RAD51AP1
Description
The RAD51AP1 (RAD51 associated protein 1) is a protein-coding gene located on chromosome 12.
RAD51AP1, also known as RAD51-interacting protein, is a structure-specific DNA-binding protein that plays a crucial role in DNA repair by promoting homologous recombination (HR) mediated by RAD51. It facilitates D-loop formation by RAD51, enhancing joint molecule formation through its interaction with both RAD51 and DNA. RAD51AP1 binds to single-stranded DNA (ssDNA), double-stranded DNA (dsDNA), and secondary DNA structures, particularly branched DNA structures, which are essential intermediates in joint molecule formation. RAD51AP1 collaborates with WDR48/UAF1 to stimulate RAD51-mediated HR, where both proteins coordinate DNA-binding during HR and DNA repair. They also work together in DNA-binding to facilitate USP1-mediated deubiquitination of FANCD2. Beyond its role in DNA repair, RAD51AP1 participates in meiosis by promoting DMC1-mediated homologous meiotic recombination. Notably, it serves as a key mediator of the alternative lengthening of telomeres (ALT) pathway, a homology-directed repair mechanism for telomere elongation that regulates proliferation in aggressive cancers, by stimulating HR. While there is evidence suggesting RAD51AP1 may bind to RNA, further investigation is required to confirm RNA binding in vivo.
RAD51AP1 is also known as PIR51.
Associated Diseases
- low grade glioma
- cancer
- exercise-induced hyperinsulinism
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- glycogen storage disorder due to hepatic glycogen synthase deficiency
