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Candidate genes.

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genesymbol type description chr. startpos endpos synonyms
NEIL3 protein-coding nei like DNA glycosylase 3 4 178230991 178284092 hFPG2, FLJ10858, FPG2, hNEI3, FGP2, NEI3, ZGRF3
  links NCBI   ENSEMBL  SwissProt  GeneCards   STRING   PubMed  create primers for all transcripts
  KEGG pathways Base excision repair
  PFAM GRF zinc finger, Formamidopyrimidine-DNA glycosylase H2TH domain, Zn-finger in Ran binding protein and others
  InterPro domains Zinc finger, DNA glycosylase/AP lyase-type, Zinc finger, RanBP2-type, Zinc finger, GRF-type, Ribosomal protein S13-like, H2TH, DNA glycosylase/AP lyase, catalytic domain, DNA glycosylase/AP lyase, H2TH DNA-binding, DNA glycosylase/AP lyase, zinc finger domain, DNA-binding site
  paralogs NEIL2 (10%)
  OMIM ENDONUCLEASE VIII-LIKE 3; NEIL3
text:
DESCRIPTION NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002). CLONING By searching a database for sequences similar to the Arabidopsis DNA glycosylase Fpg, Bandaru et al. (2002) identified NEIL3. Bacterial Fpg/Nei proteins contain 2 structural domains: an N-terminal 2-layered beta sandwich and a C-terminal 4-helix bundle, which includes a helix-2-turns-helix (H2TH) motif and a zinc finger. The deduced 605-amino acid human NEIL3 protein has conserved residues in 6 highly conserved regions that span both structural domains of the bacterial Fpg/Nei proteins. In addition, NEIL3 has a C-terminal extension similar to portions of topoisomerases (see TOP2A; 126430) and apurinic/apyrimidinic endonucleases (see APEX; 107748), as well as a different zinc finger motif. By searching for sequences similar to E. coli Fpg and Nei, followed by RT-PCR of HeLa cell mRNA, Morland et al. (2002) cloned NEIL3, which they designated FPG2. The deduced 605-amino acid protein has a calculated molecular mass of 67.9 kD. Unlike NEIL1 (608844), NEIL3 contains a RAN-binding protein (see 601180)-like zinc finger motif and C-terminal zinc ribbon domains. Northern blot analysis of several human tissues detected a 2.4-kb transcript only in testis and thymus. Fluorescence-tagged NEIL3 colocalized with RPA2 (179836) in the nuclei of transfected HeLa cells and was excluded from nucleoli. GENE STRUCTURE Bandaru et al. (2002) and Morland et al. (2002) determined that the NEIL3 gene contains 10 exons. Morland et al. (2002) determined that the gene spans about 55 kb. Exon 1 is embedded within a CpG island. MAPPING By genomic sequence analysis, Bandaru et al. (2002) and Morland et al. (2002) mapped the NEIL3 gene to chromosome 4q34.2.
See report at OMIM's website.

  generifs
  • hFPG1 and hFPG2 repair 8-oxoguanine and other DNA oxidation products. (hFPG1 and hFPG2)
  • Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
  • Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
  • NEIL3 partially rescues an E. coli nth nei mutant from hydrogen peroxide sensitivity. Taken together, repair of certain base damage including base loss in ssDNA may be mediated by NEIL3.
  • both the transcription and protein levels of hNEIL3 fluctuated during the cell cycle
  • Here we report the construction of bicistronic expression vectors for expressing in Escherichia coli the full-length mouse Neil3 (MmuNeil3), its glycosylase domain (MmuNeil3Delta324), as well as the glycosylase domain of human Neil3 (NEIL3Delta324).
  • Results show that the base excision and strand incision activities of NEIL3 exhibited a non-concerted action, indicating that NEIL3 mainly operates as a monofunctional DNA glycosylase.
  • one role for Neil3 and NEIL1 is to repair DNA base damages in telomeres in vivo and that Neil3 and Neil1 may function in quadruplex-mediated cellular events, such as gene regulation via removal of damaged bases from quadruplex DNA.
  • Polymorphisms within FLT3, EGFR, NEIL3, and ALOX5 may contribute to the occurrence of GBM.
  • NEIL3 rs12645561 SNP TT genotype was associated with increased risk of myocardial infarction.
  • The abnormal expressions of NEIL1, NEIL2, and NEIL3 are involved in cancer through their association with the somatic mutation load.
  • SNPs in NEIL3 are associated with impulsivity in Native American sample.
  • Results suggest a novel role for the DNA glycosylase Neil3 in atherogenesis in balancing lipid metabolism and macrophage function, potentially independently of genome-wide canonical base excision repair of oxidative DNA damage.
  • These findings demonstrate that deficiency in NEIL3 is associated with increased lymphocyte apoptosis, autoantibodies, and predisposition to autoimmunity.
  • Single nucleotide polymorphism (SNP) rs142310826 near the NEIL3 gene showed a genome-wide significant interaction with caffeine consumption .There was no gender difference for this interaction (P = 0.64 for heterogeneity). NEIL3, a gene belonging to [...]
  • NEIL3-dependent modulation of DNA methylation regulates cardiac fibroblast proliferation and thereby affects extracellular matrix modulation after myocardial infarction.
  • Data indicate that DNA glycosylases MYH, UNG2, MPG, NTH1, NEIL1, 2 and 3 on nascent DNA.
  • NEIL3 protects genome stability through targeted repair of oxidative damage in telomeres during S/G2 phase.
  • NEIL3 cleaves psoralen-induced DNA-DNA cross-links in three-stranded and four-stranded DNA substrates to generate unhooked DNA fragments containing either an abasic site or a psoralen-thymine monoadduct. Nei and NEIL1 also cleave a psoralen-induced f [...]
  • This study identifies the NEIL3 promoter possessing a G-rich element that can adopt a G4 fold, and when 8-oxo-7,8-dihydroguanine is incorporated, the sequence can lock into a more stable G4 fold via recruitment of the fifth track of Gs.
  • NEIL1 and NEIL3 may protect cells against cytotoxic and mutagenic effects of NM-Fapy-dG, but NEIL1 may have a unique role in initiation of base excision repair of AFB1-Fapy-dG
  • Results indicate that whilst specificity for 5-hydroxyuracil and thymine glycol was observed, NEIL3 preferentially excises oxidized bases from single stranded DNA and within open fork structures.
  • TRAIP is important for the recruitment of NEIL3 but not FANCD2, and knockdown of TRAIP promotes FA/BRCA pathway activation. Interestingly, TRAIP is non-epistatic with both NEIL3 and FA pathways in psoralen-ICL repair, suggesting that TRAIP may functi [...]
  • An autoinhibitory role for the GRF zinc finger domain of DNA glycosylase NEIL3.
  • DNA glycosylase Neil3 regulates vascular smooth muscle cell biology during atherosclerosis development.
  • Deficiency of NEIL3 Enhances the Chemotherapy Resistance of Prostate Cancer.
    •   MGD
  • homeostasis/metabolism phenotype
  • immune system phenotype
  • cellular phenotype
  • nervous system phenotype
  • hematopoietic system phenotype
  • normal phenotype
    		•
      transcripts ENST00000264596: 2408 bases (protein_coding)
    ENST00000513321: 1528 bases (nonsense_mediated_decay)
      interactions (STRING)
    APEX1: (textmining 668)    BMP2K: (textmining 467)    CD97: (textmining 556)    DCLRE1C: (textmining 495)   
    ERCC5: (textmining 483)    GTF2H1: (textmining 657)    LIG3: (textmining 537)    NEIL1: (textmining 903)   
    NTHL1: (textmining 740)    NUDT1: (textmining 543)    OGG1: (textmining 736)    RPA2: (textmining 645)   
    TOP2A: (textmining 560)    TWSG1: (textmining 449)    XRCC1: (textmining 422)   
      GeneOntology
  • bubble DNA binding
  • damaged DNA binding
  • double-stranded DNA binding
  • single-stranded DNA binding
  • DNA-(apurinic or apyrimidinic site) lyase activity
  • nucleus
  • base-excision repair
  • nucleotide-excision repair
  • zinc ion binding
  • DNA N-glycosylase activity
    		•

    1 gene(s) (27.278 ms).

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    citing GeneDistiller

    If you feel that GeneDistiller has helped you in your research, please cite the following publication:

    Seelow D, Schwarz JM, Schuelke M.
    GeneDistiller--distilling candidate genes from linkage intervals.
    PLoS ONE. 2008;3(12):e3874. Epub 2008 Dec 5.

    entitylast update (YYYY-MM-DD)
    Disease Ontology2020-06-29
    Ensembl 84 (GRCh73)2016-06-14
    Ensembl:Entrez2021-10-28
    Entrez gene history2021-10-28
    Entrez gene positions2021-10-28
    Entrez gene RIFS2021-10-28
    Entrez genes2021-10-28
    Entrez gene synonyms2021-10-28
    HPO:Genes2015-12-22
    HPO:OMIM2015-12-22
    HPO:OrphaNet2015-12-22
    Human Phenotype Ontology2015-12-22
    OMIM2015-08-25