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

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; AllianceGenome:HGNC:7230
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: mouse all
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Genomic context

Location:: 11q21

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (94415570..94512412, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (94422612..94519751, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (94148736..94227010, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres.
Title: Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres.
MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.
Title: MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.
MRE11A: a novel negative regulator of human DNA mismatch repair.
Title: MRE11A: a novel negative regulator of human DNA mismatch repair.
Metabolic regulation of homologous recombination repair by MRE11 lactylation.
Title: Metabolic regulation of homologous recombination repair by MRE11 lactylation.
MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
Title: MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
Disordered regions mediate the interaction of p53 and MRE11.
Title: Disordered regions mediate the interaction of p53 and MRE11.
High Expression of MRE11A Is Associated with Shorter Survival and a Higher Risk of Death in CRC Patients.
Title: High Expression of MRE11A Is Associated with Shorter Survival and a Higher Risk of Death in CRC Patients.
An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
Title: An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
Title: RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
High MRE11 Expression Level Predicts Poor Survival in Upper Tract Urothelial Carcinomas.
Title: High MRE11 Expression Level Predicts Poor Survival in Upper Tract Urothelial Carcinomas.

Submit: New GeneRIF Correction See all GeneRIFs (201)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ataxia-telangiectasia-like disorder 1 MedGen: C4012790 OMIM: 604391 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S1058 (e-PCR)
- UniSTS:65030

PMC138375P1 (e-PCR)
- UniSTS:270867

G67220 (e-PCR)
- UniSTS:186440

G67219 (e-PCR)
- UniSTS:186441

G67297 (e-PCR)
- UniSTS:186442

G67300 (e-PCR)
- UniSTS:186443

G67301 (e-PCR)
- UniSTS:186444

G67298 (e-PCR)
- UniSTS:186445

G67296 (e-PCR)
- UniSTS:186446

G67299 (e-PCR)
- UniSTS:186447

MRE11 (e-PCR)
- UniSTS:21337

D11S3482 (e-PCR)
- UniSTS:152723

WI-17886 (e-PCR)
- UniSTS:10919

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables 3'-5'-DNA exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA endonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA endonuclease activity	TAS Traceable Author Statement more info
contributes_to DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables double-stranded DNA binding	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables nuclease activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA endodeoxyribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA double-strand break processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA double-strand break processing	NAS Non-traceable Author Statement more info	PubMed
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 DNA strand resection involved in replication fork processing	NAS Non-traceable Author Statement more info	PubMed
involved_in R-loop processing	IDA Inferred from Direct Assay more info	PubMed
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
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
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 homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in meiotic DNA double-strand break formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic intra-S DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of double-strand break repair via nonhomologous end joining	IDA Inferred from Direct Assay 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
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
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 chromosomal region	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome, telomeric region	HDA more info	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 nucleus	NAS Non-traceable Author Statement more info	PubMed
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
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_007261.1 RefSeqGene

Range

5001..81575

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_85

mRNA and Protein(s)

NM_001330347.2 → NP_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:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
NM_005590.4 → NP_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:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
NM_005591.4 → NP_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

B3KTC7, O43475, P49959

Related

ENSP00000325863.4, ENST00000323929.8

Conserved Domains (3) summary

TIGR00583
Location:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

94415570..94512412 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542837.3 → XP_011541139.1 double-strand break repair protein MRE11 isoform X1

See identical proteins and their annotated locations for XP_011541139.1

UniProtKB/Swiss-Prot

B3KTC7, O43475, P49959

Conserved Domains (3) summary

TIGR00583
Location:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
XM_047426967.1 → XP_047282923.1 double-strand break repair protein MRE11 isoform X3
XM_006718842.4 → XP_006718905.1 double-strand break repair protein MRE11 isoform X2

UniProtKB/TrEMBL

F8W7U8

Related

ENSP00000376933.4, ENST00000393241.8

Conserved Domains (3) summary

TIGR00583
Location:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
XM_017017772.2 → XP_016873261.1 double-strand break repair protein MRE11 isoform X1

UniProtKB/Swiss-Prot

B3KTC7, O43475, P49959

Conserved Domains (3) summary

TIGR00583
Location:10 → 402

mre11; DNA repair protein (mre11)

cd00840
Location:14 → 275

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:295 → 461

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
XM_005274008.4 → XP_005274065.1 double-strand break repair protein MRE11 isoform X4

Conserved Domains (2) summary

cd00840
Location:17 → 119

MPP_Mre11_N; Mre11 nuclease, N-terminal metallophosphatase domain

pfam04152
Location:139 → 305

Mre11_DNA_bind; Mre11 DNA-binding presumed domain
XM_047426968.1 → XP_047282924.1 double-strand break repair protein MRE11 isoform X5

RNA

XR_007062484.1 RNA Sequence
XR_007062482.1 RNA Sequence
XR_007062483.1 RNA Sequence
XR_947828.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

94422612..94519751 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368841.1 → XP_054224816.1 double-strand break repair protein MRE11 isoform X1

UniProtKB/Swiss-Prot

B3KTC7, O43475, P49959
XM_054368843.1 → XP_054224818.1 double-strand break repair protein MRE11 isoform X3
XM_054368842.1 → XP_054224817.1 double-strand break repair protein MRE11 isoform X2

UniProtKB/TrEMBL

F8W7U8
XM_054368840.1 → XP_054224815.1 double-strand break repair protein MRE11 isoform X1

UniProtKB/Swiss-Prot

B3KTC7, O43475, P49959
XM_054368844.1 → XP_054224819.1 double-strand break repair protein MRE11 isoform X4
XM_054368845.1 → XP_054224820.1 double-strand break repair protein MRE11 isoform X5