RAD17 (RAD17 checkpoint clamp loader component)
- symbol:
- RAD17
- locus group:
- protein-coding gene
- location:
- 5q13.2
- gene_family:
- alias symbol:
- Rad24|RAD17Sp|CCYC
- alias name:
- None
- entrez id:
- 5884
- ensembl gene id:
- ENSG00000152942
- ucsc gene id:
- uc003jwo.5
- refseq accession:
- NM_133344
- hgnc_id:
- HGNC:9807
- approved reserved:
- 1998-07-31
RAD17（也称为RAD17 homolog或hRAD17）是一个重要的细胞周期检查点调控基因，属于RAD基因家族，该家族主要参与DNA损伤修复和细胞周期调控。RAD17基因编码的蛋白质是一种检查点蛋白，它在DNA损伤应答（DDR）中起关键作用，特别是在激活ATR（共济失调毛细血管扩张症和Rad3相关蛋白）信号通路时。RAD17蛋白与RFC（复制因子C）复合物类似，能够结合DNA损伤位点并招募其他检查点蛋白（如RAD9、HUS1和RAD1组成的9-1-1复合物），从而启动细胞周期阻滞以允许DNA修复。RAD17的主要作用位点包括DNA损伤位点和复制叉，它通过监测DNA完整性来确保基因组稳定性。突变或功能缺失的RAD17会导致DNA损伤修复缺陷，增加基因组不稳定性，进而可能引发癌症（如乳腺癌、卵巢癌和结直肠癌）或对放疗和化疗的敏感性改变。此外，RAD17的某些突变还与遗传性疾病（如早衰综合征）相关。如果RAD17过表达，可能增强细胞对DNA损伤的敏感性，导致过度激活的检查点反应和细胞周期停滞，甚至细胞凋亡；而降低表达则可能导致DNA损伤积累，增加突变率和肿瘤发生风险。RAD17与其他检查点蛋白（如ATR、CHK1和p53）相互作用，共同维持基因组稳定性。RAD基因家族的共性在于它们均参与DNA损伤修复和细胞周期调控，许多成员（如RAD51、RAD52）在重组修复中发挥作用，而RAD17则更侧重于检查点激活。该家族的基因通常对维持细胞稳态和防止癌变至关重要。
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]
Gene Ontology
Subcellular localization of RAD17 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for RAD17:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| Activation of ATR in response to replication stress |
| Cell Cycle |
| Cell Cycle Checkpoints |
| G2/M Checkpoints |
| Disease | Score | NofPmids | NofSnps | Source |
| Malignant neoplasm of breast | 0.002909916 | 3 | 0 | BeFree_GAD |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
| Seminoma | 0.000271442 | 1 | 0 | BeFree |
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