MRE11 (MRE11 homolog, double strand break repair nuclease)
- symbol:
- MRE11
- locus group:
- protein-coding gene
- location:
- 11q21
- gene_family:
- alias symbol:
- ATLD
- alias name:
- AT-like disease
- entrez id:
- 4361
- ensembl gene id:
- ENSG00000020922
- ucsc gene id:
- uc001peu.4
- refseq accession:
- NM_005591
- hgnc_id:
- HGNC:7230
- approved reserved:
- 1995-05-05
MRE11（Meiotic Recombination 11）是DNA损伤修复系统中的关键基因，属于MRN复合物基因家族（包括MRE11、RAD50和NBS1）。该基因编码的MRE11蛋白是一种核酸酶，在DNA双链断裂（DSB）修复、同源重组（HR）和非同源末端连接（NHEJ）等过程中发挥核心作用。MRE11蛋白具有核酸内切酶和外切酶活性，能够识别并切割受损DNA，启动修复信号通路。其主要作用位点包括DNA断裂末端，通过与RAD50和NBS1形成MRN复合物，招募ATM激酶激活细胞周期检查点，协调DNA修复与细胞周期调控。MRE11突变会导致其功能丧失，引发基因组不稳定、细胞凋亡增加或衰老，与多种疾病密切相关，如共济失调毛细血管扩张症样疾病（ATLD）、遗传性乳腺癌和卵巢癌等。若MRE11过表达，可能异常激活DNA修复通路，导致肿瘤细胞对放疗/化疗产生抵抗；而表达降低则会使DNA损伤累积，增加突变率和癌症风险。该基因家族（MRN复合物）的共性在于成员均参与DNA损伤应答，通过物理连接断裂DNA、传递修复信号来维持基因组稳定性。MRE11的功能异常还会影响其他基因（如TP53、BRCA1）的调控网络，导致细胞周期紊乱或凋亡失调。
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of MRE11 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for MRE11:
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