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

    Gene ID: 4361, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94415570..94512412, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94422612..94519751, complement)
    RS_2024_09 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. Intranuclear targeting and nuclear export of the adenovirus E1B-55K protein are regulated by SUMO1 conjugation. Kindsmüller K, et al. Proc Natl Acad Sci U S A, 2007 Apr 17. PMID 17428914, Free PMC Article
    2. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. Matsumoto Y, et al. DNA Repair (Amst), 2011 Mar 7. PMID 21227757
    3. MRE11 deficiency increases sensitivity to poly(ADP-ribose) polymerase inhibition in microsatellite unstable colorectal cancers. Vilar E, et al. Cancer Res, 2011 Apr 1. PMID 21300766, Free PMC Article
    4. Alterations of the double-strand break repair gene MRE11 in cancer. Fukuda T, et al. Cancer Res, 2001 Jan 1. PMID 11196167
    5. Identification of Mre11 as a target for heat radiosensitization. Dynlacht JR, et al. Radiat Res, 2011 Sep. PMID 21699368, Free PMC Article

    See all (512) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres.
      Title: Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres.
    2. MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.
      Title: MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.
    3. MRE11A: a novel negative regulator of human DNA mismatch repair.
      Title: MRE11A: a novel negative regulator of human DNA mismatch repair.
    4. Metabolic regulation of homologous recombination repair by MRE11 lactylation.
      Title: Metabolic regulation of homologous recombination repair by MRE11 lactylation.
    5. MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
      Title: MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
    6. Disordered regions mediate the interaction of p53 and MRE11.
      Title: Disordered regions mediate the interaction of p53 and MRE11.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (201)

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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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    NEW Try the new Transcript table

    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_2024_08

    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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