ATPase, Na+/K+ transporting, alpha 1

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Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.[5]

ATP1A1
Protein ATP1A1 PDB 1mo7.png
Identifiers
AliasesATP1A1, ATPase, Na+/K+ transporting, alpha 1, ATPase Na+/K+ transporting subunit alpha 1, CMT2DD, HOMGSMR2
External IDsMGI: 88105 HomoloGene: 564 GeneCards: ATP1A1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ATP1A1
Genomic location for ATP1A1
Band1p13.1Start116,372,668 bp[1]
End116,410,261 bp[1]
RNA expression pattern
PBB GE ATP1A1 220948 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000701
NM_001001586
NM_001160233
NM_001160234

NM_144900

RefSeq (protein)

NP_000692
NP_001153705
NP_001153706

NP_659149

Location (UCSC)Chr 1: 116.37 – 116.41 MbChr 3: 101.58 – 101.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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
SymbolH-K_ATPase_N
PfamPF09040
InterProIPR015127

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.[5]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[6]

Clinical relevanceEdit

Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension.[7]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163399 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033161 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide".
  6. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  7. ^ Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M (April 2013). "Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension". Nature Genetics. 45 (4): 440–4, 444e1–2. doi:10.1038/ng.2550. PMID 23416519.

Further readingEdit