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Aliases for MRE11 Gene

Aliases for MRE11 Gene

  • MRE11 Homolog, Double Strand Break Repair Nuclease 2 3 5
  • MRE11 Homolog A, Double Strand Break Repair Nuclease 2 3
  • Double-Strand Break Repair Protein MRE11A 3 4
  • Meiotic Recombination 11 Homolog 1 3 4
  • Meiotic Recombination 11 Homolog A 3 4
  • AT-Like Disease 2 3
  • MRE11 Homolog 1 3 4
  • MRE11A 3 4
  • HNGS1 3 4
  • MRE11 Meiotic Recombination 11 Homolog A (S. Cerevisiae) 2
  • MRE11 Homolog, Double Strand Break Repair Nuclease A 3
  • MRE11 Meiotic Recombination 11-Like Protein A 3
  • MRE11 Double Strand Break Repair Nuclease A 3
  • MRE11 Meiotic Recombination 11 Homolog A 3
  • Double-Strand Break Repair Protein MRE11 3
  • DNA Recombination And Repair Protein 3
  • Endo/Exonuclease Mre11 3
  • MRE11 Homolog A 4
  • MRE11B 3
  • ATLD 3

External Ids for MRE11 Gene

Previous HGNC Symbols for MRE11 Gene

  • MRE11A

Summaries for MRE11 Gene

Entrez Gene Summary for MRE11 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]

CIViC summary for MRE11 Gene

GeneCards Summary for MRE11 Gene

MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease) is a Protein Coding gene. Diseases associated with MRE11 include Ataxia-Telangiectasia-Like Disorder and Ataxia-Telangiectasia. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).

UniProtKB/Swiss-Prot for MRE11 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 MRE11. 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 MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).

Gene Wiki entry for MRE11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRE11 Gene

Genomics for MRE11 Gene

Regulatory Elements for MRE11 Gene

Enhancers for MRE11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G094472 1.1 Ensembl ENCODE 75.3 +38.8 38830 1.9 TBP PKNOX1 TBL1XR1 BMI1 ZBTB40 CBX5 RELB IKZF2 CREM CBFB MRE11 ENSG00000255893 MIR548L
GH11G094448 0.8 ENCODE 62.8 +62.6 62563 1.4 SOX13 FOXA2 JUN SIN3A CEBPG RARA FOXK2 FOS PRDM10 MIXL1 MRE11 ANKRD49 ENSG00000255893 MIR548L GPR83
GH11G094492 1.1 ENCODE 30.4 +18.3 18288 2.5 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ENSG00000255893 MRE11 ANKRD49
GH11G093783 1.1 ENCODE 25.6 +727.5 727455 2.6 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF548 C11orf54 SNORA1 MED17 MRE11 ANKRD49 SNORA40 SNORA18 SNORA25 SNORA32 SNORA8
GH11G094504 0.8 ENCODE 32 +7.3 7296 0.2 CTCF KLF1 PKNOX1 FOXA2 ZIC2 RAD21 GLIS2 SMC3 KLF7 ZNF548 MED17 MRE11 ANKRD49 SNORA1 FUT4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRE11 on UCSC Golden Path with GeneCards custom track

Promoters for MRE11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043463 -216 800 HDAC1 PKNOX1 MXI1 SAP130 ZFP64 SIN3A ARID4B BMI1 ZIC2 HBP1

Genomic Location for MRE11 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 MRE11 Gene

Genes around MRE11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRE11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRE11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRE11 Gene

Proteins for MRE11 Gene

  • Protein details for MRE11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49959-MRE11_HUMAN
    Recommended name:
    Double-strand break repair protein MRE11
    Protein Accession:
    P49959
    Secondary Accessions:
    • B3KTC7
    • O43475

    Protein attributes for MRE11 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/MRE11 associated with a single NBN (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:10839544). Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165). Found in a complex with TERF2 (PubMed:10888888). Interacts with DCLRE1C/Artemis and DCLRE1B/Apollo (PubMed:15456891, PubMed:15723659). Interacts with ATF2 (PubMed:15916964). Interacts with EXD2 (PubMed:26807646). Interacts with MRNIP (PubMed:27568553).
    • (Microbial infection) 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 MRE11 Gene

    Alternative splice isoforms for MRE11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRE11 Gene

Post-translational modifications for MRE11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MRE11 (MRE11A)
  • Cloud-Clone Corp. Antibodies for MRE11

No data available for DME Specific Peptides for MRE11 Gene

Domains & Families for MRE11 Gene

Gene Families for MRE11 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 MRE11: view

Function for MRE11 Gene

Molecular function for MRE11 Gene

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 MRE11. 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 MRE11 to prevent nucleolytic degradation past a given point (PubMed:9651580, PubMed:9590181, PubMed:9705271, PubMed:11741547). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).

Gene Ontology (GO) - Molecular Function for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0003677 contributes_to DNA binding IDA 15790808
GO:0003690 double-stranded DNA binding TAS 10802669
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0004518 nuclease activity IEA,TAS 15790808
genes like me logo Genes that share ontologies with MRE11: view
genes like me logo Genes that share phenotypes with MRE11: view

Human Phenotype Ontology for MRE11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MRE11 Gene

MGI Knock Outs for MRE11:

Animal Model Products

miRNA for MRE11 Gene

miRTarBase miRNAs that target MRE11

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MRE11

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MRE11 Gene

Localization for MRE11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRE11 Gene

Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269 PubMed:10783165}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRE11 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA,IEA 15149599
GO:0000784 colocalizes_with nuclear chromosome, telomeric region ISS --
GO:0005634 nucleus TAS,IEA 10802669
GO:0005654 nucleoplasm IDA,TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with MRE11: view

Pathways & Interactions for MRE11 Gene

SuperPathways for MRE11 Gene

genes like me logo Genes that share pathways with MRE11: view

SIGNOR curated interactions for MRE11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MRE11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination TAS 8530104
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
genes like me logo Genes that share ontologies with MRE11: view

Drugs & Compounds for MRE11 Gene

(4) Drugs for MRE11 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34

(2) Additional Compounds for MRE11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MRE11: view

Transcripts for MRE11 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MRE11

Alternative Splicing Database (ASD) splice patterns (SP) for MRE11 Gene

No ASD Table

Relevant External Links for MRE11 Gene

GeneLoc Exon Structure for
MRE11
ECgene alternative splicing isoforms for
MRE11

Expression for MRE11 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRE11 Gene:

MRE11

Evidence on tissue expression from TISSUES for MRE11 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MRE11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Thorax:
  • breast
Limb:
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MRE11 Gene

Orthologs for MRE11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRE11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRE11A 34 35
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia MRE11A 35 34
  • 92.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRE11A 35
  • 92 (a)
OneToOne
GPR83 34
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia MRE11A 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRE11A 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mre11a 34 16 35
  • 84.02 (n)
rat
(Rattus norvegicus)
Mammalia Mre11a 34
  • 83.31 (n)
chicken
(Gallus gallus)
Aves MRE11A 35 34
  • 72.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRE11A 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mre11a 34
  • 68.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia mre11-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii mre11a 34
  • 66.34 (n)
wufc38f05 34
fruit fly
(Drosophila melanogaster)
Insecta mre11 34 35
  • 50.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006797 34
  • 48.36 (n)
worm
(Caenorhabditis elegans)
Secernentea mre-11 34 35
  • 52.52 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06930g 34
  • 54.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRE11 34 35 37
  • 52.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR553C 34
  • 47.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MRE11 34
  • 49.36 (n)
rice
(Oryza sativa)
Liliopsida Os04g0635900 34
  • 52.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad32 34
  • 54.22 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08730 34
  • 50.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4753 34
Species where no ortholog for MRE11 was found in the sources mined by GeneCards:
  • 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 MRE11 Gene

ENSEMBL:
Gene Tree for MRE11 (if available)
TreeFam:
Gene Tree for MRE11 (if available)

Paralogs for MRE11 Gene

Pseudogenes.org Pseudogenes for MRE11 Gene

genes like me logo Genes that share paralogs with MRE11: view

No data available for Paralogs for MRE11 Gene

Variants for MRE11 Gene

Sequence variations from dbSNP and Humsavar for MRE11 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs137852760 Pathogenic, Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391] 94,479,726(-) CCTCA(A/G)CATTT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs200085146 Uncertain significance, Cancer 94,447,287(+) TTCCT(C/T)GGCCT nc-transcript-variant, reference, missense
rs372000848 Likely pathogenic, Ovarian cancer 94,470,575(+) CTGCC(A/G)CACTG nc-transcript-variant, reference, missense
rs748434421 Cancer 94,485,928(+) CTTAC(A/T)AAAAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs774057024 Uncertain significance, Cancer 94,456,331(+) TGAAA(C/T)GACGT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MRE11 Gene

Variant ID Type Subtype PubMed ID
esv2575562 CNV deletion 19546169
esv2671948 CNV deletion 23128226
nsv443 CNV insertion 18451855
nsv523083 CNV gain 19592680
nsv820080 CNV loss 19587683
nsv832233 CNV gain 17160897

Variation tolerance for MRE11 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 MRE11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRE11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRE11 Gene

Disorders for MRE11 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MRE11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia-like disorder
  • ataxia-telangiectasia-like disorder 1
ataxia-telangiectasia
  • ataxia telangiectasia
nijmegen breakage syndrome
  • berlin breakage syndrome
hereditary breast ovarian cancer
  • breast/ovarian cancer, hereditary
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search MRE11 in MalaCards View complete list of genes associated with diseases

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 MRE11 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 MRE11 has been found in patients with cerebellar vermis hypoplasia, ataxia and dysarthria. {ECO:0000269 PubMed:22863007}.

Relevant External Links for MRE11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRE11
genes like me logo Genes that share disorders with MRE11: view

No data available for Genatlas for MRE11 Gene

Publications for MRE11 Gene

  1. Isolation and characterization of the human MRE11 homologue. (PMID: 8530104) Petrini J.H.J. … Weaver D.T. (Genomics 1995) 2 3 4 22 64
  2. Alterations of the double-strand break repair gene MRE11 in cancer. (PMID: 11196167) Fukuda T. … Miyagawa K. (Cancer Res. 2001) 3 4 22 64
  3. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. (PMID: 10888888) Zhu X.-D. … de Lange T. (Nat. Genet. 2000) 3 4 22 64
  4. The 3' to 5' exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks. (PMID: 9651580) Paull T.T. … Gellert M. (Mol. Cell 1998) 3 4 22 64
  5. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PMID: 9705271) Trujillo K.M. … Sung P. (J. Biol. Chem. 1998) 3 4 22 64

Products for MRE11 Gene

  • Addgene plasmids for MRE11

Sources for MRE11 Gene

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