RAD51C (RAD51 paralog C)
- symbol:
- RAD51C
- locus group:
- protein-coding gene
- location:
- 17q22
- gene_family:
- Fanconi anemia, complementation groups
- alias symbol:
- RAD51L2|FANCO
- alias name:
- None
- entrez id:
- 5889
- ensembl gene id:
- ENSG00000108384
- ucsc gene id:
- uc002iwu.5
- refseq accession:
- NM_058216
- hgnc_id:
- HGNC:9820
- approved reserved:
- 1998-02-26
RAD51C是RAD51基因家族的重要成员之一，属于DNA修复相关基因家族。这个家族的核心功能是参与同源重组修复（HRR），这是细胞修复DNA双链断裂（DSBs）的关键机制之一。RAD51C在HRR过程中与其他RAD51家族蛋白（如RAD51、RAD51B、RAD51D、XRCC2和XRCC3）形成复合物，帮助稳定断裂的DNA链并促进同源模板搜索和链交换。RAD51C主要作用位点是在DNA损伤修复的早期阶段，特别是在BRCA1/2依赖的修复通路中发挥重要作用。如果RAD51C发生突变，可能导致HRR功能缺陷，使细胞无法有效修复DNA损伤，从而增加基因组不稳定性，最终可能引发癌症。已有研究表明，RAD51C的突变与遗传性乳腺癌、卵巢癌以及其他癌症的易感性密切相关。当RAD51C表达降低时，细胞对DNA损伤的敏感性增加，可能导致染色体异常和细胞凋亡；而过度表达可能干扰正常的HRR过程，导致修复错误或基因组重排。RAD51C与其他DNA修复蛋白（如BRCA1/2、PALB2）协同作用，其功能异常可能影响整个修复网络的平衡。RAD51基因家族的共性在于它们都编码保守的RecA-like重组酶，这些蛋白在维持基因组稳定性、减数分裂和体细胞DNA修复中发挥核心作用。RAD51C的异常表达或功能缺陷不仅影响自身，还可能通过破坏修复复合物的形成而影响其他家族成员的功能，从而加剧基因组不稳定性。
This gene is a member of the RAD51 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 other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Ontology
Subcellular localization of RAD51C (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for RAD51C:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 3440 Homologous recombination [PATH:hsa03440] |
| 3460 Fanconi anemia pathway [PATH:hsa03460] |
| Name |
|---|
| Cell Cycle |
| Factors involved in megakaryocyte development and platelet production |
| Hemostasis |
| Meiosis |
| Meiotic recombination |
| Disease | Score | NofPmids | NofSnps | Source |
| FANCONI ANEMIA, COMPLEMENTATION GROUP O | 0.36 | 1 | 6 | CLINVAR_CTD_human_UNIPROT |
| BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | 0.36 | 2 | 5 | CLINVAR_CTD_human_UNIPROT |
| Fanconi Anemia | 0.243800186 | 14 | 1 | BeFree_CTD_human_ORPHANET |
| Hereditary Breast and Ovarian Cancer Syndrome | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
| ovarian neoplasm | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Neoplastic Syndromes, Hereditary | 0.12 | 0 | 28 | CLINVAR |
| Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.016721114 | 23 | 5 | BeFree_GAD |
| Malignant neoplasm of ovary | 0.011791553 | 27 | 0 | BeFree_GAD |
| Ovarian Carcinoma | 0.007328931 | 27 | 0 | BeFree |
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