ATPase Transporting Beta 1, also known as ATP1B1, is a protein encoded by the ATP1B1 gene in humans. This protein is a crucial component of the sodium/potassium-transporting ATPase enzyme, which is essential for maintaining the electrochemical gradients of sodium and potassium ions across the plasma membrane. These gradients are vital for various physiological processes, including osmoregulation, sodium-coupled transport of organic and inorganic molecules, and electrical excitability of nerve and muscle cells .
The sodium/potassium-transporting ATPase enzyme is composed of two subunits: a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The ATP1B1 gene encodes the beta 1 subunit of this enzyme. The beta subunit plays a regulatory role by assembling alpha/beta heterodimers, which determine the number of sodium pumps transported to the plasma membrane .
The beta 1 subunit is a glycoprotein that is involved in the proper functioning of the sodium/potassium pump. This pump is responsible for actively transporting sodium ions out of the cell and potassium ions into the cell, thereby maintaining the necessary ion gradients. These gradients are crucial for various cellular functions, including maintaining cell volume, generating action potentials in neurons, and driving secondary active transport processes .
The ATP1B1 gene is located on chromosome 1 in humans. It belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins and to the subfamily of Na+/K±ATPases. The gene undergoes alternative splicing, resulting in different isoforms, although the biological validity of these isoforms is not fully understood .
Mutations or dysregulation of the ATP1B1 gene have been associated with various diseases. For instance, alterations in the ATP1B1 gene have been linked to essential hypertension and carnitine palmitoyltransferase II deficiency, infantile form. The protein’s role in maintaining ion gradients also implicates it in cardiac conduction and other physiological pathways .
Recombinant human ATP1B1 protein is produced using various expression systems, such as baculovirus-infected Sf21 cells. This recombinant protein is often used in research to study the function and regulation of the sodium/potassium pump. It is typically purified to high levels of purity and is suitable for various biochemical assays, including SDS-PAGE and functional studies .