NTHL1

NTHL1
식별자
에일리어스	NTHL1, NTH1, OCTS3, hNTH1, FAP3, n번째 유사 DNA 글리코실라아제1, n번째 유사 DNA 글리코실라아제1
외부 ID	OMIM: 602656MGI: 1313275 HomoloGene: 1897 GeneCards: NTHL1
유전자 위치(인간)
크르.	16번 염색체(인간)
끝.	2,047,866 bp
유전자 위치(마우스)
크르.	17번 염색체(쥐)
끝.	24,857,811 bp
RNA발현패턴
	상단 표시 위치:
	간우엽; ; 우측 자궁관; ; 창호; ; 핵액컴벤스; ; 미산핵; ; 오른쪽 폐; ; 브로드만 9구역; ; 경골 신경; ; 난모세포; ; 전전두피질;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	리아제 활성; GO:0001948 단백질 결합; 촉매 활성; 엔도핵산가수분해효소활성; 이중가닥DNA결합; 글리코실 결합에 작용하는 가수분해효소 활성; 가수분해효소활성; DNA결합; 철-아연 클러스터 결합; 금속 이온 결합; 4 철, 4 유황 클러스터 결합; DNAN글리코실라아제활성; DNA-(아푸린산 또는 아피리미딘산 부위)핵산가수분해효소활성; 산화푸린핵산염기병변DNAN-글리코실라아제활성; 산화피리미딘핵산염기병변DNAN-글리코실라아제활성; 클래스 I DNA(아푸린산 또는 아피리미딘산 부위) 엔도핵산가수분해효소 활성;
셀룰러 컴포넌트	핵소체; 핵; 미토콘드리아;
생물학적 과정	탈리미드화; DNA 손상 자극에 대한 세포 반응; 대사; 뉴클레오티드 절제 복구, DNA 절개, 5'-to 병변; DNA복구; 염기 절제 수리; 베이스 절제 복구, AP 사이트 형성;
	출처:아미고 / QuickGO
맞춤법
	4913
	18207
	ENSG000065057
	ENSMUSG000041429
	P78549
	O35980
	NM_002528; NM_001318193; NM_001318194
	NM_008743; NM_001357615
	NP_001305122; NP_001305123; NP_002519
	NP_032769; NP_001344544
	위키데이터
인간 보기/편집	마우스 표시/편집

엔도핵산가수분해효소III양단백질1은 NTHL1유전자에 ^[5]^[6]^[7]의해 인체 내에서 암호화되는 효소이다.

Li ^[8]등이 검토한 바와 같이 NTHL1은 관련 베타 제거 활성을 가진 2관능성 DNA 글리코실라아제이다.NTHL1은 일반적으로 염기 절제 복구를 통해 산화 피리미딘 병변을 제거하는 데 관여합니다.NTHL1은 염기 절제 수리의 첫 번째 단계를 촉매합니다.손상된 염기와 관련 당잔기 사이의 N-글리코실 결합을 분해한 후 포스포디에스테르 결합 3'을 AP 부위에 ^[9]분해하여 베타 제거 후 3'-불포화 알데히드 및 복구 간격 ^[8]말미에 5'-인산을 남긴다.

NTHL1의 저발현은 성상세포종의 ^[10]시작과 발달과 관련이 있다.NTHL1의 저발현도 여포성 갑상선 ^[11]종양에서 발견된다.

NTHL1의 생식선 호모 접합 돌연변이는 Lynch ^[12]^[13]증후군과 유사한 암 감수성 증후군을 일으킨다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000065057 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000041429 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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. Bibcode:1997PNAS...94..109A. doi:10.1073/pnas.94.1.109. PMC 19249. PMID 8990169.
^ "Entrez Gene: NTHL1 nth endonuclease III-like 1 (E. coli)".
^ ^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.
^ 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.
^ 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.
^ 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.
^ Kuiper RP, Hoogerbrugge N (2015). "NTHL1 defines novel cancer syndrome". Oncotarget. 6 (33): 34069–70. doi:10.18632/oncotarget.5864. PMC 4741436. PMID 26431160.
^ 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. S2CID 24075977.

추가 정보

Hilbert TP, Boorstein RJ, Kung HC, et al. (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". Biochemistry. 35 (8): 2505–11. doi:10.1021/bi952516e. PMID 8611553.
Ikeda S, Biswas T, Roy R, et al. (1998). "Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. Direct identification of Lys-212 as the active nucleophilic residue". J. Biol. Chem. 273 (34): 21585–93. doi:10.1074/jbc.273.34.21585. PMID 9705289.
Sarker AH, Ikeda S, Nakano H, et al. (1999). "Cloning and characterization of a mouse homologue (mNthl1) of Escherichia coli endonuclease III". J. Mol. Biol. 282 (4): 761–74. doi:10.1006/jmbi.1998.2042. PMID 9743625.
Imai K, Sarker AH, Akiyama K, et al. (1999). "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". Gene. 222 (2): 287–95. doi:10.1016/S0378-1119(98)00485-5. PMID 9831664.
Bessho T (1999). "Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase". Nucleic Acids Res. 27 (4): 979–83. doi:10.1093/nar/27.4.979. PMC 148276. PMID 9927729.
Luna L, Bjørås M, Hoff E, et al. (2000). "Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA". Mutat. Res. 460 (2): 95–104. doi:10.1016/s0921-8777(00)00015-x. PMID 10882850.
Matsumoto Y, Zhang QM, Takao M, et al. (2002). "Escherichia coli Nth and human hNTH1 DNA glycosylases are involved in removal of 8-oxoguanine from 8-oxoguanine/guanine mispairs in DNA". Nucleic Acids Res. 29 (9): 1975–81. doi:10.1093/nar/29.9.1975. PMC 37258. PMID 11328882.
Miyabe I, Zhang QM, Kino K, et al. (2002). "Identification of 5-formyluracil DNA glycosylase activity of human hNTH1 protein". Nucleic Acids Res. 30 (15): 3443–8. doi:10.1093/nar/gkf460. PMC 137084. PMID 12140329.
Liu X, Roy R (2002). "Truncation of amino-terminal tail stimulates activity of human endonuclease III (hNTH1)". J. Mol. Biol. 321 (2): 265–76. doi:10.1016/S0022-2836(02)00623-X. PMID 12144783.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Marenstein DR, Chan MK, Altamirano A, et al. (2003). "Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity". J. Biol. Chem. 278 (11): 9005–12. doi:10.1074/jbc.M212168200. PMID 12519758.
Ikeda S, Kohmoto T, Tabata R, Seki Y (2003). "Differential intracellular localization of the human and mouse endonuclease III homologs and analysis of the sorting signals". DNA Repair (Amst.). 1 (10): 847–54. doi:10.1016/S1568-7864(02)00145-3. PMID 12531031.
Liu X, Choudhury S, Roy R (2004). "In vitro and in vivo dimerization of human endonuclease III stimulates its activity". J. Biol. Chem. 278 (50): 50061–9. doi:10.1074/jbc.M309997200. PMID 14522981.
Katafuchi A, Nakano T, Masaoka A, et al. (2004). "Differential specificity of human and Escherichia coli endonuclease III and VIII homologues for oxidative base lesions". J. Biol. Chem. 279 (14): 14464–71. doi:10.1074/jbc.M400393200. PMID 14734554.
Wiederhold L, Leppard JB, Kedar P, et al. (2004). "AP endonuclease-independent DNA base excision repair in human cells". Mol. Cell. 15 (2): 209–20. doi:10.1016/j.molcel.2004.06.003. PMID 15260972.
Oyama M, Wakasugi M, Hama T, et al. (2004). "Human NTH1 physically interacts with p53 and proliferating cell nuclear antigen". Biochem. Biophys. Res. Commun. 321 (1): 183–91. doi:10.1016/j.bbrc.2004.06.136. PMID 15358233.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Zhang QM, Yonekura S, Takao M, et al. (2005). "DNA glycosylase activities for thymine residues oxidized in the methyl group are functions of the hNEIL1 and hNTH1 enzymes in human cells". DNA Repair (Amst.). 4 (1): 71–9. doi:10.1016/j.dnarep.2004.08.002. PMID 15533839.

인간 염색체 16번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000065057 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000041429 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9045706-5] 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.

[pmid8990169-6] 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. Bibcode:1997PNAS...94..109A. doi:10.1073/pnas.94.1.109. PMC 19249. PMID 8990169.

[entrez-7] "Entrez Gene: NTHL1 nth endonuclease III-like 1 (E. coli)".

[Li-8] 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.

[pmid21930793-9] 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.

[pmid17034947-10] 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.

[pmid22331172-11] 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.

[pmid26431160-12] Kuiper RP, Hoogerbrugge N (2015). "NTHL1 defines novel cancer syndrome". Oncotarget. 6 (33): 34069–70. doi:10.18632/oncotarget.5864. PMC 4741436. PMID 26431160.

[pmid25938944-13] 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. S2CID 24075977.

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NTHL1

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