ATPase, Na+/K+ transporting, alpha 1

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ATPase, Na+/K+ transporting, alpha 1 polypeptide
Protein ATP1A1 PDB 1mo7.png
PDB rendering based on 1mo7.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATP1A1 ; MGC3285; MGC51750
External IDs OMIM182310 MGI88105 HomoloGene564 ChEMBL: 1807 GeneCards: ATP1A1 Gene
EC number 3.6.3.9
RNA expression pattern
PBB GE ATP1A1 220948 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 476 11928
Ensembl ENSG00000163399 ENSMUSG00000033161
UniProt P05023 Q8VDN2
RefSeq (mRNA) NM_000701 NM_144900
RefSeq (protein) NP_000692 NP_659149
Location (UCSC) Chr 1:
116.92 – 116.95 Mb
Chr 3:
101.58 – 101.6 Mb
PubMed search [1] [2]
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.[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[edit]

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

References[edit]

  1. ^ a b "Entrez Gene: ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide". 
  2. ^ 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]