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Gene : ATP1A1 Homo sapiens

Name  ? ATPase Na+/K+ transporting subunit alpha 1 Cytological Location  1p13.1
Brief Description  ATPase Na /K transporting subunit alpha 1
Description  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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
  • synonyms:
  • CMT2DD,
  • ATP1A1,
  • HGNC:799,
  • sodium pump subunit alpha-1,
  • sodium-potassium ATPase catalytic subunit alpha-1,
  • D00099,
  • OTTHUMG00000012109,
  • sodium/potassium-transporting ATPase subunit alpha-1,
  • uc001ege.5,
  • NM_001160233,
  • HOMGSMR2,
  • ATPase, Na+/K+ transporting, alpha 1 polypeptide
  • identifiers:
  • 476,
  • ENSG00000163399,
  • ATP1A1

Genome feature

Region: gene ? Length: 37274  
Location: 1:116372986-116410259 Cyto location: 1p13.1


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

117 SN Ps

5 Cross References

19 Data Sets

15 Homologues

0 Located Features

97 Rna Seq Results