ATPase, Na+/K+ transporting, alpha 1

ATP1A1
Identifiers
Aliases ATP1A1, ATPase, Na+/K+ transporting, alpha 1
External IDs MGI: 88105 HomoloGene: 564 GeneCards: ATP1A1
Targeted by Drug
deslanoside, digitoxin, digoxin[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

476

11928

Ensembl

ENSG00000163399

ENSMUSG00000033161

UniProt

P05023
Q5TC02

Q8VDN2

RefSeq (mRNA)

NM_000701
NM_001001586
NM_001160233
NM_001160234

NM_144900

RefSeq (protein)

NP_000692.2
NP_001153705.1
NP_001153706.1

NP_659149.1

Location (UCSC) Chr 1: 116.37 – 116.41 Mb Chr 3: 101.58 – 101.6 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse
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 PF09040
InterPro IPR015127

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.[4]

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.[4]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[5]

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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