Background information
C1orf85, also known as Lysosomal protein NCU-G1, is a 406 amino acid single-pass membrane protein that is highly glycosylated on its amino-terminal end. Transcription of the gene encoding C1orf85 is activated by TFEB, a transcription factor that specifically recognizes and binds E-box sequences. There are two isoforms of C1orf85 that are produced as a result of alternative splicing events. The C1orf85 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.
