Chromosome 12 open reading frame 71 (C12orf71)

Chromosome 12 open reading frame 71 (C12orf71) is a mammalian-specific, uncharacterized protein encoded by the C12orf71 gene on chromosome 12p11.23. The protein is 269 amino acids long, with a predicted molecular weight of 30.4 kDa, and contains a large domain of unknown function (DUF4640), as well as multiple post-translational modification sites (phosphorylation, SUMOylation, ubiquitination, acetylation, and glycosylation)[2][4][7]. C12orf71 is mainly cytoplasmic and highly expressed in photoreceptors, with intermediate expression in testis and low expression in several other tissues. Protein-protein interaction data indicate a direct moderate-confidence interaction with AP2B1 as well as co-occurrence in complexes with proteins involved in chromatin remodeling, protein trafficking, and fertilization-related processes[2]. Currently, there is no direct evidence that C12orf71 has an enzymatic, receptor, transporter, or drug target function, and its biological role is largely uncharacterized. Its main disease association is with differentially methylated skin in common warts caused by HPV infection, along with some SNP associations for unrelated traits[2].

Other names

C12orf71LOC728858uncharacterized protein C12orf71