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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
q21
Chromosome location (bp)
94415570 - 94493885
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases 18,19,20,21. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage 22,23,24,25,26. Within the MRN complex, MRE11 possesses both single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity 27,28,29,30,31,32,33,34,35,36,37. After DSBs, MRE11 is loaded onto DSBs sites and cleaves DNA by cooperating with RBBP8/CtIP to initiate end resection 38,39,40. MRE11 first endonucleolytically cleaves the 5' strand at DNA DSB ends to prevent non-homologous end joining (NHEJ) and licence HR 41. It then generates a single-stranded DNA gap via 3' to 5' exonucleolytic degradation to create entry sites for EXO1- and DNA2-mediated 5' to 3' long-range resection, which is required for single-strand invasion and recombination 42,43. RBBP8/CtIP specifically promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends 44,45,46. The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR 47,48,49,50. The MRN complex is also required for the processing of R-loops 51. The MRN complex is involved in the activation of the cGAS-STING pathway induced by DNA damage during tumorigenesis: the MRN complex acts by displacing CGAS from nucleosome sequestration, thereby activating it (By similarity). In telomeres the MRN complex may modulate t-loop formation 52....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Endonuclease, Exonuclease, Hydrolase, Nuclease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Host-virus interaction, Meiosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Manganese
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P49959 [Direct mapping] Double-strand break repair protein MRE11
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A0A024R395 [Target identity:100%; Query identity:100%] Double-strand break repair protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000019[regulation of mitotic recombination] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000729[DNA double-strand break processing] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003690[double-stranded DNA binding] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004527[exonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0007062[sister chromatid cohesion] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007129[homologous chromosome pairing at meiosis] GO:0007131[reciprocal meiotic recombination] GO:0008022[protein C-terminus binding] GO:0008283[cell population proliferation] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0008409[5'-3' exonuclease activity] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0030145[manganese ion binding] GO:0030870[Mre11 complex] GO:0031573[mitotic intra-S DNA damage checkpoint signaling] GO:0031860[telomeric 3' overhang formation] GO:0031954[positive regulation of protein autophosphorylation] GO:0032206[positive regulation of telomere maintenance] GO:0032508[DNA duplex unwinding] GO:0033674[positive regulation of kinase activity] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042138[meiotic DNA double-strand break formation] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045296[cadherin binding] GO:0051276[chromosome organization] GO:0051321[meiotic cell cycle] GO:0070533[BRCA1-C complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0097552[mitochondrial double-strand break repair via homologous recombination] GO:0098687[chromosomal region] GO:0110025[DNA strand resection involved in replication fork processing]
P49959 [Direct mapping] Double-strand break repair protein MRE11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000019[regulation of mitotic recombination] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000729[DNA double-strand break processing] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003690[double-stranded DNA binding] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004527[exonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0007062[sister chromatid cohesion] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007131[reciprocal meiotic recombination] GO:0008022[protein C-terminus binding] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0008409[5'-3' exonuclease activity] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0030145[manganese ion binding] GO:0030870[Mre11 complex] GO:0031573[mitotic intra-S DNA damage checkpoint signaling] GO:0031860[telomeric 3' overhang formation] GO:0031954[positive regulation of protein autophosphorylation] GO:0032206[positive regulation of telomere maintenance] GO:0032508[DNA duplex unwinding] GO:0033674[positive regulation of kinase activity] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042138[meiotic DNA double-strand break formation] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045296[cadherin binding] GO:0051321[meiotic cell cycle] GO:0070533[BRCA1-C complex] GO:0097552[mitochondrial double-strand break repair via homologous recombination] GO:0098687[chromosomal region] GO:0110025[DNA strand resection involved in replication fork processing]
F8W7U8 [Direct mapping] Double-strand break repair protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
P49959 [Direct mapping] Double-strand break repair protein MRE11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000019[regulation of mitotic recombination] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000729[DNA double-strand break processing] GO:0000781[chromosome, telomeric region] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003690[double-stranded DNA binding] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0004520[endodeoxyribonuclease activity] GO:0004527[exonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0007062[sister chromatid cohesion] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007131[reciprocal meiotic recombination] GO:0008022[protein C-terminus binding] GO:0008296[3'-5'-exodeoxyribonuclease activity] GO:0008408[3'-5' exonuclease activity] GO:0008409[5'-3' exonuclease activity] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0030145[manganese ion binding] GO:0030870[Mre11 complex] GO:0031573[mitotic intra-S DNA damage checkpoint signaling] GO:0031860[telomeric 3' overhang formation] GO:0031954[positive regulation of protein autophosphorylation] GO:0032206[positive regulation of telomere maintenance] GO:0032508[DNA duplex unwinding] GO:0033674[positive regulation of kinase activity] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042138[meiotic DNA double-strand break formation] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045296[cadherin binding] GO:0051321[meiotic cell cycle] GO:0070533[BRCA1-C complex] GO:0097552[mitochondrial double-strand break repair via homologous recombination] GO:0098687[chromosomal region] GO:0110025[DNA strand resection involved in replication fork processing]
F5H256 [Direct mapping] Double-strand break repair protein MRE11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
F5H742 [Direct mapping] Double-strand break repair protein MRE11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
F5GXT0 [Direct mapping] Double-strand break repair protein MRE11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
