SMC5

SMC5
Identifiers
AliasesSMC5, SMC5L1, structural maintenance of chromosomes 5
External IDsMGI: 2385088 HomoloGene: 41009 GeneCards: SMC5
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q21.12Start70,258,962 bp[1]
End70,354,888 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

23137

226026

Ensembl

ENSG00000198887

ENSMUSG00000024943

UniProt

Q8IY18

Q8CG46

RefSeq (mRNA)

NM_015110

NM_001252684
NM_001252685
NM_153808

RefSeq (protein)

NP_055925

NP_001239613
NP_001239614
NP_722503

Location (UCSC)Chr 9: 70.26 – 70.35 MbChr 19: 23.21 – 23.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structural maintenance of chromosomes protein 5 is a protein encoded by the SMC5 gene in human.[5][6]

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

Role in recombination and meiosis

Smc5 and Smc6 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 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.[10] Patient’s cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous recombination.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198887 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024943 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
  6. ↑ "Entrez Gene: SMC5 structural maintenance of chromosomes 5".
  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 4807058. 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. PMC 5450844. PMID 28302748.
  10. ↑ 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

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • 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.
  • Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
  • 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.
  • 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.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • 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.


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