Aliases for ATP1A3 Gene
- ATPase Na+/K+ Transporting Subunit Alpha 3 2 3 5
- Sodium Pump Subunit Alpha-3 2 3 4
- Sodium/Potassium-Transporting ATPase Subunit Alpha-3 2 3
- Sodium-Potassium ATPase Catalytic Subunit Alpha-3 2 3
- ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide 2 3
- Na(+)/K(+) ATPase Alpha(III) Subunit 3 4
- Na(+)/K(+) ATPase Alpha-3 Subunit 3 4
- Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 3
- Sodium/Potassium-Transporting ATPase Alpha-3 Chain 3
- Sodium-Potassium-ATPase, Alpha 3 Polypeptide 3
External Ids for ATP1A3 Gene
Previous HGNC Symbols for ATP1A3 Gene
Previous GeneCards Identifiers for ATP1A3 Gene
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]
GeneCards Summary for ATP1A3 Gene
ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia 12 and Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ENSG00000285505.
UniProtKB/Swiss-Prot for ATP1A3 Gene
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.
The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.