Aliases for ATP1B1 Gene
External Ids for ATP1B1 Gene
Previous HGNC Symbols for ATP1B1 Gene
Previous GeneCards Identifiers for ATP1B1 Gene
The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
GeneCards Summary for ATP1B1 Gene
ATP1B1 (ATPase, Na+/K+ Transporting, Beta 1 Polypeptide) is a Protein Coding gene. Diseases associated with ATP1B1 include megalencephalic leukoencephalopathy with subcortical cysts and thyrotoxic periodic paralysis. Among its related pathways are Hemostasis and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1B3.
UniProtKB/Swiss-Prot for ATP1B1 Gene
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane.
Involved in cell adhesion and establishing epithelial cell polarity.
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients across the plasma membrane.