Aliases for ATP10A Gene
External Ids for ATP10A Gene
Previous HGNC Symbols for ATP10A Gene
Previous GeneCards Identifiers for ATP10A Gene
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP10A Gene
ATP10A (ATPase, Class V, Type 10A) is a Protein Coding gene. Diseases associated with ATP10A include angelman syndrome due to imprinting defect in 15q11-q13 and angelman syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10D.
UniProtKB/Swiss-Prot for ATP10A Gene
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).