Property Summary

NCBI Gene PubMed Count 43
PubMed Score 63.19
PubTator Score 61.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Adenomatous Polyposis Coli 10
Disease Target Count P-value
tuberculosis 1563 2.8e-05
Disease Target Count Z-score Confidence
Colorectal adenoma 15 3.064 1.5
Disease Target Count
Familial adenomatous polyposis 3 1

Expression

  Differential Expression (1)

Disease log2 FC p
tuberculosis 1.100 2.8e-05

 GWAS Trait (1)

Gene RIF (24)

PMID Text
26559593 This study extends the description of biallelic mutations in NTHL1 beyond the single c.268C-->T,p.Q90* mutation that was observed previously.
26400813 NTH1 polymorphisms may be associated with non-small cell lung cancer pathogenesis.
25938944 A homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and colorectal cancer.
22465744 we demonstrated that hNEIL1 and hNTH1 cleave Oz sites as efficiently as 5-hydroxyuracil sites. Thus, hNEIL1 and hNTH1 can repair Oz lesions
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20574454 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20226869 Observational study of gene-disease association. (HuGE Navigator)
19414504 Downregulation of NTH1 is associated with gastric cancer.
19414504 Observational study of gene-disease association. (HuGE Navigator)
18515411 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18307537 YB-1 binds specifically to the auto-inhibitory domain of hNTH1, providing a mechanism by which YB-1 stimulates hNTH1 activity.
17923696 These observations suggest that access to sterically occluded lesions entails the partial, reversible unwrapping of DNA from the histone octamer, allowing hNTH1 to capture its DNA substrate when it is in an unwound state.
17150535 The damage specificity of human homologues of Endo III (hNTHl) and Endo VIII (hNEIL1 and hNEIL2) is compared to elucidate the repair role in cells.
16446124 Nth1 released 5R,6S 2'-deoxyribonucleoside diastereoisomer (Tg2) much more rapidly than cis 5S,6R-deoxyribonucleoside diastereoisomer (Tg1) regardless of the opposing purine. Neil1 released Thymine glycol non-stereoselectively.
16111924 hNTH1 plays two roles in the processing of radiation damages: repair of potentially lethal single lesions and generation of lethal double strand breaks at clustered damage sites.
15533839 NTH1 is a DNA glycosylase that excise 5-formyluracil, 5-hydroxymethyluracil and Thymine glycol in human cells.
15358233 search for the factors interacting with NTH1 shows GST-NTH1 fusion protein precipitates proliferating cell nuclear antigen (PCNA) and p53 as well as XPG from human cell-free extracts
14734554 hNTH1 and hNEIL1 but not hNEIL2 excised the two stereoisomers of thymine glycol (5R-Tg and 5S-Tg), but their isomer specificity was markedly different
14522981 dimerization of hNTH1 involving the N-terminal tail masks the inhibitory effect of this tail and plays a critical role in its catalytic turnover in the cell
12519758 substrate selectivity of mammalian NTH1 and the concomitant selective stimulation of activity by APE1 are indicative of selective repair of oxidative damage in different regions of the genome
12144783 recombinant hNTH1 lacking 55, 72 or 80 residues from the N terminus had four- to fivefold higher activities than the full-length enzyme
11328882 NTH1 is involved in removal of 8-oxoguanine from 8-oxoguanine/guanine mispairs in DNA

AA Sequence

MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEG      1 - 70
SDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSS     71 - 140
QTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAE    141 - 210
LVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEING    211 - 280
LLVGFGQQTCLPVHPRCHACLNQALCPAAQGL                                          281 - 312
//

Text Mined References (56)

PMID Year Title
26559593 2015 Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
26400813 2015 DNA Base-Excision Repair Genes OGG1 and NTH1 in Brazilian Lung Cancer Patients.
25938944 2015 A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22465744 2012 A DNA oligomer containing 2,2,4-triamino-5(2H)-oxazolone is incised by human NEIL1 and NTH1.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21930793 2011 Nucleosome disruption by DNA ligase III-XRCC1 promotes efficient base excision repair.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
20574454 2010 Polymorphisms in the base excision repair pathway and graft-versus-host disease.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20226869 2010 Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations.
20110254 2010 Fluorescent probes for the analysis of DNA strand scission in base excision repair.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20005182 2010 Non-specific DNA binding interferes with the efficient excision of oxidative lesions from chromatin by the human DNA glycosylase, NEIL1.
19414504 2009 Altered expression of the human base excision repair gene NTH1 in gastric cancer.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
18307537 2008 The human endonuclease III enzyme is a relevant target to potentiate cisplatin cytotoxicity in Y-box-binding protein-1 overexpressing tumor cells.
17923696 2007 Initiation of base excision repair of oxidative lesions in nucleosomes by the human, bifunctional DNA glycosylase NTH1.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17150535 2004 Damage specificity of human DNA glycosylases for oxidative pyrimidine lesions.
16446124 2006 Repair of thymine glycol by hNth1 and hNeil1 is modulated by base pairing and cis-trans epimerization.
16111924 2006 Base excision repair by hNTH1 and hOGG1: a two edged sword in the processing of DNA damage in gamma-irradiated human cells.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15533839 2005 DNA glycosylase activities for thymine residues oxidized in the methyl group are functions of the hNEIL1 and hNTH1 enzymes in human cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15358233 2004 Human NTH1 physically interacts with p53 and proliferating cell nuclear antigen.
14734554 2004 Differential specificity of human and Escherichia coli endonuclease III and VIII homologues for oxidative base lesions.
14522981 2003 In vitro and in vivo dimerization of human endonuclease III stimulates its activity.
12531031 2002 Differential intracellular localization of the human and mouse endonuclease III homologs and analysis of the sorting signals.
12519758 2003 Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12167705 2002 Targeted deletion of mNth1 reveals a novel DNA repair enzyme activity.
12144783 2002 Truncation of amino-terminal tail stimulates activity of human endonuclease III (hNTH1).
12140329 2002 Identification of 5-formyluracil DNA glycosylase activity of human hNTH1 protein.
11937636 2002 A quantitative model of human DNA base excision repair. I. Mechanistic insights.
11695910 2001 Mutation at active site lysine 212 to arginine uncouples the glycosylase activity from the lyase activity of human endonuclease III.
11380260 2001 Human endonuclease III acts preferentially on DNA damage opposite guanine residues in DNA.
11328882 2001 Escherichia coli Nth and human hNTH1 DNA glycosylases are involved in removal of 8-oxoguanine from 8-oxoguanine/guanine mispairs in DNA.
11287425 2001 Stimulation of human endonuclease III by Y box-binding protein 1 (DNA-binding protein B). Interaction between a base excision repair enzyme and a transcription factor.
10882850 2000 Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA.
10583946 1999 Quality control by DNA repair.
9927729 1999 Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase.
9890904 1999 Excision of products of oxidative DNA base damage by human NTH1 protein.
9831664 1998 Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.
9743625 1998 Cloning and characterization of a mouse homologue (mNthl1) of Escherichia coli endonuclease III.
9705289 1998 Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. Direct identification of Lys-212 as the active nucleophilic residue.
9611236 1998 Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage.
9045706 1997 Cloning and expression of the cDNA encoding the human homologue of the DNA repair enzyme, Escherichia coli endonuclease III.
8990169 1997 Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III.
8611553 1996 Purification of a mammalian homologue of Escherichia coli endonuclease III: identification of a bovine pyrimidine hydrate-thymine glycol DNAse/AP lyase by irreversible cross linking to a thymine glycol-containing oligoxynucleotide.