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MRE11 MRE11 homolog, double strand break repair nuclease [ Homo sapiens (human) ]

Gene ID: 4361, updated on 13-Apr-2024

Summary

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Official Symbol
MRE11provided by HGNC
Official Full Name
MRE11 homolog, double strand break repair nucleaseprovided by HGNC
Primary source
HGNC:HGNC:7230
See related
Ensembl:ENSG00000020922 MIM:600814; AllianceGenome:HGNC:7230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATLD; HNGS1; MRE11A; MRE11B
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 5.3), bone marrow (RPKM 4.6) and 25 other tissues See more
Orthologs
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Genomic context

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See MRE11 in Genome Data Viewer
Location:
11q21
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94415570..94512412, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94422612..94519751, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94148736..94227010, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene IZUMO1 receptor, JUNO Neighboring gene NANOG hESC enhancer GRCh37_chr11:94083994-94084545 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:94113450-94113647 Neighboring gene G protein-coupled receptor 83 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5403 Neighboring gene microRNA 548l Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94245285-94245803 Neighboring gene ankyrin repeat domain 49 Neighboring gene chromosome 11 open reading frame 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94278664-94279338 Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene fucosyltransferase 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. High Expression of MRE11A Is Associated with Shorter Survival and a Higher Risk of Death in CRC Patients. Azambuja DB, et al. Genes (Basel), 2023 Jun 15. PMID 37372450, Free PMC Article
  2. High MRE11 Expression Level Predicts Poor Survival in Upper Tract Urothelial Carcinomas. Jhan JH, et al. Appl Immunohistochem Mol Morphol, 2023 Feb 1. PMID 36688483
  3. An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11. Tarapara B, et al. J Biomol Struct Dyn, 2023 Apr. PMID 35048780
  4. Post-Translational Modification of MRE11: Its Implication in DDR and Diseases. Lu R, et al. Genes (Basel), 2021 Jul 28. PMID 34440334, Free PMC Article
  5. MRE11 as a molecular signature and therapeutic target for cancer treatment with radiotherapy. Wang YY, et al. Cancer Lett, 2021 Aug 28. PMID 34022282

See all (469) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MRE11A: a novel negative regulator of human DNA mismatch repair.
    Title: MRE11A: a novel negative regulator of human DNA mismatch repair.
  2. Metabolic regulation of homologous recombination repair by MRE11 lactylation.
    Title: Metabolic regulation of homologous recombination repair by MRE11 lactylation.
  3. MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
    Title: MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
  4. Disordered regions mediate the interaction of p53 and MRE11.
    Title: Disordered regions mediate the interaction of p53 and MRE11.
  5. High Expression of MRE11A Is Associated with Shorter Survival and a Higher Risk of Death in CRC Patients.
    Title: High Expression of MRE11A Is Associated with Shorter Survival and a Higher Risk of Death in CRC Patients.
  6. An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
    Title: An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
  7. RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
    Title: RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
  8. High MRE11 Expression Level Predicts Poor Survival in Upper Tract Urothelial Carcinomas.
    Title: High MRE11 Expression Level Predicts Poor Survival in Upper Tract Urothelial Carcinomas.
  9. METTL16 antagonizes MRE11-mediated DNA end resection and confers synthetic lethality to PARP inhibition in pancreatic ductal adenocarcinoma.
    Title: METTL16 antagonizes MRE11-mediated DNA end resection and confers synthetic lethality to PARP inhibition in pancreatic ductal adenocarcinoma.
  10. Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.
    Title: Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.
Submit: New GeneRIF Correction See all GeneRIFs (199)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ataxia-telangiectasia-like disorder 1
MedGen: C4012790 OMIM: 604391 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of MRE11 meiotic recombination 11 homolog A (S. cerevisiae, MRE11A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed
Knockdown of MRE11 meiotic recombination 11 homolog A (MRE11A) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 3'-5'-DNA exonuclease activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA endonuclease activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA endonuclease activity TAS
Traceable Author Statement
more info
  
contributes_to DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables double-stranded DNA binding TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables manganese ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclease activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA double-strand break processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA double-strand break processing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in DNA double-strand break processing TAS
Traceable Author Statement
more info
  
involved_in DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA recombination TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA strand resection involved in replication fork processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA strand resection involved in replication fork processing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in R-loop processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via nonhomologous end joining IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via nonhomologous end joining IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in homologous chromosome pairing at meiosis IEA
Inferred from Electronic Annotation
more info
  
involved_in homologous recombination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in meiotic DNA double-strand break formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic G2 DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic G2/M transition checkpoint NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitotic intra-S DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of double-strand break repair via nonhomologous end joining IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in reciprocal meiotic recombination TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of mitotic recombination TAS
Traceable Author Statement
more info
 PubMed 
involved_in sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance via telomerase TAS
Traceable Author Statement
more info
 PubMed 
involved_in telomeric 3' overhang formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of BRCA1-C complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Mre11 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Mre11 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of Mre11 complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of Mre11 complex TAS
Traceable Author Statement
more info
 PubMed 
located_in PML body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in PML body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromosomal region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in chromosome, telomeric region HDA PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in replication fork IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
 PubMed 
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
double-strand break repair protein MRE11
Names
AT-like disease
DNA recombination and repair protein
MRE11 double strand break repair nuclease A
MRE11 homolog 1
MRE11 homolog A, double strand break repair nuclease
MRE11 homolog, double strand break repair nuclease A
MRE11 meiotic recombination 11 homolog A
MRE11 meiotic recombination 11-like protein A
double-strand break repair protein MRE11A
endo/exonuclease Mre11
meiotic recombination 11 homolog 1
meiotic recombination 11 homolog A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007261.1 RefSeqGene

    Range
    5001..81575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_85

mRNA and Protein(s)

  1. NM_001330347.2 → NP_001317276.1  double-strand break repair protein MRE11 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK308318, AP000765, AP000786
    Consensus CDS
    CCDS81617.1
    UniProtKB/TrEMBL
    F8W7U8
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  2. NM_005590.4 → NP_005581.2  double-strand break repair protein MRE11 isoform 2

    See identical proteins and their annotated locations for NP_005581.2

    Status: REVIEWED

    Source sequence(s)
    AP000765, BC017823, BF574168, U37359
    Consensus CDS
    CCDS8298.1
    UniProtKB/Swiss-Prot
    P49959
    UniProtKB/TrEMBL
    Q05D78
    Related
    ENSP00000326094.3, ENST00000323977.7
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  3. NM_005591.4 → NP_005582.1  double-strand break repair protein MRE11 isoform 1

    See identical proteins and their annotated locations for NP_005582.1

    Status: REVIEWED

    Source sequence(s)
    AF022778, AP000765
    Consensus CDS
    CCDS8299.1
    UniProtKB/Swiss-Prot
    B3KTC7, O43475, P49959
    Related
    ENSP00000325863.4, ENST00000323929.8
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    94415570..94512412 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542837.3 → XP_011541139.1  double-strand break repair protein MRE11 isoform X1

    See identical proteins and their annotated locations for XP_011541139.1

    UniProtKB/Swiss-Prot
    B3KTC7, O43475, P49959
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  2. XM_047426967.1 → XP_047282923.1  double-strand break repair protein MRE11 isoform X3

  3. XM_006718842.4 → XP_006718905.1  double-strand break repair protein MRE11 isoform X2

    UniProtKB/TrEMBL
    F8W7U8
    Related
    ENSP00000376933.4, ENST00000393241.8
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  4. XM_017017772.2 → XP_016873261.1  double-strand break repair protein MRE11 isoform X1

    UniProtKB/Swiss-Prot
    B3KTC7, O43475, P49959
    Conserved Domains (3) summary
    TIGR00583
    Location:10 → 402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14 → 275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295 → 461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  5. XM_005274008.4 → XP_005274065.1  double-strand break repair protein MRE11 isoform X4

    Conserved Domains (2) summary
    cd00840
    Location:17 → 119
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:139 → 305
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

  6. XM_047426968.1 → XP_047282924.1  double-strand break repair protein MRE11 isoform X5

RNA

  1. XR_007062484.1 RNA Sequence

  2. XR_007062482.1 RNA Sequence

  3. XR_007062483.1 RNA Sequence

  4. XR_947828.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    94422612..94519751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368841.1 → XP_054224816.1  double-strand break repair protein MRE11 isoform X1

    UniProtKB/Swiss-Prot
    B3KTC7, O43475, P49959

  2. XM_054368843.1 → XP_054224818.1  double-strand break repair protein MRE11 isoform X3

  3. XM_054368842.1 → XP_054224817.1  double-strand break repair protein MRE11 isoform X2

    UniProtKB/TrEMBL
    F8W7U8

  4. XM_054368840.1 → XP_054224815.1  double-strand break repair protein MRE11 isoform X1

    UniProtKB/Swiss-Prot
    B3KTC7, O43475, P49959

  5. XM_054368844.1 → XP_054224819.1  double-strand break repair protein MRE11 isoform X4

  6. XM_054368845.1 → XP_054224820.1  double-strand break repair protein MRE11 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49959.3 GenPept UniProtKB/Swiss-Prot:P49959

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