Description: Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA. RefSeq Summary (NM_000701): 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]. Transcript (Including UTRs) Position: hg19 chr1:116,915,795-116,947,396 Size: 31,602 Total Exon Count: 23 Strand: + Coding Region Position: hg19 chr1:116,916,134-116,947,066 Size: 30,933 Coding Exon Count: 23
ID:AT1A1_HUMAN DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-1; Short=Na(+)/K(+) ATPase alpha-1 subunit; EC=3.6.3.9; AltName: Full=Sodium pump subunit alpha-1; Flags: Precursor; FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. CATALYTIC ACTIVITY: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In). SUBUNIT: Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. PTM: Phosphorylation on Tyr-10 modulates pumping activity. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity). SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
hypertension Song, Y. et al. 2001, Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans., Journal of hypertension. 2001 Sep;19(9):1547-51.
[PubMed 11564973]
These data exclude a primary role of the TSC gene in hypertension pathogenesis in the hypertension cohorts studied.
hypertension Glorioso, N. et al. 2007, Association of ATP1A1 and Dear Single-Nucleotide Polymorphism Haplotypes With Essential Hypertension and Sex-Specific and Haplotype-Specific Effects, Circ Res 2007.
[PubMed 17446437]
Na/K ATPase activity Jannot, M. F. et al. 2002, Genetic and environmental regulation of Na/K adenosine triphosphatase activity in diabetic patients., Metabolism: clinical and experimental. 2002 Mar;51(3):284-91.
[PubMed 11887161]
Correlation observed between C-peptide levels and RBC's Na/K ATPase suggests that the deleterious effect of C peptide deficiency on Na/K ATPase activity is worse in the presence of the restriction site. This may explain the high relative risk of developing the neuropathy observed in type 1 diabetic patients bearing the variant allele.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 81653 - Calcium ATPase, transduction domain A 56784 - HAD-like 81660 - Metal cation-transporting ATPase, ATP-binding domain N 81665 - Calcium ATPase, transmembrane domain M
ModBase Predicted Comparative 3D Structure on P05023
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002026 regulation of the force of heart contraction GO:0002028 regulation of sodium ion transport GO:0006811 ion transport GO:0006813 potassium ion transport GO:0006814 sodium ion transport GO:0006883 cellular sodium ion homeostasis GO:0008217 regulation of blood pressure GO:0010107 potassium ion import GO:0010248 establishment or maintenance of transmembrane electrochemical gradient GO:0016311 dephosphorylation GO:0030007 cellular potassium ion homeostasis GO:0031947 negative regulation of glucocorticoid biosynthetic process GO:0036376 sodium ion export from cell GO:0042493 response to drug GO:0045822 negative regulation of heart contraction GO:0045823 positive regulation of heart contraction GO:0045989 positive regulation of striated muscle contraction GO:0055119 relaxation of cardiac muscle GO:0060081 membrane hyperpolarization GO:0071260 cellular response to mechanical stimulus GO:0071383 cellular response to steroid hormone stimulus GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086004 regulation of cardiac muscle cell contraction GO:0086009 membrane repolarization GO:0086013 membrane repolarization during cardiac muscle cell action potential GO:0086064 cell communication by electrical coupling involved in cardiac conduction GO:0090662 ATP hydrolysis coupled transmembrane transport GO:1903416 response to glycoside GO:1990573 potassium ion import across plasma membrane
US Server
