phospholipid-transporting ATPase 5A; ATPase class 5 type 10A; aminophospholipid translocase VA (ATP10A, ATP10C, ATPVA, ATPVC, KIAA0566)
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Function
- role in the transport of phospholipids from the outer to the inner leaflet of various membranes & the maintenance of asymmetric distribution of phospholipids
- phosphorylated upon DNA damage, probably by ATM or ATR
ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(out)
Structure
Compartment
membrane
Expression
- widely expressed
- highest expression in kidney
- lesser expression in lung, brain, prostate, testis, ovary & small intestine
Pathology
- defects in ATP10A are a cause of Angelman syndrome
Genetics
- role of ATP10A in Angelman syndrome would suggest that the gene for ATP10A is an imprinted gene