Marie-Tooth disease
- Aldosterone-producing adenoma
