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Atp1a1

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Atp1a1

ATPase, Na+/K+ transporting, alpha 1 polypeptide
PDB rendering based on 1mo7.
Available structures
PDB Ortholog search: RCSB
Identifiers
3.6.3.9
RNA expression pattern
Gastric H+/K+-ATPase, N terminal domain
tfe-induded structure of the n-terminal domain of pig gastric h/k-atpase
Identifiers
Symbol H-K_ATPase_N
Pfam InterPro IPR015127

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

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.[1]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[2]

Clinical relevance

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

References

Further reading


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