Chromosome 5 open reading frame 22 (C5orf22)

Chromosome 5 open reading frame 22 (C5orf22) encodes a soluble protein of approximately 50 kDa that localizes to the cytoplasm and nucleus. It is a poorly characterized protein in humans, classified within the UPF0489 family. Emerging evidence suggests C5orf22 is a component of the WBP11/PQBP1 splicing complex, necessary for accurate pre-mRNA splicing. Loss of C5orf22 leads to aberrant splicing, deregulated gene expression affecting cell proliferation, immune modulation, and DNA repair, and can induce cell cycle arrest and apoptosis. Higher expression of C5orf22 has been associated with reduced survival in breast cancer, marking it as a potential prognostic indicator. C5orf22 is a protein-coding gene found on chromosome 5 (5p13.3), widely expressed across tissues, with highest abundance in skeletal muscle. The protein contains globular and disordered regions, localizes to the cytoplasm and nucleus, and is predicted to undergo various post-translational modifications. C5orf22 acts as part of the WBP11/PQBP1 splicing complex and is involved in regulating alternative splicing for genes implicated in DNA repair, cell cycle, and immune response. Knockdown of C5orf22 leads to widespread alternative splicing changes, including splicing events related to DNA repair genes like BRCA1. C5orf22 is linked to disease roles in cancer, particularly as a prognostic marker in breast cancer and in influencing cancer cell behavior; it has also been linked to growth traits such as body height. Interacting proteins include WBP11, ELOF1, OSM, Surf2, and DDITL4, with functional links to RNA splicing and gene expression regulation. However, there is no evidence that it is a direct therapeutic target, receptor, enzyme, transporter, or ion channel, and no direct evidence currently exists that C5orf22 is a drug target, receptor, enzyme, transporter, or a member of classical druggable protein families. No drugs targeting C5orf22 are known, and there are no specific mechanisms of action, safety concerns, or established biomarkers for therapeutic monitoring.

Other names

C5orf22UPF0489 protein C5orf22FLJ11193