RAD51 (RAD51 recombinase)
- symbol:
- RAD51
- locus group:
- protein-coding gene
- location:
- 15q15.1
- gene_family:
- alias symbol:
- HsRad51|HsT16930|BRCC5|FANCR
- alias name:
- BRCA1/BRCA2-containing complex, su…
- entrez id:
- 5888
- ensembl gene id:
- ENSG00000051180
- ucsc gene id:
- uc001zmi.5
- refseq accession:
- NM_002875|NM_133487
- hgnc_id:
- HGNC:9817
- approved reserved:
- 1993-05-26
RAD51是RAD51基因家族的核心成员，属于重组酶家族，在DNA同源重组修复（HRR）中发挥关键作用。它编码一种高度保守的ATP依赖性重组酶，能够催化单链DNA侵入同源双链DNA，形成D-loop结构，从而启动DNA损伤修复。RAD51主要在减数分裂和有丝分裂期间参与双链断裂（DSB）的精确修复，维持基因组稳定性。其表达产物RAD51蛋白在细胞核内形成核蛋白纤维，与BRCA1、BRCA2等乳腺癌易感蛋白协同作用。突变会导致HRR功能缺陷，引起基因组不稳定性增加，与乳腺癌、卵巢癌等遗传性癌症高度相关。RAD51过表达可能促进肿瘤细胞对DNA损伤治疗的抵抗，而表达降低则导致染色体异常和细胞凋亡增加。该基因属于RAD51基因家族，包括RAD51B、RAD51C、RAD51D等旁系同源基因，家族成员均参与DNA修复但功能存在分化。RAD51家族蛋白均含有保守的RecA结构域，具有DNA结合和ATP酶活性。研究发现RAD51表达水平异常与化疗耐药性相关，其抑制剂正在作为抗癌药物靶点被开发。此外，RAD51在减数分裂重组中的精确调控对配子形成至关重要，其功能异常可能导致不育。
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
由该基因编码的蛋白质是RAD51蛋白家族的一个成员。 RAD51家族成员是高度相似的细菌的RecA和酿酒酵母的Rad51，并已知参与同源重组和DNA修复。这种蛋白质可以与ssDNA结合蛋白的RPA和RAD52交互，并且它被认为在同源配对和DNA的链转移作用。这种蛋白也发现与BRCA1和BRCA2相互作用，这可能是对DNA损伤的细胞应答非常重要的。 BRCA2被示出为双向调节细胞内定位和该蛋白质的DNA结合的能力。以下BRCA2失活这些控件的损失可能导致基因组不稳定和肿瘤发生的重要事件。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2009年08月提供]
基因本体信息
RAD51基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
RAD51基因的本体（GO）信息：
| 名称 |
|---|
| 3440 Homologous recombination [PATH:hsa03440] |
| 3460 Fanconi anemia pathway [PATH:hsa03460] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 名称 |
|---|
| Assembly of the RAD51-ssDNA nucleoprotein complex |
| Cell Cycle |
| DNA Repair |
| Double-Strand Break Repair |
| Homologous DNA pairing and strand exchange |
| Homologous Recombination Repair |
| Homologous recombination repair of replication-independent double-strand breaks |
| Meiosis |
| Meiotic recombination |
| Presynaptic phase of homologous DNA pairing and strand exchange |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Malignant neoplasm of breast | 0.215831722 | 88 | 4 | BeFree_GAD_UNIPROT |
| Mammary Neoplasms | 0.150967744 | 16 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Head and Neck Neoplasms | 0.127458414 | 4 | 0 | CTD_human_GAD_LHGDN |
| Breast Cancer, Familial | 0.122714419 | 10 | 4 | BeFree_CLINVAR |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| MIRROR MOVEMENTS 2 | 0.12 | 0 | 2 | CLINVAR |
| Hereditary Breast and Ovarian Cancer Syndrome | 0.12 | 0 | 0 | ORPHANET |
| Cardiomyopathies | 0.080271442 | 1 | 0 | BeFree_RGD |
| Hypertensive disease | 0.08 | 1 | 0 | RGD |
| Liver Neoplasms, Experimental | 0.08 | 1 | 0 | RGD |
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