RAD17

Description

The RAD17 (RAD17 checkpoint clamp loader component) is a protein-coding gene located on chromosome 5.

RAD17 is a human gene encoding a protein highly similar to the Schizosaccharomyces pombe rad17 gene product, crucial for cell cycle arrest and DNA damage repair in response to DNA damage. RAD17 shares similarities with DNA replication factor C (RFC), forming complexes with RFCs. It binds to chromatin before DNA damage and is phosphorylated by ATR after damage. RAD17 recruits the RAD1-RAD9-HUS1 checkpoint protein complex to chromatin post-damage, potentially facilitating its phosphorylation. This phosphorylation is essential for the G2 arrest induced by DNA damage, considered a critical early event in DNA-damaged cell checkpoint signaling. Eight alternatively spliced variants of this gene, encoding four distinct proteins, have been identified. During meiosis in yeast and mammals, RAD17 functions as a DNA damage sensor, promoting DNA checkpoint control. In yeast, RAD17 facilitates the proper assembly of the meiotic crossover recombination complex containing RAD51, thus promoting efficient repair of meiotic DNA double-strand breaks. During male meiosis in maize, ZmRAD17 is involved in repairing DNA double-strand breaks, likely by promoting synaptonemal complex assembly.

RAD17, also known as RF-C/activator 1 homolog, plays a crucial role in cell growth, maintaining chromosomal stability, and activating the ATR-dependent checkpoint response to DNA damage. This protein possesses weak ATPase activity, essential for binding to chromatin. It facilitates the recruitment of the 9-1-1 (RAD1-RAD9-HUS1) complex and RHNO1 onto chromatin, subsequently activating CHEK1. RAD17 may also function as a sensor of DNA replication progression and might be involved in homologous recombination.

RAD17 is also known as CCYC, HRAD17, R24L, RAD17SP, RAD24.

Associated Diseases

WES Whole Exome Sequencing