ATPase, Na+/K+ transporting, alpha 1

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ATP1A1
Protein ATP1A1 PDB 1mo7.png
Identifiers
Aliases ATP1A1, ATPase, Na+/K+ transporting, alpha 1
External IDs MGI: 88105 HomoloGene: 564 GeneCards: 476
RNA expression pattern
PBB GE ATP1A1 220948 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
Gastric H+/K+-ATPase, N terminal domain
PDB 1iwc EBI.jpg
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.[3]

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.[3]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[4]

Clinical relevance[edit]

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

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide". 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading[edit]