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Gene Review

SMC1A  -  structural maintenance of chromosomes 1A

Homo sapiens

Synonyms: CDLS2, DXS423E, KIAA0178, SB1.8, SMC protein 1A, ...
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Disease relevance of SMC1A


High impact information on SMC1A

  • To explore the functional importance of SMC1 phosphorylation, murine cells were generated, in which the two damage-induced phosphorylation sites in SMC1 are mutated [6].
  • Using mass spectrometry, we established that ATM phosphorylates S957 and S966 of SMC1 in vivo [7].
  • Structural maintenance of chromosomes (SMC) proteins (SMC1, SMC3) are evolutionarily conserved chromosomal proteins that are components of the cohesin complex, necessary for sister chromatid cohesion [7].
  • Phosphorylation of S957 and/or S966 of SMC1 is required for activation of the S-phase checkpoint in response to IR [7].
  • Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks [8].

Biological context of SMC1A


Anatomical context of SMC1A


Other interactions of SMC1A


Analytical, diagnostic and therapeutic context of SMC1A


  1. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Musio, A., Selicorni, A., Focarelli, M.L., Gervasini, C., Milani, D., Russo, S., Vezzoni, P., Larizza, L. Nat. Genet. (2006) [Pubmed]
  2. The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. Rocques, P.J., Clark, J., Ball, S., Crew, J., Gill, S., Christodoulou, Z., Borts, R.H., Louis, E.J., Davies, K.E., Cooper, C.S. Hum. Mol. Genet. (1995) [Pubmed]
  3. Rad50 depletion impacts upon ATR-dependent DNA damage responses. Zhong, H., Bryson, A., Eckersdorff, M., Ferguson, D.O. Hum. Mol. Genet. (2005) [Pubmed]
  4. The ATM-dependent DNA damage signaling pathway. Kitagawa, R., Kastan, M.B. Cold Spring Harb. Symp. Quant. Biol. (2005) [Pubmed]
  5. Suppression of human prostate cancer cell growth by alpha1-adrenoceptor antagonists doxazosin and terazosin via induction of apoptosis. Kyprianou, N., Benning, C.M. Cancer Res. (2000) [Pubmed]
  6. Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. Kitagawa, R., Bakkenist, C.J., McKinnon, P.J., Kastan, M.B. Genes Dev. (2004) [Pubmed]
  7. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Yazdi, P.T., Wang, Y., Zhao, S., Patel, N., Lee, E.Y., Qin, J. Genes Dev. (2002) [Pubmed]
  8. Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks. Potts, P.R., Porteus, M.H., Yu, H. EMBO J. (2006) [Pubmed]
  9. Localization of human SMC1 protein at kinetochores. Gregson, H.C., Van Hooser, A.A., Ball, A.R., Brinkley, B.R., Yokomori, K. Chromosome Res. (2002) [Pubmed]
  10. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. Schmiesing, J.A., Ball, A.R., Gregson, H.C., Alderton, J.M., Zhou, S., Yokomori, K. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. Khanna, H., Hurd, T.W., Lillo, C., Shu, X., Parapuram, S.K., He, S., Akimoto, M., Wright, A.F., Margolis, B., Williams, D.S., Swaroop, A. J. Biol. Chem. (2005) [Pubmed]
  12. SMC1 involvement in fragile site expression. Musio, A., Montagna, C., Mariani, T., Tilenni, M., Focarelli, M.L., Brait, L., Indino, E., Benedetti, P.A., Chessa, L., Albertini, A., Ried, T., Vezzoni, P. Hum. Mol. Genet. (2005) [Pubmed]
  13. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Brown, C.J., Miller, A.P., Carrel, L., Rupert, J.L., Davies, K.E., Willard, H.F. Hum. Mol. Genet. (1995) [Pubmed]
  14. The role of micromere signaling in Notch activation and mesoderm specification during sea urchin embryogenesis. Sweet, H.C., Hodor, P.G., Ettensohn, C.A. Development (1999) [Pubmed]
  15. Smc5/6 is required for repair at collapsed replication forks. Ampatzidou, E., Irmisch, A., O'connell, M.J., Murray, J.M. Mol. Cell. Biol. (2006) [Pubmed]
  16. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Schoumans, J., Wincent, J., Barbaro, M., Djureinovic, T., Maguire, P., Forsberg, L., Staaf, J., Thuresson, A.C., Borg, A., Nordgren, A., Malm, G., Anderlid, B.M. Eur. J. Hum. Genet. (2007) [Pubmed]
  17. A potential role for human cohesin in mitotic spindle aster assembly. Gregson, H.C., Schmiesing, J.A., Kim, J.S., Kobayashi, T., Zhou, S., Yokomori, K. J. Biol. Chem. (2001) [Pubmed]
  18. Direct interaction between cohesin complex and DNA replication machinery. Ryu, M.J., Kim, B.J., Lee, J.W., Lee, M.W., Choi, H.K., Kim, S.T. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  19. Cohesin protein SMC1 represses the nuclear receptor CAR-mediated synergistic activation of a human P450 gene by xenobiotics. Inoue, K., Borchers, C.H., Negishi, M. Biochem. J. (2006) [Pubmed]
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