ATP10A


Description

The ATP10A (ATPase phospholipid transporting 10A (putative)) is a protein-coding gene located on chromosome 15.

ATP10A is a human gene that encodes a protein belonging to the P-type cation transport ATPases, specifically the aminophospholipid-transporting ATPases. These enzymes move phosphatidylserine and phosphatidylethanolamine across cell membranes. This gene is maternally expressed and located within a region commonly deleted in Angelman syndrome, also called 'happy puppet syndrome'.

ATP10A is the catalytic subunit of the P4-ATPase flippase complex, which uses ATP hydrolysis to move phosphatidylcholine (PC) from the outer to the inner layer of the plasma membrane. This activity triggers inward bending of the plasma membrane and attracts proteins like Bin/amphiphysin/Rvs (BAR) domain-containing proteins, facilitating membrane tube formation and cell trafficking. ATP10A also promotes the internalization of ITGB1/beta1 integrin, delaying cell adhesion and spreading on the extracellular matrix. It exhibits limited flippase activity towards glucosylceramide (GlcCer).

ATP10A is also known as ATP10C, ATPVA, ATPVC.

Associated Diseases


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