C1orf43, also known as Hepatitis C virus NS5A-transactivated protein 4 and Protein NICE-3, is a 253 amino acid single-pass membrane protein. There are five isoforms of C1orf43 that are produced as a result of alternative splicing events. The gene encoding C1orf43 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: 4933434E20Rik, AI462154, C1orf43, CA043_HUMAN, Chromosome 1 open reading frame 43, HCV NS5A transactivated protein 4, HCV NS5A-transactivated protein 4, Hepatitis C virus NS5A transactivated protein 4, Hepatitis C virus NS5A-transactivated protein 4, HSPC012, Hypothetical protein LOC25912, MGC111001, NICE 3, NICE3, NS5ATP4, OTTHUMP00000034199, OTTHUMP00000034201, OTTHUMP00000034202, Protein NICE 3, Protein NICE-3, Riken cDNA 4933434E20, S863 3, S863-3, Uncharacterized protein C1orf43.