RAD17
RAD17 checkpoint clamp loader component
Summary
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1762999224 | 5:68,667,362 | G/T | — | uncertain significance |
| rs750516826 | 5:68,667,377 | C/T | — | uncertain significance |
| rs555512854 | 5:68,669,796 | T/C | — | uncertain significance |
| rs781748496 | 5:68,669,858 | A/G | — | uncertain significance |
| rs374731712 | 5:68,670,503 | T/A | — | uncertain significance |
| rs1057454940 | 5:68,670,509 | G/C | — | uncertain significance |
| rs2534276797 | 5:68,677,746 | A/G | — | uncertain significance |
| rs1234965480 | 5:68,677,882 | C/G | — | uncertain significance |
| rs537758732 | 5:68,682,039 | T/C | — | uncertain significance |
| rs556421329 | 5:68,682,051 | C/T | — | uncertain significance |
| rs756527674 | 5:68,682,228 | A/G | — | uncertain significance |
| rs375218235 | 5:68,682,231 | C/T | — | uncertain significance |
| rs147597200 | 5:68,682,267 | G/A | — | uncertain significance |
| rs772336247 | 5:68,684,897 | C/G | — | uncertain significance |
| rs2534388578 | 5:68,687,711 | G/A | — | uncertain significance |
| rs780296002 | 5:68,689,194 | T/A | — | uncertain significance |
| rs749738074 | 5:68,689,202 | A/G | — | uncertain significance |
| rs767064843 | 5:68,689,322 | T/C | — | uncertain significance |
| rs142142517 | 5:68,692,227 | C/T | — | likely benign |
| rs774489451 | 5:68,692,231 | C/G | — | uncertain significance |
| rs1236448107 | 5:68,692,327 | G/A | — | uncertain significance |
| rs759137128 | 5:68,695,880 | G/A | — | uncertain significance |
| rs1060499892 | 5:68,695,896 | A/G | — | likely benign |
| rs1262997274 | 5:68,695,939 | C/T | — | uncertain significance |
| rs752534975 | 5:68,695,954 | T/A | — | uncertain significance |
| rs550937112 | 5:68,706,320 | C/T | — | uncertain significance |
| rs769235157 | 5:68,706,344 | T/C | — | uncertain significance |
| rs141495019 | 5:68,709,401 | G/A | upstream gene variant | — |
| rs746372447 | 5:68,709,986 | C/T | — | uncertain significance |
| rs1561283954 | 5:68,710,090 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.