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Aliases for MRE11A Gene

Aliases for MRE11A Gene

  • MRE11 Homolog A, Double Strand Break Repair Nuclease 2 3 5
  • MRE11 Homolog, Double Strand Break Repair Nuclease A 2 3
  • Meiotic Recombination 11 Homolog 1 3 4
  • Meiotic Recombination 11 Homolog A 3 4
  • AT-Like Disease 2 3
  • MRE11 Homolog 1 3 4
  • MRE11 Homolog A 3 4
  • MRE11 3 4
  • HNGS1 3 4
  • MRE11 Meiotic Recombination 11 Homolog A (S. Cerevisiae) 2
  • Meiotic Recombination (S. Cerevisiae) 11 Homolog A 2
  • MRE11 Meiotic Recombination 11-Like Protein A 3
  • MRE11 Double Strand Break Repair Nuclease A 3
  • MRE11 Meiotic Recombination 11 Homolog A 3
  • DNA Recombination And Repair Protein 3
  • Endo/Exonuclease Mre11 3
  • MRE11B 3
  • ATLD 3

External Ids for MRE11A Gene

Previous HGNC Symbols for MRE11A Gene

  • MRE11

Previous GeneCards Identifiers for MRE11A Gene

  • GC11M096483
  • GC11M095658
  • GC11M094335
  • GC11M093838
  • GC11M093790
  • GC11M094150
  • GC11M090216

Summaries for MRE11A Gene

Entrez Gene Summary for MRE11A Gene

  • 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]

GeneCards Summary for MRE11A Gene

MRE11A (MRE11 Homolog A, Double Strand Break Repair Nuclease) is a Protein Coding gene. Diseases associated with MRE11A include ataxia-telangiectasia-like disorder and ataxia-telangiectasia. Among its related pathways are Homologous recombination and DNA Double-Strand Break Repair. GO annotations related to this gene include hydrolase activity and double-stranded DNA binding.

UniProtKB/Swiss-Prot for MRE11A Gene

  • Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3-5 exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation.

Gene Wiki entry for MRE11A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRE11A Gene

Genomics for MRE11A Gene

Regulatory Elements for MRE11A Gene

Enhancers for MRE11A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MRE11A on UCSC Golden Path with GeneCards custom track

Promoters for MRE11A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MRE11A on UCSC Golden Path with GeneCards custom track

Genomic Location for MRE11A Gene

Chromosome:
11
Start:
94,415,578 bp from pter
End:
94,512,185 bp from pter
Size:
96,608 bases
Orientation:
Minus strand

Genomic View for MRE11A Gene

Genes around MRE11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRE11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRE11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRE11A Gene

Proteins for MRE11A Gene

  • Protein details for MRE11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49959-MRE11_HUMAN
    Recommended name:
    Double-strand break repair protein MRE11A
    Protein Accession:
    P49959
    Secondary Accessions:
    • B3KTC7
    • O43475

    Protein attributes for MRE11A Gene

    Size:
    708 amino acids
    Molecular mass:
    80593 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN (By similarity). Interacts with DCLRE1C/Artemis and DCLRE1B/Apollo. Interacts with ATF2. Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).
    Miscellaneous:
    • In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.

    Three dimensional structures from OCA and Proteopedia for MRE11A Gene

    Alternative splice isoforms for MRE11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRE11A Gene

Proteomics data for MRE11A Gene at MOPED

Post-translational modifications for MRE11A Gene

  • Ubiquitination at Lys 393, Lys 416, Lys 434, Lys 442, Lys 475, and Lys 673
  • Modification sites at PhosphoSitePlus

Other Protein References for MRE11A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MRE11A (MRE11A)
  • Cloud-Clone Corp. Antibodies for MRE11A

No data available for DME Specific Peptides for MRE11A Gene

Domains & Families for MRE11A Gene

Graphical View of Domain Structure for InterPro Entry

P49959

UniProtKB/Swiss-Prot:

MRE11_HUMAN :
  • Belongs to the MRE11/RAD32 family.
Family:
  • Belongs to the MRE11/RAD32 family.
genes like me logo Genes that share domains with MRE11A: view

No data available for Gene Families for MRE11A Gene

Function for MRE11A Gene

Molecular function for MRE11A Gene

GENATLAS Biochemistry:
meiotic recombination 11 (yeast RAD52 epistasis group),also involved in DNA double strand break repair
UniProtKB/Swiss-Prot Function:
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3-5 exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation.

Gene Ontology (GO) - Molecular Function for MRE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0004520 endodeoxyribonuclease activity TAS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MRE11A: view
genes like me logo Genes that share phenotypes with MRE11A: view

Human Phenotype Ontology for MRE11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MRE11A Gene

MGI Knock Outs for MRE11A:

Animal Model Products

CRISPR Products

miRNA for MRE11A Gene

miRTarBase miRNAs that target MRE11A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MRE11A Gene

Localization for MRE11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRE11A Gene

Nucleus. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRE11A Gene COMPARTMENTS Subcellular localization image for MRE11A gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for MRE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016605 PML body IEA,ISS --
genes like me logo Genes that share ontologies with MRE11A: view

Pathways & Interactions for MRE11A Gene

genes like me logo Genes that share pathways with MRE11A: view

SIGNOR curated interactions for MRE11A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MRE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination TAS 8530104
GO:0000732 strand displacement TAS --
GO:0006260 DNA replication TAS --
GO:0006974 cellular response to DNA damage stimulus IDA 17500065
GO:0007062 sister chromatid cohesion IMP 15917200
genes like me logo Genes that share ontologies with MRE11A: view

Drugs & Compounds for MRE11A Gene

(4) Drugs for MRE11A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Pharma 32

(2) Additional Compounds for MRE11A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MRE11A: view

Transcripts for MRE11A Gene

Unigene Clusters for MRE11A Gene

MRE11 meiotic recombination 11 homolog A (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MRE11A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1: - - -
SP2: - -
SP3: - - -
SP4: - -

Relevant External Links for MRE11A Gene

GeneLoc Exon Structure for
MRE11A
ECgene alternative splicing isoforms for
MRE11A

Expression for MRE11A Gene

mRNA expression in normal human tissues for MRE11A Gene

Protein differential expression in normal tissues from HIPED for MRE11A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.2) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MRE11A Gene



SOURCE GeneReport for Unigene cluster for MRE11A Gene Hs.192649

genes like me logo Genes that share expression patterns with MRE11A: view

Protein tissue co-expression partners for MRE11A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MRE11A Gene

Orthologs for MRE11A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRE11A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GPR83 35
  • 89.86 (n)
  • 91.65 (a)
MRE11A 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MRE11A 35
  • 92.33 (n)
  • 93.79 (a)
MRE11A 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mre11a 35
  • 84.02 (n)
  • 88.65 (a)
Mre11a 16
Mre11a 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MRE11A 35
  • 98.82 (n)
  • 98.45 (a)
MRE11A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mre11a 35
  • 83.31 (n)
  • 88.79 (a)
oppossum
(Monodelphis domestica)
Mammalia MRE11A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRE11A 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRE11A 35
  • 72.83 (n)
  • 73.35 (a)
MRE11A 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRE11A 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mre11a 35
  • 68.86 (n)
  • 73.29 (a)
African clawed frog
(Xenopus laevis)
Amphibia mre11-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii mre11a 35
  • 66.34 (n)
  • 68.98 (a)
wufc38f05 35
fruit fly
(Drosophila melanogaster)
Insecta mre11 37
  • 44 (a)
mre11 35
  • 50.47 (n)
  • 46.96 (a)
mre11 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006797 35
  • 48.36 (n)
  • 41.19 (a)
worm
(Caenorhabditis elegans)
Secernentea mre-11 37
  • 39 (a)
mre-11 35
  • 52.52 (n)
  • 42.45 (a)
mre-11 36
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR553C 35
  • 47.03 (n)
  • 40.88 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06930g 35
  • 54.7 (n)
  • 45.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRE11 35
  • 52.41 (n)
  • 44.98 (a)
MRE11 36
  • 35 (a)
OneToOne
MRE11 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MRE11 35
  • 49.36 (n)
  • 43.03 (a)
rice
(Oryza sativa)
Liliopsida Os04g0635900 35
  • 52.19 (n)
  • 46.82 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4753 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08730 35
  • 50.64 (n)
  • 43.64 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad32 35
  • 54.22 (n)
  • 46.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for MRE11A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRE11A Gene

ENSEMBL:
Gene Tree for MRE11A (if available)
TreeFam:
Gene Tree for MRE11A (if available)

Paralogs for MRE11A Gene

Pseudogenes.org Pseudogenes for MRE11A Gene

genes like me logo Genes that share paralogs with MRE11A: view

No data available for Paralogs for MRE11A Gene

Variants for MRE11A Gene

Sequence variations from dbSNP and Humsavar for MRE11A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_008513 Ataxia-telangiectasia-like disorder 1 (ATLD1)
VAR_011625 Cancer
rs147771140 - 94,478,810(+) AGACA(C/T)TGAAC nc-transcript-variant, reference, missense
VAR_011627 Cancer
rs200085146 Cancer 94,447,287(+) TTCCT(C/T)GGCCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MRE11A Gene

Variant ID Type Subtype PubMed ID
nsv523083 CNV Gain 19592680
nsv832233 CNV Gain 17160897
esv2671948 CNV Deletion 23128226
nsv443 CNV Insertion 18451855
esv2575562 CNV Deletion 19546169
nsv820080 CNV Loss 19587683

Variation tolerance for MRE11A Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRE11A Gene

HapMap Linkage Disequilibrium report
MRE11A
Human Gene Mutation Database (HGMD)
MRE11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRE11A Gene

Disorders for MRE11A Gene

MalaCards: The human disease database

(10) MalaCards diseases for MRE11A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia-like disorder
  • ataxia-telangiectasia-like syndrome
ataxia-telangiectasia
  • ataxia telangiectasia
nijmegen breakage syndrome
  • berlin breakage syndrome
cerebellar degeneration
werner syndrome
  • adult premature ageing syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MRE11_HUMAN
  • Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391]: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. {ECO:0000269 PubMed:10612394}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in MRE11A can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. A homozygous truncating mutation MRE11A has been found in patients with cerebellar vermis hypoplasia, ataxia and dysarthria. {ECO:0000269 PubMed:22863007}.

Relevant External Links for MRE11A

Genetic Association Database (GAD)
MRE11A
Human Genome Epidemiology (HuGE) Navigator
MRE11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRE11A
genes like me logo Genes that share disorders with MRE11A: view

No data available for Genatlas for MRE11A Gene

Publications for MRE11A Gene

  1. Isolation and characterization of the human MRE11 homologue. (PMID: 8530104) Petrini J.H.J. … Weaver D.T. (Genomics 1995) 2 3 4 23 67
  2. DNA double-strand break repair pathway choice is directed by distinct MRE11 nuclease activities. (PMID: 24316220) Shibata A. … Tainer J.A. (Mol. Cell 2014) 2 3
  3. Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. (PMID: 20087742) Oba D. … Mizutani S. (Acta Neuropathol. 2010) 3 23
  4. Analysis of the expression of human tumor antigens in ovarian cancer tissues. (PMID: 20164540) Ali-Fehmi R. … Tainsky M.A. (Cancer Biomark 2010) 3 23
  5. RAD50 and NBS1 form a stable complex functional in DNA binding and tethering. (PMID: 19151086) van der Linden E. … Wyman C. (Nucleic Acids Res. 2009) 3 23

Products for MRE11A Gene

Sources for MRE11A Gene

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