MRE11P1 (MRE11 homolog, double strand break repair nuclease pseudogene 1)

Gene Basic Information

Gene Basic Information

symbol:
MRE11P1
locus group:
pseudogene
location:
3q25.31
gene_family:
alias symbol:
None
alias name:
None
entrez id:
4362
ensembl gene id:
ENSG00000242537
ucsc gene id:
None
refseq accession:
NG_001157
hgnc_id:
HGNC:7231
approved reserved:
1997-10-10

Chromosome Location

Chromosome Location

3q25.31

Gene Summary

Gene Summary

MRE11P1（MRE11 Pseudogene 1）是MRE11基因的一个假基因，属于MRE11基因家族。假基因通常是由功能基因复制或逆转录产生的非功能性DNA序列，缺乏完整的编码能力或调控元件，因此不表达功能性蛋白。MRE11基因家族的核心成员包括MRE11A、RAD50和NBS1，它们共同形成MRN复合物，在DNA损伤修复、端粒维持和细胞周期调控中发挥关键作用。MRN复合物通过识别DNA双链断裂（DSB）并激活ATM激酶，启动DNA损伤应答（DDR）信号通路，确保基因组稳定性。MRE11P1作为假基因，可能通过竞争性结合miRNA或转录因子来调控MRE11A的表达，从而间接影响DNA修复过程。目前关于MRE11P1的具体功能研究较少，但假基因的异常表达可能与基因组不稳定性或癌症发展相关。例如，某些假基因的过表达可能干扰正常基因的调控网络，导致DNA修复缺陷或细胞增殖失控。相反，MRE11P1表达降低可能减少对MRE11A的干扰，增强DNA修复效率。MRE11基因家族的共性在于它们均参与维持基因组完整性，尤其在同源重组（HR）和非同源末端连接（NHEJ）修复途径中起核心作用。MRE11A的功能缺失突变与共济失调毛细血管扩张症（ATLD）等疾病相关，表现为神经退行性变和癌症易感性。尽管MRE11P1本身不编码蛋白，但其序列变异或表观遗传修饰可能影响邻近基因的表达或成为疾病生物标志物。未来研究需进一步探索MRE11P1在调控网络中的潜在作用及其与肿瘤发生发展的关联。

ChineseEnglish

None

OMIM entry for MRE11P1     Wikipedia entry for MRE11P1

Gene Sequence

Gene Sequence

Nucleotide sequence of MRE11P1:[NCBI]
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Gene Variants

Gene Variants

SNP variants of MRE11P1:           Showing partial SNPs

Gene Expression

Gene Expression

Tissue expression of MRE11P1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of MRE11P1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for MRE11P1:

Related microRNA

Related microRNA

microRNAs potentially regulating MRE11P1:     

Gene Interactions

Gene Interactions

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Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source

Related Publications

Related Publications

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