SMC6

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SMC6
Identifiers
Aliases SMC6, SMC-6, SMC6L1, hstructural maintenance of chromosomes 6
External IDs MGI: 1914491 HomoloGene: 41575 GeneCards: SMC6
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SMC6
Genomic location for SMC6
Band 2p24.2 Start 17,663,812 bp[1]
End 17,800,242 bp[1]
RNA expression pattern
PBB GE SMC6 218781 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142286
NM_024624

NM_025695
NM_001324476

RefSeq (protein)

NP_001135758
NP_078900

NP_001311405
NP_079971

Location (UCSC) Chr 2: 17.66 – 17.8 Mb Chr 2: 11.27 – 11.32 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Structural maintenance of chromosomes protein 6 is a protein that in humans is encoded by the SMC6 gene.[5][6]

It is involved in the Alternative lengthening of telomeres cancer mechanism.[7]

{{PBB_Summary | section_title = | summary_text =

Role in recombination and meiosis[edit]

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.[8] The SMC-5/6 complex in mouse oocytes is essential for the formation of segregation competent bivalents during meiosis.[9] In the yeast Saccharomyces cerevisiae, SMC6 is necessary for resistance to DNA damage as well as for damage-induced interchromosomal and sister chromatid recombination.[10] 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.[11] Patient’s cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous recombination.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163029 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020608 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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 311072Freely accessible. PMID 11230166. 
  6. ^ "Entrez Gene: SMC6 structural maintenance of chromosomes 6". 
  7. ^ 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. 
  8. ^ 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 4807058Freely accessible. PMID 27010650. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ 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 4966312Freely accessible. PMID 27427983. 

Further reading[edit]