Property Summary

NCBI Gene PubMed Count 88
PubMed Score 403.85
PubTator Score 250.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
malignant mesothelioma 1.300 5.3e-07
osteosarcoma -1.487 3.1e-02
glioblastoma 2.200 2.4e-05
group 3 medulloblastoma 2.500 1.6e-05
atypical teratoid / rhabdoid tumor 2.000 1.4e-09
medulloblastoma, large-cell 3.100 4.7e-07
primitive neuroectodermal tumor 2.100 1.9e-04
non-small cell lung cancer 2.099 4.9e-25
lung cancer 3.500 1.8e-06
colon cancer 1.800 6.6e-04
lung adenocarcinoma 1.800 3.2e-08
pediatric high grade glioma 1.600 2.1e-05
Breast cancer 1.300 1.4e-10
ductal carcinoma in situ 1.300 6.9e-03
invasive ductal carcinoma 1.900 1.1e-03
ovarian cancer 1.300 8.2e-11
psoriasis 1.600 2.3e-91

 GWAS Trait (1)

Gene RIF (74)

PMID Text
27098497 CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent DNA repair resection.
26221031 EXO1 and FEN1 cleaved the substrate at the boundary between the single-stranded 5' flap and the duplex, whereas FAN1 incised it three to four nucleotides in the double-stranded region.
26215063 MSH2, MSH6, and EXO1 genes were overexpressed in gastroesophageal cancers.
25833945 14-3-3 proteins restrain the Exo1 nuclease to prevent over-resection in end joining
25598504 Our data present, for the first time, evidence that inherited MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A, and EXO1 c.1765G>A abnormalities of DNA MMR pathway are important determinants of head and neck squamous cell carcinoma
24829445 This study reports that, contrary to earlier reports, and unlike the catalytic site mutant D173A, the EXO1 E109K variant resembled the wild-type enzyme on all tested substrates.
24824601 FOXM1 is upregulated in chemoresistant ovarian cancer samples, and defends ovarian cancer cells against cytotoxicity of cisplatin. FOXM1 facilitates DNA repair through regulating EXO1 to protect ovarian cancer cells from cisplatin-mediated apoptosis.
24761866 EXO1 Glu589Lys polymorphism is not associated with overall cancer susceptibility.
24705021 In summary, phosphorylation of EXO1 by CDKs is a novel mechanism regulating repair pathway choice.
24204293 These studies establish that the Mlh1-Pms1 endonuclease is required for MMR in a previously uncharacterized Exo1-independent MMR pathway.
23835406 In G1 arrested cells that histone H2A phosphorylation, in response to ionizing radiation, is independent of Sgs1 and Exo1.
23754438 This mouse transgene line carries an Exo1-null knockout mutation leading to the complete loss of EXO1 protein expression (termed Exo1(null); Exo1-mutant lines show defects in DNA damage response.
22987153 EXO1 deficiency leads to ICL sensitivity but does not increase ICL sensitivity in the absence of FANCD2.
22326273 Exo1 as a key mediator of DNA end resection and DSB repair and damage signaling decisions in human cells
22296401 No statistically significant differences were found in the allele or genotype distributions of the Exo 1 T439M polymorphism among HCC and cancer-free control subjects (P>0.05).
22230721 A promoter region SNP in the editing and processing nucleases gene EXO1 was associated with decreased expression of EXO1 and decreased melanoma risk.
22222486 direct and robust interaction between hEXO1 and six of the seven 14-3-3 isoforms, is demonstrated.
22205538 The Lys/Lys homozygote genotype of Exo 1 K589E polymorphism may be a genetic susceptibility factor for hepatocellular carcinoma in the Turkish population.
22179609 Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex.
22146767 In this study, we have chosen 2 common SNPs of EXO1 and investigated the association between these 2 SNPs and the risk for cervical cancer in Chinese population by PCR-RFLP.
21862834 Gene expression intensity of exonuclease 1 as related to Aicardi- Goutie;res syndrome mutations.
21808022 a key role for hEXO1 in the UV-induced DNA damage response linking nucleotide excision repair to checkpoint activation in human cells.
21496642 Exo1 induces a sharp bend in the DNA at nicks or gaps. Frayed 5' ends of nicked duplexes resemble flap junctions, unifying the mechanisms of endo- and exonucleolytic processing.
21325134 BLM increases the affinity of EXO1 for ends, and MRN recruits and enhances the processivity of EXO1.
21052091 This study identifies new functions of CtIP and EXO1 in DNA end resection and provides new information on the regulation of DNA double-strand breaks repair pathways, which is a key factor in the maintenance of genome integrity.
20854105 The EXO1 polymorphism, P757L, was analyzed by PCR-RFLP. Patients with the Leu/Leu genotype have a reduced risk of colorectal cancer.
20854105 Observational study of gene-disease association. (HuGE Navigator)
20643645 FEN1 and EXO1 can eliminate structures formed by trinucleotide repeats in the course of replication, relying on endonucleolytic and exonucleolytic activities, respectively.
20453000 Observational study of gene-disease association. (HuGE Navigator)
20447876 WRN helicase operates in an EXO1-dependent pathway to help cells survive replicational stress.
20429728 study found in gastric and colorectal cancers that EXO1 gene harbored somatic frameshift mutations within the mononucleotide repeats in the coding sequences; these mutations were found in the cancers with microsatellite instability
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20337148 The A allele of the Exo1 K589E may be associated with the development of gastric cancer and may be a novel and useful marker for primary prevention and anticancer intervention.
20337148 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20126648 results suggest that EXO1 may act at transcription-induced telomeric structures to promote telomere recombination while FEN1 has a dominant role in lagging strand replication at telomeres
20019063 Exo1 is phosphorylated after DNA damage and this event is required for the subsequent recruitment of other DNA repair proteins and homologous recombination
19846925 Results provide evidence that the A allele of EXO1 K589E may be associated with the development of breast cancer and may be a useful biomarker for breast cancer detection and primary prevention.
19846925 Observational study of gene-disease association. (HuGE Navigator)
19698732 A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19626040 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19515603 Gene-environment interactions with smoking were significant for Exo1 K589E polymorphism (OR=2.509, 95% CI=1.914-3.287) and results provide evidence that the A allele of the Exo1 K589E may be associated with the development of oral cancer.
19515603 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19331228 Results provide evidence that the A allele of Exo1 K589E may be associated with the development of lung cancer.
19331228 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19074885 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19015241 The site S2 in Mlh1 mediates Exo1 recruitment in order to optimize mismatch repair-dependent mutation avoidance.
19012493 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18971343 Stimulation of DNA resection by hExo1 is independent of BLM helicase activity and is, instead, mediated by an interaction between the 2 proteins
18940926 robust cleavage by human exonuclease 1 of transcribed G-rich DNA sequences with potential to form G loops and G4 DNA; Predicted Ig switch recombination intermediates are substrates for both exonucleolytic and 5' flap endonucleolytic cleavage
18676680 Observational study of gene-disease association. (HuGE Navigator)
18559551 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18205772 Observational study of gene-disease association. (HuGE Navigator)
18079015 single nucleotide polymorphisms are associated with risk of lung cancer in chinese population
18079015 Observational study of gene-disease association. (HuGE Navigator)
18048416 EXO1 stability is dependent on phosphorylation by an ATR kinase pathway.
17855454 Observational study of gene-disease association. (HuGE Navigator)
17656264 MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria.
17426132 hEXO1, hMLH1 and hMSH2 form complexes and are imported to the nucleus together, and that redundant nuclear localization signals in the proteins may safeguard nuclear import and thereby mismatch repair activity.
16195237 Observational study of gene-disease association. (HuGE Navigator)
15550454 Observational study of gene-disease association. (HuGE Navigator)
15550454 there is an association of EXO1 gene polymorphisms with colorectal cancer risk.
15328369 REVIEW: role in cancer?
14756672 hPMS2 accounts for a small proportion of Hereditary non-polyposis colorectal cancer families, and none were deemed to be associated with hEXO1
12704184 The functional interaction between WRN and EXO-1 is mediated by a protein domain of WRN which interacts with flap endonuclease 1.
12517792 Observational study of gene-disease association. (HuGE Navigator)
12517792 Several EXO1 variants observed in patients were also observed in controls with similar frequencies, including the truncating variant proposed previously to be a disease-causing mutation
12414623 Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
11842105 structural analysis of interactions of Exo1 with DNA
11809771 requirement for in 5' and 3' mismatch repair

AA Sequence

MGIQGLLQFIKEASEPIHVRKYKGQVVAVDTYCWLHKGAIACAEKLAKGEPTDRYVGFCMKFVNMLLSHG      1 - 70
IKPILVFDGCTLPSKKEVERSRRERRQANLLKGKQLLREGKVSEARECFTRSINITHAMAHKVIKAARSQ     71 - 140
GVDCLVAPYEADAQLAYLNKAGIVQAIITEDSDLLAFGCKKVILKMDQFGNGLEIDQARLGMCRQLGDVF    141 - 210
TEEKFRYMCILSGCDYLSSLRGIGLAKACKVLRLANNPDIVKVIKKIGHYLKMNITVPEDYINGFIRANN    211 - 280
TFLYQLVFDPIKRKLIPLNAYEDDVDPETLSYAGQYVDDSIALQIALGNKDINTFEQIDDYNPDTAMPAH    281 - 350
SRSHSWDDKTCQKSANVSSIWHRNYSPRPESGTVSDAPQLKENPSTVGVERVISTKGLNLPRKSSIVKRP    351 - 420
RSAELSEDDLLSQYSLSFTKKTKKNSSEGNKSLSFSEVFVPDLVNGPTNKKSVSTPPRTRNKFATFLQRK    421 - 490
NEESGAVVVPGTRSRFFCSSDSTDCVSNKVSIQPLDETAVTDKENNLHESEYGDQEGKRLVDTDVARNSS    491 - 560
DDIPNNHIPGDHIPDKATVFTDEESYSFESSKFTRTISPPTLGTLRSCFSWSGGLGDFSRTPSPSPSTAL    561 - 630
QQFRRKSDSPTSLPENNMSDVSQLKSEESSDDESHPLREEACSSQSQESGEFSLQSSNASKLSQCSSKDS    631 - 700
DSEESDCNIKLLDSQSDQTSKLRLSHFSKKDTPLRNKVPGLYKSSSADSLSTTKIKPLGPARASGLSKKP    701 - 770
ASIQKRKHHNAENKPGLQIKLNELWKNFGFKKDSEKLPPCKKPLSPVRDNIQLTPEAEEDIFNKPECGRV    771 - 840
QRAIFQ                                                                    841 - 846
//

Text Mined References (95)

PMID Year Title
27098497 2016 CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent resection.
26221031 2015 FANCD2-associated nuclease 1, but not exonuclease 1 or flap endonuclease 1, is able to unhook DNA interstrand cross-links in vitro.
26215063 2015 Mismatch repair gene expression in gastroesophageal cancers.
25833945 2015 14-3-3 proteins restrain the Exo1 nuclease to prevent overresection.
25598504 2015 Association between genetic polymorphisms in DNA mismatch repair-related genes with risk and prognosis of head and neck squamous cell carcinoma.
24829445 2014 Biochemical characterization of a cancer-associated E109K missense variant of human exonuclease 1.
24824601 2014 FOXM1 modulates cisplatin sensitivity by regulating EXO1 in ovarian cancer.
24761866 2014 The exonuclease 1 Glu589Lys gene polymorphism and cancer susceptibility: evidence based on a meta-analysis.
24705021 2014 Phosphorylation of EXO1 by CDKs 1 and 2 regulates DNA end resection and repair pathway choice.
24204293 2013 Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.
23835406 2013 DNA resection proteins Sgs1 and Exo1 are required for G1 checkpoint activation in budding yeast.
23754438 2013 Mammalian Exo1 encodes both structural and catalytic functions that play distinct roles in essential biological processes.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22987153 2012 DNA2 and EXO1 in replication-coupled, homology-directed repair and in the interplay between HDR and the FA/BRCA network.
22326273 2012 Exo1 plays a major role in DNA end resection in humans and influences double-strand break repair and damage signaling decisions.
22296401 2011 No association of the exonuclease 1 T439M polymorphism and risk of hepatocellular carcinoma development in the Turkish population: a case-control study.
22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
22230721 2012 Exonuclease 1 (EXO1) gene variation and melanoma risk.
22222486 2012 14-3-3 checkpoint regulatory proteins interact specifically with DNA repair protein human exonuclease 1 (hEXO1) via a semi-conserved motif.
22205538 2012 The significance of Exonuclease 1 K589E polymorphism on hepatocellular carcinoma susceptibility in the Turkish population: a case-control study.
22179609 2012 Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex.
22146767 2012 A single nucleotide polymorphism in EXO1 gene is associated with cervical cancer susceptibility in Chinese patients.
21862834 2012 Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
21808022 2011 Human exonuclease 1 connects nucleotide excision repair (NER) processing with checkpoint activation in response to UV irradiation.
21496642 2011 Structures of human exonuclease 1 DNA complexes suggest a unified mechanism for nuclease family.
21325134 2011 BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.
21052091 2010 DNA end resection by CtIP and exonuclease 1 prevents genomic instability.
20854105 2010 Impact of EXO1 polymorphism in susceptibility to colorectal cancer.
20643645 2010 Complementary roles for exonuclease 1 and Flap endonuclease 1 in maintenance of triplet repeats.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20447876 2010 Delineation of WRN helicase function with EXO1 in the replicational stress response.
20429728 2010 Somatic mutation of EXO1 gene in gastric and colorectal cancers with microsatellite instability.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20337148 2009 Single-nucleotide polymorphism of the Exo1 gene: association with gastric cancer susceptibility and interaction with smoking in Taiwan.
20126648 2010 Distinct activities of exonuclease 1 and flap endonuclease 1 at telomeric g4 DNA.
20019063 2010 Phosphorylation of Exo1 modulates homologous recombination repair of DNA double-strand breaks.
19846925 2009 Association of genetic polymorphisms of EXO1 gene with risk of breast cancer in Taiwan.
19698732 2009 A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19626040 2009 Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19515603 2009 Interaction of Exo1 genotypes and smoking habit in oral cancer in Taiwan.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19331228 2009 Lung cancer susceptibility and genetic polymorphisms of Exo1 gene in Taiwan.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
19015241 2009 Characterization of a highly conserved binding site of Mlh1 required for exonuclease I-dependent mismatch repair.
19012493 2009 Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.
18971343 2008 Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair.
18940926 2008 Activities of human exonuclease 1 that promote cleavage of transcribed immunoglobulin switch regions.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18559551 2008 Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18205772 2008 Influence of cancer-related gene polymorphisms on clinicopathological features in colorectal cancer.
18079015 2008 Potentially functional polymorphisms of EXO1 and risk of lung cancer in a Chinese population: A case-control analysis.
18048416 2008 ATR-dependent pathways control hEXO1 stability in response to stalled forks.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17855454 2007 Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.
17656264 2007 MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17426132 2007 Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1).
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16195237 2006 Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.
16143102 2005 Reconstitution of 5'-directed human mismatch repair in a purified system.
15886194 2005 RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination.
15550454 2005 Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15328369 2004 Is hEXO1 a cancer predisposing gene?
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15225546 2004 A defined human system that supports bidirectional mismatch-provoked excision.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14756672 2004 Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
14676842 2004 Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA.
14636568 2003 Mechanism of 5'-directed excision in human mismatch repair.
14623461 2003 Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.
12704184 2003 The exonucleolytic and endonucleolytic cleavage activities of human exonuclease 1 are stimulated by an interaction with the carboxyl-terminal region of the Werner syndrome protein.
12517792 2003 EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12414623 2002 Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
11842105 2002 Molecular interactions of human Exo1 with DNA.
11809771 2002 Human exonuclease I is required for 5' and 3' mismatch repair.
11429708 2001 HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.
11427529 2001 The interaction of DNA mismatch repair proteins with human exonuclease I.
11375940 2001 Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
10856833 2000 Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis.
10608837 1999 The RAD2 domain of human exonuclease 1 exhibits 5' to 3' exonuclease and flap structure-specific endonuclease activities.
10364235 1999 Human exonuclease 1 functionally complements its yeast homologues in DNA recombination, RNA primer removal, and mutation avoidance.
9823303 1998 Identification of a human gene encoding a homologue of Saccharomyces cerevisiae EXO1, an exonuclease implicated in mismatch repair and recombination.
9788596 1998 Human exonuclease I interacts with the mismatch repair protein hMSH2.
9685493 1998 Hex1: a new human Rad2 nuclease family member with homology to yeast exonuclease 1.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
2414623 1985 [Pathophysiology of ulcer disease].