Human Gene ATP1A3 (ENST00000543770.5) from GENCODE V44
Description: Homo sapiens ATPase Na+/K+ transporting subunit alpha 3 (ATP1A3), transcript variant 2, mRNA. (from RefSeq NM_001256213) RefSeq Summary (NM_001256213): 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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Gencode Transcript: ENST00000543770.5 Gencode Gene: ENSG00000105409.19 Transcript (Including UTRs) Position: hg38 chr19:41,966,621-41,993,467 Size: 26,847 Total Exon Count: 23 Strand: - Coding Region Position: hg38 chr19:41,966,937-41,993,431 Size: 26,495 Coding Exon Count: 23
ID:AT1A3_HUMAN DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-3; Short=Na(+)/K(+) ATPase alpha-3 subunit; EC=3.6.3.9; AltName: Full=Na(+)/K(+) ATPase alpha(III) subunit; AltName: Full=Sodium pump subunit alpha-3; 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: Composed of three subunits: alpha (catalytic), beta and gamma. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. DISEASE: Defects in ATP1A3 are the cause of dystonia type 12 (DYT12) [MIM:128235]; also known as rapid-onset dystonia parkinsonism (RDP). DYT12 is an autosomal dominant dystonia- parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A3";
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 P13637
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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:0006811 ion transport GO:0006813 potassium ion transport GO:0006814 sodium ion transport GO:0006883 cellular sodium ion homeostasis GO:0010107 potassium ion import GO:0010248 establishment or maintenance of transmembrane electrochemical gradient GO:0030007 cellular potassium ion homeostasis GO:0036376 sodium ion export from cell GO:0060075 regulation of resting membrane potential GO:0071383 cellular response to steroid hormone stimulus GO:0086064 cell communication by electrical coupling involved in cardiac conduction GO:1903416 response to glycoside GO:1904646 cellular response to beta-amyloid GO:1990535 neuron projection maintenance
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