CCDC113, a member of the coiled-coil domain-containing protein families, has been implicated in various biological functions. It is involved in ciliary assembly and activity, and may play a role in pathways related to cell-cell signaling and sperm development. Its importance spans across multiple biological processes, making it a gene of interest in understanding normal physiological functions and disease mechanisms. Genetic models, such as KO/CKO mouse models, can be valuable in further elucidating its functions [3,4].

In colorectal cancer (CRC), CCDC113 is significantly highly expressed, and its high expression is correlated with poor prognosis. RNA-seq and database analysis suggest it is positively correlated with the TGF-β signaling pathway. Inhibition of this pathway can reverse the increased proliferation and migration ability of CRC cells caused by CCDC113 overexpression, indicating that CCDC113 promotes CRC tumorigenesis and metastasis via the TGF-β signaling pathway [1]. In male mice, disruption of CCDC113 leads to spermatozoa with disorganized flagella and head-tail coupling apparatus (HTCA), causing male infertility. CCDC113 binds to CFAP57 and CFAP91, acting as an adaptor protein in the sperm axoneme and is also a structural component of HTCA [2].

In conclusion, CCDC113 is crucial for ciliary-related functions, male fertility, and plays a significant role in colorectal cancer. Mouse models with CCDC113 knockout or conditional knockout have been instrumental in revealing its role in male infertility and CRC, providing insights into potential pathogenesis and highlighting its potential as a biomarker and therapeutic target for CRC [1,2].

References:

1. Hou, Chenying, Yang, Yanmei, Wang, Peiwen, Sun, Xiao, He, Luyun. 2024. CCDC113 promotes colorectal cancer tumorigenesis and metastasis via TGF-β signaling pathway. In Cell death & disease, 15, 666. doi:10.1038/s41419-024-07036-3. https://pubmed.ncbi.nlm.nih.gov/39261464/

2. Wu, Bingbing, Long, Chenghong, Yang, Yuzhuo, Li, Wei, Liu, Chao. 2024. CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility. In eLife, 13, . doi:10.7554/eLife.98016. https://pubmed.ncbi.nlm.nih.gov/39671309/

3. Bazan, Rafał, Schröfel, Adam, Joachimiak, Ewa, Pigino, Gaia, Wloga, Dorota. 2021. Ccdc113/Ccdc96 complex, a novel regulator of ciliary beating that connects radial spoke 3 to dynein g and the nexin link. In PLoS genetics, 17, e1009388. doi:10.1371/journal.pgen.1009388. https://pubmed.ncbi.nlm.nih.gov/33661892/

4. Firat-Karalar, Elif N, Sante, Joshua, Elliott, Sarah, Stearns, Tim. 2014. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. In Journal of cell science, 127, 4128-33. doi:10.1242/jcs.157008. https://pubmed.ncbi.nlm.nih.gov/25074808/