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

Gene ID: 4361, updated on 5-Dec-2021

Summary

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
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

See MRE11 in Genome Data Viewer
Location:
11q21
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (94415570..94512701, complement)
105.20201022 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 G protein-coupled receptor 83 Neighboring gene microRNA 548l Neighboring gene ankyrin repeat domain 49 Neighboring gene chromosome 11 open reading frame 97 Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene fucosyltransferase 4 Neighboring gene piwi like RNA-mediated gene silencing 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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 cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair TAS
Traceable Author Statement
more info
PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 meiotic DNA double-strand break formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic intra-S DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
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
PubMed 
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
PubMed 
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 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 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
PubMed 
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001330347.2NP_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:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
  2. NM_005590.4NP_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:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
  3. NM_005591.4NP_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
    P49959
    UniProtKB/TrEMBL
    A0A024R395
    Related
    ENSP00000325863.4, ENST00000323929.8
    Conserved Domains (3) summary
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    94415570..94512701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542837.2XP_011541139.1  double-strand break repair protein MRE11 isoform X1

    See identical proteins and their annotated locations for XP_011541139.1

    UniProtKB/Swiss-Prot
    P49959
    UniProtKB/TrEMBL
    A0A024R395
    Conserved Domains (3) summary
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
  2. XM_006718842.3XP_006718905.1  double-strand break repair protein MRE11 isoform X2

    UniProtKB/TrEMBL
    F8W7U8
    Related
    ENSP00000376933.4, ENST00000393241.8
    Conserved Domains (3) summary
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
  3. XM_017017772.1XP_016873261.1  double-strand break repair protein MRE11 isoform X1

    UniProtKB/Swiss-Prot
    P49959
    UniProtKB/TrEMBL
    A0A024R395
    Related
    ENSP00000385614.3, ENST00000407439.7
    Conserved Domains (3) summary
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:295461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
  4. XM_005274008.3XP_005274065.1  double-strand break repair protein MRE11 isoform X3

    Conserved Domains (2) summary
    cd00840
    Location:17119
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
    pfam04152
    Location:139305
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain

RNA

  1. XR_947828.2 RNA Sequence

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