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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]
MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease) is a Protein Coding gene. Diseases associated with MRE11 include Ataxia-Telangiectasia-Like Disorder 1 and Nijmegen Breakage Syndrome-Like Disorder. Among its related pathways are ATM Pathway and Homologous DNA Pairing and Strand Exchange.
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:0003678 | contributes_to DNA helicase activity | IMP | 15790808 |
GO:0003690 | double-stranded DNA binding | TAS | -- |
GO:0004518 | nuclease activity | IEA,TAS | 15790808 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | colocalizes_with chromosome, telomeric region | IDA | 15149599 |
GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IBA,ISS | -- |
GO:0005634 | nucleus | IEA,TAS | -- |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005657 | replication fork | IDA | 29290612 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000019 | regulation of mitotic recombination | TAS | 8530104 |
GO:0000723 | telomere maintenance | IBA | 21873635 |
GO:0000724 | double-strand break repair via homologous recombination | TAS | -- |
GO:0000729 | DNA double-strand break processing | TAS | -- |
GO:0006260 | DNA replication | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Manganese | Approved | Nutra | 56 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MRE11A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MRE11A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MRE11A 31 |
|
OneToOne | |
GPR83 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MRE11A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MRE11A 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mre11a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mre11a 30 |
|
||
Chicken (Gallus gallus) |
Aves | MRE11A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MRE11A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mre11a 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | mre11-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mre11a 30 |
|
||
wufc38f05 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mre11 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006797 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mre-11 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C06930g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MRE11 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR553C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MRE11 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0635900 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rad32 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08730 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4753 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638600 | Likely Pathogenic: Ataxia-telangiectasia-like disorder 1 | 94,455,248(-) | GTCTCCTCATTTATAA | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
641005 | Uncertain Significance: Ataxia-telangiectasia-like disorder | 94,467,824(-) | C/T | MISSENSE_VARIANT | |
642476 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder | 94,445,843(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
643735 | Uncertain Significance: Ataxia-telangiectasia-like disorder | 94,470,518(-) | C/G | MISSENSE_VARIANT | |
647222 | Uncertain Significance: Ataxia-telangiectasia-like disorder | 94,420,135(-) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ataxia-telangiectasia-like disorder 1 |
|
|
nijmegen breakage syndrome-like disorder |
|
|
ovarian cancer |
|
|
inherited cancer-predisposing syndrome |
|
|
ataxia-telangiectasia |
|