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MRE11A MRE11 homolog A, double strand break repair nuclease [ Homo sapiens (human) ]

Gene ID: 4361, updated on 7-Feb-2016
Official Symbol
MRE11Aprovided by HGNC
Official Full Name
MRE11 homolog A, double strand break repair nucleaseprovided by HGNC
Primary source
HGNC:HGNC:7230
See related
Ensembl:ENSG00000020922; HPRD:02889; MIM:600814; Vega:OTTHUMG00000167780
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; MRE11; 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]
Orthologs
See MRE11A in Epigenomics, MapViewer
Location:
11q21
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (94415578..94512185, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94150466..94227040, 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 fucosyltransferase 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding TAS
Traceable Author Statement
more info
PubMed 
endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
endodeoxyribonuclease activity TAS
Traceable Author Statement
more info
 
manganese ion binding IEA
Inferred from Electronic Annotation
more info
 
nuclease activity TAS
Traceable Author Statement
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA recombination TAS
Traceable Author Statement
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
double-strand break repair via nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
double-strand break repair via synthesis-dependent strand annealing TAS
Traceable Author Statement
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
intra-S DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
 
mitotic G2 DNA damage checkpoint IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA endoreduplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
regulation of mitotic recombination TAS
Traceable Author Statement
more info
PubMed 
sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
synapsis IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 
telomeric 3' overhang formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
Mre11 complex NAS
Non-traceable Author Statement
more info
PubMed 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
PML body ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
double-strand break repair protein MRE11A
Names
AT-like disease
DNA recombination and repair protein
MRE11 double strand break repair nuclease A
MRE11 homolog 1
MRE11 homolog A
MRE11 homolog, double strand break repair nuclease A
MRE11 meiotic recombination 11 homolog A
MRE11 meiotic recombination 11-like protein A
endo/exonuclease Mre11
meiotic recombination 11 homolog 1
meiotic recombination 11 homolog A

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_005590.3NP_005581.2  double-strand break repair protein MRE11A isoform 2

    See identical proteins and their annotated locations for NP_005581.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform 2 lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AP000765, BC017823, BF574168, U37359
    Consensus CDS
    CCDS8298.1
    UniProtKB/Swiss-Prot
    P49959
    UniProtKB/TrEMBL
    Q05D78
    Conserved Domains (3) summary
    pfam04152
    Location:294461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
  2. NM_005591.3NP_005582.1  double-strand break repair protein MRE11A isoform 1

    See identical proteins and their annotated locations for NP_005582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform of this protein.
    Source sequence(s)
    AF022778, AP000765, BF574168
    Consensus CDS
    CCDS8299.1
    UniProtKB/TrEMBL
    A0A024R395
    UniProtKB/Swiss-Prot
    P49959
    Conserved Domains (3) summary
    pfam04152
    Location:294461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    94415578..94512185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542837.1XP_011541139.1  

    See identical proteins and their annotated locations for XP_011541139.1

    UniProtKB/TrEMBL
    A0A024R395
    UniProtKB/Swiss-Prot
    P49959
    Related
    ENSP00000385614, OTTHUMP00000236830, ENST00000407439, OTTHUMT00000396234
    Conserved Domains (3) summary
    pfam04152
    Location:294461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
  2. XM_006718842.2XP_006718905.1  

    UniProtKB/TrEMBL
    F8W7U8
    Related
    ENSP00000376933, OTTHUMP00000236832, ENST00000393241, OTTHUMT00000396236
    Conserved Domains (3) summary
    pfam04152
    Location:294461
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
    TIGR00583
    Location:10402
    mre11; DNA repair protein (mre11)
    cd00840
    Location:14275
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain
  3. XM_005274008.2XP_005274065.1  

    Conserved Domains (2) summary
    pfam04152
    Location:138305
    Mre11_DNA_bind; Mre11 DNA-binding presumed domain
    cd00840
    Location:17119
    MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

RNA

  1. XR_947828.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    94033481..94110055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)