NTHL1

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NTHL1
Identifiers
AliasesNTHL1, NTH1, OCTS3, hNTH1, FAP3, nth-like DNA glycosylase 1, nth like DNA glycosylase 1
External IDsMGI: 1313275 HomoloGene: 1897 GeneCards: NTHL1
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for NTHL1
Genomic location for NTHL1
Band16p13.3Start2,039,815 bp[1]
End2,047,866 bp[1]
RNA expression pattern
PBB GE NTHL1 209731 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002528
NM_001318193
NM_001318194

NM_008743
NM_001357615

RefSeq (protein)

NP_001305122
NP_001305123
NP_002519

NP_032769
NP_001344544

Location (UCSC)Chr 16: 2.04 – 2.05 MbChr 17: 24.63 – 24.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Endonuclease III-like protein 1 is an enzyme that in humans is encoded by the NTHL1 gene.[5][6][7]

As reviewed by Li et al.,[8] NTHL1 is a bifunctional DNA glycosylase that has an associated beta-elimination activity. NTHL1 is usually involved in removing oxidative pyrimidine lesions through base excision repair. NTHL1 catalyses the first step in base excision repair. It cleaves the N-glycosylic bond between the damaged base and its associated sugar residue and then cleaves the phosphodiester bond 3' to the AP site,[9] leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.[8]

Low expression of NTHL1 is associated with initiation and development of astrocytoma.[10] Low expression of NTHL1 is also found in follicular thyroid tumors.[11]

A germ line homozygous mutation in NTHL1 causes a cancer susceptibility syndrome similar to Lynch syndrome.[12][13]


References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000065057 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041429 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Hilbert TP, Chaung W, Boorstein RJ, Cunningham RP, Teebor GW (Apr 1997). "Cloning and expression of the cDNA encoding the human homologue of the DNA repair enzyme, Escherichia coli endonuclease III". J Biol Chem. 272 (10): 6733–40. doi:10.1074/jbc.272.10.6733. PMID 9045706.
  6. ^ Aspinwall R, Rothwell DG, Roldan-Arjona T, Anselmino C, Ward CJ, Cheadle JP, Sampson JR, Lindahl T, Harris PC, Hickson ID (Feb 1997). "Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III". Proc Natl Acad Sci U S A. 94 (1): 109–14. doi:10.1073/pnas.94.1.109. PMC 19249. PMID 8990169.
  7. ^ "Entrez Gene: NTHL1 nth endonuclease III-like 1 (E. coli)".
  8. ^ a b Li J, Braganza A, Sobol RW (2013). "Base excision repair facilitates a functional relationship between Guanine oxidation and histone demethylation". Antioxid. Redox Signal. 18 (18): 2429–43. doi:10.1089/ars.2012.5107. PMC 3671628. PMID 23311711.
  9. ^ Odell ID, Barbour JE, Murphy DL, Della-Maria JA, Sweasy JB, Tomkinson AE, Wallace SS, Pederson DS (2011). "Nucleosome disruption by DNA ligase III-XRCC1 promotes efficient base excision repair". Mol. Cell. Biol. 31 (22): 4623–32. doi:10.1128/MCB.05715-11. PMC 3209256. PMID 21930793.
  10. ^ Jiang Z, Hu J, Li X, Jiang Y, Zhou W, Lu D (2006). "Expression analyses of 27 DNA repair genes in astrocytoma by TaqMan low-density array". Neurosci. Lett. 409 (2): 112–7. doi:10.1016/j.neulet.2006.09.038. PMID 17034947.
  11. ^ Karger S, Krause K, Engelhardt C, Weidinger C, Gimm O, Dralle H, Sheu-Grabellus SY, Schmid KW, Fuhrer D (2012). "Distinct pattern of oxidative DNA damage and DNA repair in follicular thyroid tumours". J. Mol. Endocrinol. 48 (3): 193–202. doi:10.1530/JME-11-0119. PMID 22331172.
  12. ^ Kuiper RP, Hoogerbrugge N (2015). "NTHL1 defines novel cancer syndrome". Oncotarget. 6 (33): 34069–70. doi:10.18632/oncotarget.5864. PMC 4741436. PMID 26431160.
  13. ^ Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N (2015). "A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer". Nat. Genet. 47 (6): 668–71. doi:10.1038/ng.3287. PMID 25938944.

Further reading[edit]