Chromosome 5 open reading frame 47 (C5orf47)

Chromosome 5 open reading frame 47 (C5orf47) is a protein-coding gene that encodes an uncharacterized protein containing the DUF4680 domain, a domain of unknown function marked by conserved sequence motifs[1][6]. It is primarily expressed in human testis, with lower expression in tissues including stomach, lung, kidney, intestine, heart, and adrenal gland, especially during fetal development[1]. C5orf47’s protein is basic, predicted to localize to the nucleus (with a nuclear localization sequence), and has several predicted phosphorylation and glycosylation sites[1]. Its function remains unclear, but predicted protein interactions suggest a role in spermatogenesis and ciliary/flagellar processes[1]. Expression is lower in teratozoospermia and p63-depleted cells, suggesting possible roles in sperm morphology and broader developmental processes[1]. There is no established evidence that C5orf47 is a direct therapeutic target, biomarker, or has known interacting drugs[6]. The protein is conserved among mammals, birds, and reptiles but not in lower vertebrates or invertebrates[1][3].

Other names

C5orf47LOC133491uncharacterized protein C5orf47hypothetical protein LOC133491