SMC6: Difference between revisions

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Added a section on the role of SMC6 in recombination and meiosis.
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{{Infobox_gene}}
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'''Structural maintenance of chromosomes protein 6''' is a [[protein]] that in humans is encoded by the ''SMC6'' [[gene]].<ref name="pmid11230166">{{cite journal | vauthors = 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 | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Res | volume = 11 | issue = 3 | pages = 422–35 |date=Mar 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMC6 structural maintenance of chromosomes 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79677| accessdate = }}</ref>
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It is involved in the [[Alternative lengthening of telomeres]] cancer mechanism.<ref name=Potts2007>{{cite journal | vauthors=Potts PR, Yu H |title=The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins. |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 7 |pages= 581–90 |year= 2007 |pmid= 17589526 |doi= 10.1038/nsmb1259 }}</ref>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Structural maintenance of chromosomes 6
| HGNCid = 20466
| Symbol = SMC6
| AltSymbols =; FLJ22116; FLJ35534; SMC6L1
| OMIM = 609387
| ECnumber = 
| Homologene = 41575
| MGIid = 1914491
| GeneAtlas_image1 = PBB_GE_SMC6_218781_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005694 |text = chromosome}}
| Process = {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006310 |text = DNA recombination}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 79677
    | Hs_Ensembl = ENSG00000163029
    | Hs_RefseqProtein = NP_078900
    | Hs_RefseqmRNA = NM_024624
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 17708560
    | Hs_GenLoc_end = 17798578
    | Hs_Uniprot = Q96SB8
    | Mm_EntrezGene = 67241
    | Mm_Ensembl = ENSMUSG00000020608
    | Mm_RefseqmRNA = NM_025695
    | Mm_RefseqProtein = NP_079971
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 11292229
    | Mm_GenLoc_end = 11346132
    | Mm_Uniprot = Q924W5
  }}
}}
'''Structural maintenance of chromosomes 6''', also known as '''SMC6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SMC6 structural maintenance of chromosomes 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79677| accessdate = }}</ref>


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==Role in recombination and meiosis==
Smc6 and [[SMC5|Smc5]] proteins form a heterodimeric ring-like structure and together with other non-SMC elements form the SMC-5/6 complex.  In the worm ''[[Caenorhabditis elegans]]'' this complex interacts with the [[Bloom syndrome protein|HIM-6(BLM) helicase]] to promote [[Genetic recombination|meiotic recombination]] intermediate processing and [[chromosome]] maturation.<ref name="pmid27010650">{{cite journal |vauthors=Hong Y, Sonneville R, Agostinho A, Meier B, Wang B, Blow JJ, Gartner A |title=The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis |journal=PLoS Genet. |volume=12 |issue=3 |pages=e1005872 |year=2016 |pmid=27010650 |pmc=4807058 |doi=10.1371/journal.pgen.1005872 |url=}}</ref>  The SMC-5/6 complex in mouse [[oocyte]]s is essential for the formation of segregation competent bivalents during [[meiosis]].<ref name="pmid28302748">{{cite journal |vauthors=Hwang G, Sun F, O'Brien M, Eppig JJ, Handel MA, Jordan PW |title=SMC5/6 is required for the formation of segregation-competent bivalent chromosomes during meiosis I in mouse oocytes |journal=Development |volume=144 |issue=9 |pages=1648–1660 |year=2017 |pmid=28302748 |doi=10.1242/dev.145607 |url=}}</ref>  In the yeast ''[[Saccharomyces cerevisiae]]'', SMC6 is necessary for resistance to DNA damage as well as for damage-induced interchromosomal and sister [[chromatid]] recombination.<ref name="pmid15010319">{{cite journal |vauthors=Onoda F, Takeda M, Seki M, Maeda D, Tajima J, Ui A, Yagi H, Enomoto T |title=SMC6 is required for MMS-induced interchromosomal and sister chromatid recombinations in Saccharomyces cerevisiae |journal=DNA Repair (Amst.) |volume=3 |issue=4 |pages=429–39 |year=2004 |pmid=15010319 |doi=10.1016/j.dnarep.2003.12.007 |url=}}</ref>  In humans, a [[Chromosome instability syndrome|chromosome breakage syndrome]] characterized by severe lung disease in early childhood is associated with a [[mutation]] in a component of the SMC-5/6 complex.<ref name="pmid27427983">{{cite journal |vauthors=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 |title=Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease |journal=J. Clin. Invest. |volume=126 |issue=8 |pages=2881–92 |year=2016 |pmid=27427983 |pmc=4966312 |doi=10.1172/JCI82890 |url=}}</ref>  Patient’s cells display [[chromosome rearrangement]]s, [[micronucleus|micronuclei]], sensitivity to [[DNA damage (naturally occurring)|DNA damage]] and defective [[homologous recombination]].


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948  }}
*{{cite journal  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal   |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 }}
*{{cite journal | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal   |vauthors=Taylor EM, Moghraby JS, Lees JH, etal |title=Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. |journal=Mol. Biol. Cell |volume=12 |issue= 6 |pages= 1583–94 |year= 2001 |pmid= 11408570 |doi= 10.1091/mbc.12.6.1583| pmc=37326 }}
*{{cite journal | author=Taylor EM, Moghraby JS, Lees JH, ''et al.'' |title=Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. |journal=Mol. Biol. Cell |volume=12 |issue= 6 |pages= 1583-94 |year= 2001 |pmid= 11408570 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
*{{cite journal | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal   |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724-31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal  | vauthors=Potts PR, Yu H |title=Human MMS21/NSE2 is a SUMO ligase required for DNA repair. |journal=Mol. Cell. Biol. |volume=25 |issue= 16 |pages= 7021–32 |year= 2005 |pmid= 16055714 |doi= 10.1128/MCB.25.16.7021-7032.2005 | pmc=1190242 }}
*{{cite journal  | author=Potts PR, Yu H |title=Human MMS21/NSE2 is a SUMO ligase required for DNA repair. |journal=Mol. Cell. Biol. |volume=25 |issue= 16 |pages= 7021-32 |year= 2005 |pmid= 16055714 |doi= 10.1128/MCB.25.16.7021-7032.2005 }}
*{{cite journal   |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
*{{cite journal | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
*{{cite journal  | vauthors=Potts PR, Porteus MH, Yu H |title=Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks. |journal=EMBO J. |volume=25 |issue= 14 |pages= 3377–88 |year= 2006 |pmid= 16810316 |doi= 10.1038/sj.emboj.7601218  | pmc=1523187 }}
*{{cite journal  | author=Potts PR, Porteus MH, Yu H |title=Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks. |journal=EMBO J. |volume=25 |issue= 14 |pages= 3377-88 |year= 2006 |pmid= 16810316 |doi= 10.1038/sj.emboj.7601218 }}
 
*{{cite journal | author=Potts PR, Yu H |title=The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins. |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 7 |pages= 581-90 |year= 2007 |pmid= 17589526 |doi= 10.1038/nsmb1259 }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 20:48, 6 December 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Structural maintenance of chromosomes protein 6 is a protein that in humans is encoded by the SMC6 gene.[1][2]

It is involved in the Alternative lengthening of telomeres cancer mechanism.[3]

{{PBB_Summary | section_title = | summary_text =

Role in recombination and meiosis

Smc6 and Smc5 proteins form a heterodimeric ring-like structure and together with other non-SMC elements form the SMC-5/6 complex. In the worm Caenorhabditis elegans this complex interacts with the HIM-6(BLM) helicase to promote meiotic recombination intermediate processing and chromosome maturation.[4] The SMC-5/6 complex in mouse oocytes is essential for the formation of segregation competent bivalents during meiosis.[5] In the yeast Saccharomyces cerevisiae, SMC6 is necessary for resistance to DNA damage as well as for damage-induced interchromosomal and sister chromatid recombination.[6] In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation in a component of the SMC-5/6 complex.[7] Patient’s cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous recombination.

References

  1. 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.
  2. "Entrez Gene: SMC6 structural maintenance of chromosomes 6".
  3. 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.
  4. 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.
  5. 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. PMID 28302748.
  6. 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.
  7. 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.

Further reading