Evolution, structure and emerging roles of C1ORF112 in DNA replication, DNA damage responses, and cancer

Jacob Edogbanya, Daniela Tejada‐martinez, Nigel J. Jones, Amit Jaiswal, Sarah Bell, Rui Cordeiro, Sipko Van Dam, Daniel J. Rigden, João Pedro De Magalhães

Research output: Contribution to journalArticlepeer-review


The C1ORF112 gene initially drew attention when it was found to be strongly co‐expressed with several genes previously associated with cancer and implicated in DNA repair and cell cycle regulation, such as RAD51 and the BRCA genes. The molecular functions of C1ORF112 remain poorly understood, yet several studies have uncovered clues as to its potential functions. Here, we review the current knowledge on C1ORF112 biology, its evolutionary history, possible functions, and its potential relevance to cancer. C1ORF112 is conserved throughout eukaryotes, from plants to humans, and is very highly conserved in primates. Protein models suggest that C1ORF112 is an alpha-helical protein. Interestingly, homozygous knockout mice are not viable, suggesting an essential role for C1ORF112 in mammalian development. Gene expression data show that, among human tissues, C1ORF112 is highly expressed in the testes and overexpressed in various cancers when compared to healthy tissues. C1ORF112 has also been shown to have altered levels of expression in some tumours with mutant TP53. Recent screens associate C1ORF112 with DNA replication and reveal possible links to DNA damage repair pathways, including the Fanconi anaemia pathway and homologous recombination. These insights provide important avenues for future research in our efforts to understand the functions and potential disease relevance of C1ORF112.
Original languageEnglish
Pages (from-to)4365-4376
Number of pages12
JournalCellular and Molecular Life Sciences
Issue number9
Early online date24 Feb 2021
Publication statusPublished - May 2021


  • BC055324
  • DNA repair
  • Oncogene
  • Tumour
  • Fanconi anaemia


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