ATP2B1
Description
The ATP2B1 (ATPase plasma membrane Ca2+ transporting 1) is a protein-coding gene located on chromosome 12.
ATP2B1, also known as Plasma membrane calcium pump isoform 1, is a protein encoded by the ATP2B1 gene in humans. It is a calcium pump that transports calcium ions out of cells, playing a vital role in maintaining calcium balance within cells. This pump belongs to the P-type primary ion transport ATPases, characterized by their use of ATP and formation of an aspartyl phosphate intermediate during their function. Various isoforms of this enzyme are found in different tissues, suggesting its adaptation to the specific needs of various cells and tissues. Mutations in the ATP2B1 gene can lead to neurodevelopmental delays with mild to moderate intellectual impairments and speech delays. ATP2B1 also plays a critical role in the cytotoxicity caused by Chironex fleckeri stings, and blocking its function is being explored as a potential treatment for these stings.
ATP2B1 is a calcium pump that moves calcium from the cytoplasm to the extracellular space, maintaining proper calcium levels within cells. This activity is crucial for various functions, including blood pressure regulation, bone mineralization, and insulin sensitivity. In blood pressure regulation, ATP2B1 helps control vascular smooth muscle cell constriction by influencing calcium levels and nitric oxide production. For bone health, ATP2B1 aids in calcium absorption from the gut, supporting bone formation. In insulin regulation, it influences the activity of key signaling molecules, contributing to proper insulin sensitivity. Furthermore, ATP2B1 has roles in osteoclast differentiation and survival, and may be involved in synaptic transmission by controlling calcium and proton dynamics at synaptic vesicles.
ATP2B1 is also known as MRD66, PMCA1, PMCA1kb.
