SMC6

SMC6
식별자
별칭	SMC6, SMC-6, SMC6L1, 염색체 구조 유지 6
외부 ID	OMIM: 609387 MGI: 1914491 호몰로진: 41575 GeneCard: SMC6
유전자 위치(인간)
쳇.	염색체 2 (인간)
끝	17,800,242 bp
유전자 위치(마우스)
쳇.	12번 염색체(쥐)
끝	11,369,786 bp
RNA 표현 패턴
	표현된 상단
	망막색소 상피; ; 고환; ; 아킬레스건; ; 폐를 끼치다; ; 카푸트 전염병; ; 하트; ; 말뭉치 담낭; ; 콩팥을;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	뉴클레오티드 결합; GO:0001948 단백질 결합; ATP 바인딩; 유비퀴틴 단백질 리가제 결합;
셀룰러 컴포넌트	복층파쇄장; PML 본체; 성염색체; 핵 반점; smc5-Smc6 복합체; 세포내 해부학적 구조; 핵종의; 염색체; 염색체, 말단부; 색간 그라놀레; 핵의;
생물학적 과정	DNA 재조합; DNA 손상 자극에 대한 세포 반응; 재조합을 통한 말단 정비; 세포 노쇠; 염색체 분리의 긍정적인 조절; 균질 재조합을 통한 이중 패시브 브레이크 수리; DNA 수리;
	출처:아미고 / 퀵고
직교체
	79677
	67241
	ENSG00000163029
	ENSMUSG00000020608
	Q96SB8
	Q924W5
	NM_001142286; NM_024624
	NM_025695; NM_001324476; NM_001361252
	NP_001135758; NP_078900
	NP_001311405; NP_079971; NP_001348181
	위키다타
인간 보기/편집	마우스 보기/편집

SMC6
식별자
별칭	SMC6, SMC-6, SMC6L1, 염색체 구조 유지 6
외부 ID	OMIM: 609387 MGI: 1914491 호몰로진: 41575 GeneCard: SMC6
유전자 위치(인간)
쳇.	염색체 2 (인간)
끝	17,800,242 bp
유전자 위치(마우스)
쳇.	12번 염색체(쥐)
끝	11,369,786 bp
RNA 표현 패턴
	표현된 상단
	망막색소 상피; ; 고환; ; 아킬레스건; ; 폐를 끼치다; ; 카푸트 전염병; ; 하트; ; 말뭉치 담낭; ; 콩팥을;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	뉴클레오티드 결합; GO:0001948 단백질 결합; ATP 바인딩; 유비퀴틴 단백질 리가제 결합;
셀룰러 컴포넌트	복층파쇄장; PML 본체; 성염색체; 핵 반점; smc5-Smc6 복합체; 세포내 해부학적 구조; 핵종의; 염색체; 염색체, 말단부; 색간 그라놀레; 핵의;
생물학적 과정	DNA 재조합; DNA 손상 자극에 대한 세포 반응; 재조합을 통한 말단 정비; 세포 노쇠; 염색체 분리의 긍정적인 조절; 균질 재조합을 통한 이중 패시브 브레이크 수리; DNA 수리;
	출처:아미고 / 퀵고
직교체
	79677
	67241
	ENSG00000163029
	ENSMUSG00000020608
	Q96SB8
	Q924W5
	NM_001142286; NM_024624
	NM_025695; NM_001324476; NM_001361252
	NP_001135758; NP_078900
	NP_001311405; NP_079971; NP_001348181
	위키다타
인간 보기/편집	마우스 보기/편집

염색체 단백질 6의 구조적 유지보수는 인간에게 SMC6 유전자에 의해 암호화된 단백질이다.^[5]^[6]

구조

SMC6는 RAD18 (SMC6)로서 핵분열 효모에서 처음 발견되었다.Spr18(SMC5) 단백질로 이질 복합체를 형성한다.^[7]^[8]효모에서 SMC5/6 복합체에는 SMC5, SMC6 및 염색체(NSE) 단백질의 비구조적 유지 6개로 구성된 하위 유니트가 있다.Nse1-Nse3-Nse4 서브유닛은 smc5 헤드 Smc6를 연결하고 DNA를 결합할 수 있다.

그것은 말단소립자 암 메커니즘의 대안적 연장에 관여한다.^[14]

재조합과 감수분열에서의 역할

smc6 및 smc5 단백질은 이질 링과 같은 구조를 형성하며 SMC 이외의 다른 요소와 함께 SMC-5/6 복합체를 형성한다.선충벌레에서 이 복합체는 감수재조합 중간처리 및 염색체 성숙을 촉진하기 위해 HIM-6(BLM) 헬리코아제와 상호작용한다.^[15]생쥐 난모세포의 SMC-5/6 복합체는 감수분열 중 분리가 가능한 이분체를 형성하는 데 필수적이다.^[16]효모 사카로마이오스 세레비시아에 있어서, SMC6는 DNA 손상에 대한 저항성뿐만 아니라 손상에 의한 색소간 및 자매 크로마티드 재조합에 필요하다.^[17]인간에게 있어서, 유아기에 심각한 폐질환으로 특징지어지는 염색체 파괴 증후군은 SMC-5/6 복합체 구성 요소의 돌연변이와 관련이 있다.^[18]환자의 세포는 염색체 재배열, 미세핵, DNA 손상에 대한 민감성, 결함이 있는 동질 재조합을 나타낸다.

참조

^ ^a ^b ^c ^d ^e ^f GRCh38: 앙상블 릴리스 89: ENSG00000163029 - 앙상블, 2017년 5월
^ ^a ^b ^c ^d ^e ^f GRCm38: 앙상블 릴리스 89: ENSMUSG000020608 - 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.
^ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
^ "Entrez Gene: SMC6 structural maintenance of chromosomes 6".
^ Fousteri MI, Lehmann AR (April 2000). "A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein". The EMBO Journal. 19 (7): 1691–702. doi:10.1093/emboj/19.7.1691. PMC 310237. PMID 10747036.
^ Lehmann AR, Walicka M, Griffiths DJ, Murray JM, Watts FZ, McCready S, Carr AM (December 1995). "The rad18 gene of Schizosaccharomyces pombe defines a new subgroup of the SMC superfamily involved in DNA repair". Molecular and Cellular Biology. 15 (12): 7067–80. doi:10.1128/mcb.15.12.7067. PMC 230962. PMID 8524274.
^ Palecek J, Vidot S, Feng M, Doherty AJ, Lehmann AR (December 2006). "The Smc5-Smc6 DNA repair complex: bridging of the Smc5-Smc6 heads by the KLEISIN, Nse4, and non-Kleisin subunits". The Journal of Biological Chemistry. 281 (48): 36952–36959. doi:10.1074/jbc.M608004200. PMID 17005570.
^ Zabrady K, Adamus M, Vondrova L, Liao C, Skoupilova H, Novakova M, Jurcisinova L, Alt A, Oliver AW, Lehmann AR, Palecek JJ (February 2016). "Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA". Nucleic Acids Research. 44 (3): 1064–1079. doi:10.1093/nar/gkv1021. PMC 4756808. PMID 26446992.
^ Vondrova L, Kolesar P, Adamus M, Nociar M, Oliver AW, Palecek JJ (June 2020). "A role of the Nse4 kleisin and Nse1/Nse3 KITE subunits in the ATPase cycle of SMC5/6". Scientific Reports. 10 (1): 9694. Bibcode:2020NatSR..10.9694V. doi:10.1038/s41598-020-66647-w. PMC 7297730. PMID 32546830.
^ "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.
^ Potts PR, Yu H (2007). "The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins". Nat. Struct. Mol. Biol. 14 (7): 581–90. doi:10.1038/nsmb1259. PMID 17589526. S2CID 7915836.
^ Hong Y, Sonneville R, Agostinho A, Meier B, Wang B, Blow JJ, Gartner A (2016). "The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis". PLOS Genet. 12 (3): e1005872. doi:10.1371/journal.pgen.1005872. PMC 4807058. PMID 27010650.
^ Hwang G, Sun F, O'Brien M, Eppig JJ, Handel MA, Jordan PW (2017). "SMC5/6 is required for the formation of segregation-competent bivalent chromosomes during meiosis I in mouse oocytes". Development. 144 (9): 1648–1660. doi:10.1242/dev.145607. PMC 5450844. PMID 28302748.
^ Onoda F, Takeda M, Seki M, Maeda D, Tajima J, Ui A, Yagi H, Enomoto T (2004). "SMC6 is required for MMS-induced interchromosomal and sister chromatid recombinations in Saccharomyces cerevisiae". DNA Repair (Amst.). 3 (4): 429–39. doi:10.1016/j.dnarep.2003.12.007. PMID 15010319.
^ van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G (2016). "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". J. Clin. Invest. 126 (8): 2881–92. doi:10.1172/JCI82890. PMC 4966312. PMID 27427983.

추가 읽기

Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Taylor EM, Moghraby JS, Lees JH, et al. (2001). "Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex". Mol. Biol. Cell. 12 (6): 1583–94. doi:10.1091/mbc.12.6.1583. PMC 37326. PMID 11408570.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
Potts PR, Yu H (2005). "Human MMS21/NSE2 is a SUMO ligase required for DNA repair". Mol. Cell. Biol. 25 (16): 7021–32. doi:10.1128/MCB.25.16.7021-7032.2005. PMC 1190242. PMID 16055714.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Potts PR, Porteus MH, Yu H (2006). "Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks". EMBO J. 25 (14): 3377–88. doi:10.1038/sj.emboj.7601218. PMC 1523187. PMID 16810316.

인간 염색체 2의 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] ^ ^a ^b ^c ^d ^e ^f GRCh38: 앙상블 릴리스 89: ENSG00000163029 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] ^ ^a ^b ^c ^d ^e ^f GRCm38: 앙상블 릴리스 89: ENSMUSG000020608 - 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.

[pmid11230166-5] Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.

[entrez-6] "Entrez Gene: SMC6 structural maintenance of chromosomes 6".

[7] Fousteri MI, Lehmann AR (April 2000). "A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein". The EMBO Journal. 19 (7): 1691–702. doi:10.1093/emboj/19.7.1691. PMC 310237. PMID 10747036.

[8] Lehmann AR, Walicka M, Griffiths DJ, Murray JM, Watts FZ, McCready S, Carr AM (December 1995). "The rad18 gene of Schizosaccharomyces pombe defines a new subgroup of the SMC superfamily involved in DNA repair". Molecular and Cellular Biology. 15 (12): 7067–80. doi:10.1128/mcb.15.12.7067. PMC 230962. PMID 8524274.

[9] Palecek J, Vidot S, Feng M, Doherty AJ, Lehmann AR (December 2006). "The Smc5-Smc6 DNA repair complex: bridging of the Smc5-Smc6 heads by the KLEISIN, Nse4, and non-Kleisin subunits". The Journal of Biological Chemistry. 281 (48): 36952–36959. doi:10.1074/jbc.M608004200. PMID 17005570.

[10] Zabrady K, Adamus M, Vondrova L, Liao C, Skoupilova H, Novakova M, Jurcisinova L, Alt A, Oliver AW, Lehmann AR, Palecek JJ (February 2016). "Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA". Nucleic Acids Research. 44 (3): 1064–1079. doi:10.1093/nar/gkv1021. PMC 4756808. PMID 26446992.

[11] Vondrova L, Kolesar P, Adamus M, Nociar M, Oliver AW, Palecek JJ (June 2020). "A role of the Nse4 kleisin and Nse1/Nse3 KITE subunits in the ATPase cycle of SMC5/6". Scientific Reports. 10 (1): 9694. Bibcode:2020NatSR..10.9694V. doi:10.1038/s41598-020-66647-w. PMC 7297730. PMID 32546830.

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

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

[Potts2007-14] Potts PR, Yu H (2007). "The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins". Nat. Struct. Mol. Biol. 14 (7): 581–90. doi:10.1038/nsmb1259. PMID 17589526. S2CID 7915836.

[pmid27010650-15] Hong Y, Sonneville R, Agostinho A, Meier B, Wang B, Blow JJ, Gartner A (2016). "The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis". PLOS Genet. 12 (3): e1005872. doi:10.1371/journal.pgen.1005872. PMC 4807058. PMID 27010650.

[pmid28302748-16] Hwang G, Sun F, O'Brien M, Eppig JJ, Handel MA, Jordan PW (2017). "SMC5/6 is required for the formation of segregation-competent bivalent chromosomes during meiosis I in mouse oocytes". Development. 144 (9): 1648–1660. doi:10.1242/dev.145607. PMC 5450844. PMID 28302748.

[pmid15010319-17] Onoda F, Takeda M, Seki M, Maeda D, Tajima J, Ui A, Yagi H, Enomoto T (2004). "SMC6 is required for MMS-induced interchromosomal and sister chromatid recombinations in Saccharomyces cerevisiae". DNA Repair (Amst.). 3 (4): 429–39. doi:10.1016/j.dnarep.2003.12.007. PMID 15010319.

[pmid27427983-18] van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G (2016). "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". J. Clin. Invest. 126 (8): 2881–92. doi:10.1172/JCI82890. PMC 4966312. PMID 27427983.

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SMC6

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재조합과 감수분열에서의 역할

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