Belonging to the THEP1 NTPase family, C1orf57 (also known as nucleoside triphosphate phosphohydrolase), and its mouse homolog, 2310079N02Rik, are 190 amino acid proteins that has nucleotide phosphatase activity towards ATP, GTP, TTP, CTP and UTP. Acting as a monomer, it also hydrolyzes nucleoside diphosphates with lower efficiency. The gene encoding C1orf57 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinson's, Gaucher disease and Usher syndrome are also associated with chromosome 1.
Cancer-related nucleoside-triphosphatase; Cancer-related nucleoside-triphosphatase homolog; NTPase; Nucleoside triphosphate phosphohydrolase; nucleoside-triphosphatase C1orf57 homolog; RP4-659I19.2; RP4-678E16.2