Belonging to the UPF0667 family, C1orf55 is a 451 amino acid protein that is phosphorylated upon DNA damage, likely by Atm or ATR. There are three different isoforms of C1orf55 that are produced as a result of alternative splicing events. The gene encoding C1orf55 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, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
Synonyms: C1orf55, CA055_HUMAN, Chromosome 1 open reading frame 55, dJ671D7.1, FLJ35382, Hypothetical protein LOC163859, RP4 671D7.1, UPF0667 protein C1orf55.