ATP1A1 gene

ATPase Na+/K+ transporting subunit alpha 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.

Mutations in the ATP1A1 gene have been found to cause aldosterone-producing adenomas, which are noncancerous (benign) tumors that form in the adrenal glands. The genetic changes involved in these tumors, called somatic mutations, are acquired during a person's lifetime and are present only in adrenal gland cells that give rise to the tumor. Changes in the ATP1A1 gene account for approximately six percent of cases of aldosterone-producing adenoma.

ATP1A1 gene mutations impair the Na+/K+ ATPase's normal function. The abnormal pumps allow sodium or hydrogen (H+) ions to enter the cell. The abnormal flow of these ions increases aldosterone production, resulting in excess aldosterone and leading to high blood pressure (hypertension) and an increased risk of heart attack and stroke. Changes in adrenal gland cells due to impaired Na+/K+ ATPase function also increase cell growth and division (proliferation), which promotes adenoma formation.

Genetics Home Reference provides information about Charcot-Marie-Tooth disease.

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1

Molecular Location: base pairs 116,372,986 to 116,410,259 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1
  • ATPase, Na+/K+ transporting, alpha 1 polypeptide
  • Na(+)/K(+) ATPase alpha-1 subunit
  • Na+/K+ ATPase 1
  • Na, K-ATPase, alpha-A catalytic polypeptide
  • Na,K-ATPase alpha-1 subunit
  • Na,K-ATPase catalytic subunit alpha-A protein
  • sodium-potassium ATPase catalytic subunit alpha-1
  • sodium-potassium-ATPase, alpha 1 polypeptide
  • sodium pump subunit alpha-1