Description: Homo sapiens ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), mRNA. (from RefSeq NM_000702) RefSeq Summary (NM_000702): 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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]. Gencode Transcript: ENST00000361216.8 Gencode Gene: ENSG00000018625.15 Transcript (Including UTRs) Position: hg38 chr1:160,115,759-160,143,591 Size: 27,833 Total Exon Count: 23 Strand: + Coding Region Position: hg38 chr1:160,115,862-160,141,322 Size: 25,461 Coding Exon Count: 23
ID:AT1A2_HUMAN DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-2; Short=Na(+)/K(+) ATPase alpha-2 subunit; EC=184.108.40.206; AltName: Full=Sodium pump subunit alpha-2; 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, 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: Composed of three subunits: alpha (catalytic), beta and gamma. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. DISEASE: Defects in ATP1A2 are the cause of familial hemiplegic migraine type 2 (FHM2) [MIM:602481]. FHM2 is a rare, severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis. DISEASE: Defects in ATP1A2 are a cause of alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]. AHC is typically distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. SEQUENCE CAUTION: Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A2";
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.
ModBase Predicted Comparative 3D Structure on P50993
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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:0001504 neurotransmitter uptake GO:0002026 regulation of the force of heart contraction GO:0002087 regulation of respiratory gaseous exchange by neurological system process GO:0006811 ion transport GO:0006813 potassium ion transport GO:0006814 sodium ion transport GO:0006883 cellular sodium ion homeostasis GO:0006937 regulation of muscle contraction GO:0006940 regulation of smooth muscle contraction GO:0006942 regulation of striated muscle contraction GO:0008217 regulation of blood pressure GO:0008344 adult locomotory behavior GO:0008542 visual learning GO:0010107 potassium ion import GO:0010248 establishment or maintenance of transmembrane electrochemical gradient GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0015991 ATP hydrolysis coupled proton transport GO:0019229 regulation of vasoconstriction GO:0030007 cellular potassium ion homeostasis GO:0035094 response to nicotine GO:0036376 sodium ion export from cell GO:0040011 locomotion GO:0045822 negative regulation of heart contraction GO:0045988 negative regulation of striated muscle contraction GO:0046034 ATP metabolic process GO:0051481 negative regulation of cytosolic calcium ion concentration GO:0051946 regulation of glutamate uptake involved in transmission of nerve impulse GO:0051966 regulation of synaptic transmission, glutamatergic GO:0055119 relaxation of cardiac muscle GO:0060048 cardiac muscle contraction GO:0071260 cellular response to mechanical stimulus GO:0071383 cellular response to steroid hormone stimulus GO:0086004 regulation of cardiac muscle cell contraction GO:0086009 membrane repolarization GO:0086012 membrane depolarization during cardiac muscle cell action potential GO:0086064 cell communication by electrical coupling involved in cardiac conduction GO:1903170 negative regulation of calcium ion transmembrane transport GO:1903280 negative regulation of calcium:sodium antiporter activity GO:1903416 response to glycoside GO:1990573 potassium ion import across plasma membrane