Gene Symbol: Smc1
Description: structural maintenance of chromosomes 1A
Alias: CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB, structural maintenance of chromosomes protein 1A, SMC protein 1A, SMC-1-alpha, SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, segregation of mitotic chromosomes 1
Species: human
Products:     Smc1

Top Publications

  1. Kueng S, Hegemann B, Peters B, Lipp J, Schleiffer A, Mechtler K, et al. Wapl controls the dynamic association of cohesin with chromatin. Cell. 2006;127:955-67 pubmed
    ..Wapl depletion also increases the residence time of cohesin on chromatin in interphase. Our data indicate that Wapl is required to unlock cohesin from a particular state in which it is stably bound to chromatin. ..
  2. Revenkova E, Eijpe M, Heyting C, Gross B, Jessberger R. Novel meiosis-specific isoform of mammalian SMC1. Mol Cell Biol. 2001;21:6984-98 pubmed
    ..for a unique, basic, DNA binding C-terminal motif-is highly homologous to SMC1 (which may now be called SMC1alpha) and is not present in the yeast genome...
  3. Stewart G, Wang B, Bignell C, Taylor A, Elledge S. MDC1 is a mediator of the mammalian DNA damage checkpoint. Nature. 2003;421:961-6 pubmed
    ..These results highlight a crucial role for MDC1 in mediating transduction of the DNA damage signal. ..
  4. Sumara I, Vorlaufer E, Gieffers C, Peters B, Peters J. Characterization of vertebrate cohesin complexes and their regulation in prophase. J Cell Biol. 2000;151:749-62 pubmed
    ..Both complexes contain SMC1, SMC3, SCC1, and either one of the yeast Scc3p orthologs SA1 and SA2...
  5. Wong R, Blobel G. Cohesin subunit SMC1 associates with mitotic microtubules at the spindle pole. Proc Natl Acad Sci U S A. 2008;105:15441-5 pubmed publisher
    ..We report that the cohesin subunit structural maintenance of chromosomes subunit 1 (SMC1) is recruited to microtubule-bound RNA export factor 1 (Rae1) at the mitotic spindle pole...
  6. Lee J, Iwai T, Yokota T, Yamashita M. Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis. J Cell Sci. 2003;116:2781-90 pubmed publisher
    ..transition by multisubunit protein complexes called cohesin, which include at least four proteins, SMC1alpha, SMC3, Rad21 and either SA1 or SA2, in mammalian somatic cells...
  7. Schmiesing J, Ball A, Gregson H, Alderton J, Zhou S, Yokomori K. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. Proc Natl Acad Sci U S A. 1998;95:12906-11 pubmed
    ..cell, the human chromosome-associated protein (hCAP)-C and hCAP-E protein complex (hCAP-C/hCAP-E), and the human SMC1 (hSMC1) and hSMC3 protein complex (hSMC1/hSMC3)...
  8. Losada A, Yokochi T, Kobayashi R, Hirano T. Identification and characterization of SA/Scc3p subunits in the Xenopus and human cohesin complexes. J Cell Biol. 2000;150:405-16 pubmed
    ..These results shed light on the mechanism by which sister chromatid cohesion is partially dissolved in early mitosis, far before the onset of anaphase, in vertebrate cells. ..
  9. Revenkova E, Focarelli M, Susani L, Paulis M, Bassi M, Mannini L, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009;18:418-27 pubmed publisher
    ..We propose that SMC1A and SMC3 CdLS mutations affect the dynamic association between SMC proteins and DNA, providing new clues to the underlying molecular cause of CdLS. ..

More Information


  1. Gandhi R, Gillespie P, Hirano T. Human Wapl is a cohesin-binding protein that promotes sister-chromatid resolution in mitotic prophase. Curr Biol. 2006;16:2406-17 pubmed
    ..Wapl is a new regulator of sister chromatid resolution and promotes release of cohesin from chromosomes by directly interacting with its regulatory subunits. ..
  2. Deardorff M, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80:485-94 pubmed
  3. Musio A, Selicorni A, Focarelli M, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. 2006;38:528-30 pubmed
    ..We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three ..
  4. Barber T, McManus K, Yuen K, Reis M, Parmigiani G, Shen D, et al. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci U S A. 2008;105:3443-8 pubmed publisher
    ..These results suggest that defective sister chromatid cohesion as a result of somatic mutations may represent a major cause of chromosome instability in human cancers. ..
  5. Yazdi P, Wang Y, Zhao S, Patel N, Lee E, Qin J. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Genes Dev. 2002;16:571-82 pubmed
    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...
  6. Prieto I, Suja J, Pezzi N, Kremer L, Martinez A C, Rufas J, et al. Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I. Nat Cell Biol. 2001;3:761-6 pubmed
    ..STAG3 interacts with the structural maintenance chromosome proteins SMC1 and SMC3, which have been reported to be subunits of the mitotic cohesin complex...
  7. Liu J, Zhang Z, Bando M, Itoh T, Deardorff M, Clark D, et al. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 2009;7:e1000119 pubmed publisher
    ..However, the binding sites are enriched within the promoter regions of the dysregulated genes and are significantly decreased in CdLS proband, indicating an alternative role of cohesin as a transcription factor...
  8. Kim S, Xu B, Kastan M. Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. Genes Dev. 2002;16:560-70 pubmed
    ..Protein complexes containing heterodimers of the Smc1 and Smc3 proteins have been implicated specifically in both sister chromatid cohesion and DNA recombination...
  9. Hauf S, Roitinger E, Koch B, Dittrich C, Mechtler K, Peters J. Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2. PLoS Biol. 2005;3:e69 pubmed
    ..The similarity of the phenotype obtained after expression of nonphosphorylatable SA2 in human cells to that seen after the depletion of Plk1 suggests that SA2 is the critical target of Plk1 in the cohesin dissociation pathway. ..
  10. Schmitz J, Watrin E, Lenart P, Mechtler K, Peters J. Sororin is required for stable binding of cohesin to chromatin and for sister chromatid cohesion in interphase. Curr Biol. 2007;17:630-6 pubmed
    ..Our data indicate that sororin interacts with chromatin-bound cohesin and functions during the establishment or maintenance of cohesion in S or G2 phase, respectively. ..
  11. Nishiyama T, Ladurner R, Schmitz J, Kreidl E, Schleiffer A, Bhaskara V, et al. Sororin mediates sister chromatid cohesion by antagonizing Wapl. Cell. 2010;143:737-49 pubmed publisher
    ..The mechanism we describe here may therefore be widely conserved among different species...
  12. Ma Z, Lin M, Li K, Fu Y, Liu X, Yang D, et al. Knocking down SMC1A inhibits growth and leads to G2/M arrest in human glioma cells. Int J Clin Exp Pathol. 2013;6:862-9 pubmed
    ..These results suggest that SMC1A upregulation is involved in the pathogenesis of glioma...
  13. Musio A, Montagna C, Mariani T, Tilenni M, Focarelli M, Brait L, et al. SMC1 involvement in fragile site expression. Hum Mol Genet. 2005;14:525-33 pubmed
    ..Here, we demonstrate that inhibition of the SMC1 by RNAi is sufficient to induce fragile site expression...
  14. Rankin S, Ayad N, Kirschner M. Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates. Mol Cell. 2005;18:185-200 pubmed
    ..We speculate that the protein, which we have named sororin, regulates the ability of the cohesin complex to mediate sister chromatid cohesion, perhaps by altering the nature of the interaction of cohesin with the chromosomes. ..
  15. Watrin E, Peters J. The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells. EMBO J. 2009;28:2625-35 pubmed publisher
    ..Earlier work has shown that phosphorylation of the cohesin subunits Smc1 and Smc3 is required for the intra-S checkpoint, but Smc1/Smc3 are also subunits of a distinct recombination ..
  16. Focarelli M, Montagna C, Colombo R, Ried T, Vezzoni P, Musio A. SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication. Mutat Res. 2006;595:23-8 pubmed
    ..pattern of the commonest fragile site FRA3B of RNA interference (RNAi)-mediated sister maintenance chromosome 1 (SMC1) inhibition in normal human fibroblasts...
  17. Wu N, Kong X, Ji Z, Zeng W, Potts P, Yokomori K, et al. Scc1 sumoylation by Mms21 promotes sister chromatid recombination through counteracting Wapl. Genes Dev. 2012;26:1473-85 pubmed publisher
    ..We propose that Scc1 sumoylation by Mms21 promotes SCR by antagonizing Wapl at a step after cohesin loading at DSBs and in a way not solely dependent on Smc3 acetylation. ..
  18. Perkins A, Das T, Panzera L, Bickel S. Oxidative stress in oocytes during midprophase induces premature loss of cohesion and chromosome segregation errors. Proc Natl Acad Sci U S A. 2016;113:E6823-E6830 pubmed
    ..scavenger superoxide dismutase (SOD) caused a significant increase in segregation errors, and heterozygosity for an smc1 deletion enhanced this phenotype...
  19. Hong S, Joo J, Yun H, Kim K. The nature of meiotic chromosome dynamics and recombination in budding yeast. J Microbiol. 2019;57:221-231 pubmed publisher least four core subunits that establish and maintain SCC: two structural maintenance chromosome subunits (Smc1 and Smc3), an α-kleisin subunit (Mcd1/Scc1 during mitosis and Rec8 during meiosis), and Scc3/Irr1 (SA1 and SA2)...
  20. Zhao Y, Ma H. [NIPBL gene mutations in two children with Cornelia de Lange syndrome]. Zhongguo Dang Dai Er Ke Za Zhi. 2018;20:387-391 pubmed
    ..R2612fsX20. The other patient had a nonsense mutation, c.505C>T, which caused a premature stop codon and produced truncated protein Q169X. Such mutations were not found in their parents or 50 unrelated healthy individuals. ..
  21. Mei J, Wang M, Wang X, Yao J. [Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:557-560 pubmed publisher
    ..A novel deletional mutation of the NIPBL gene has been identified, which has enriched its mutational spectrum and may facilitate further research into the genotype-phenotype correlation of CdLS. ..
  22. Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo M, Hernández Marcos M, Ramos Fuentes F, Pie Juste J. Cornelia de Lange syndrome: Congenital heart disease in 149 patients. Med Clin (Barc). 2017;149:300-302 pubmed publisher
    ..Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. ..
  23. Boyle M, Jespersgaard C, Nazaryan L, Ravn K, Brøndum Nielsen K, Bisgaard A, et al. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. Gene. 2015;572:130-134 pubmed publisher
    ..It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. ..
  24. Boudaoud I, Fournier E, Baguette A, Vallée M, Lamaze F, Droit A, et al. Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. Genetics. 2017;207:139-151 pubmed publisher
    ..Our findings suggest a dynamic model where NIPBL loads cohesin to connect genes in communities, offering an explanation for the gene expression deregulation in the CdLS. ..
  25. Schönewolf Greulich B, Bisgaard A, Møller R, Dunø M, Brøndum Nielsen K, Kaur S, et al. Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature. Clin Genet. 2017;: pubmed publisher
  26. Stracker T, Morales M, Couto S, Hussein H, Petrini J. The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex. Nature. 2007;447:218-21 pubmed
    ..Instead, the defects observed in Nbs1(DeltaC/DeltaC) result from impaired phosphorylation of ATM targets including SMC1 and the proapoptotic factor, BID.
  27. Miao Y, Zhu Y, Zhang Q, Guo H, Zhao Y, Cheng L, et al. [Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:493-497 pubmed publisher
    ..No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8. The c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients. ..
  28. Gill H, Leung A, Kwong Y. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. Int J Mol Sci. 2016;17:440 pubmed publisher
    ..A detailed understanding of the pathogenetic mechanisms leading to transformation is critical for designing single-agent or combinatorial approaches in target therapy of MDS. ..
  29. Kijas A, Lim Y, Bolderson E, Cerosaletti K, Gatei M, Jakob B, et al. ATM-dependent phosphorylation of MRE11 controls extent of resection during homology directed repair by signalling through Exonuclease 1. Nucleic Acids Res. 2015;43:8352-67 pubmed publisher
    ..Furthermore, while ATM-dependent phosphorylation of Kap1 and SMC1 was normal in MRE11S676AS678A cells, there was no phosphorylation of Exonuclease 1 consistent with the defect in ..
  30. Han Z, Chou C, Yang X, Bartlett M, Zheng Y. Profiling Cellular Substrates of Lysine Acetyltransferases GCN5 and p300 with Orthogonal Labeling and Click Chemistry. ACS Chem Biol. 2017;12:1547-1555 pubmed publisher
    ..We also experimentally validated two novel substrates of GCN5, that is, IQGAP1 and SMC1. These results demonstrate extensive engagement of GCN5 and p300 in cellular pathways and provide new insights into ..
  31. Li S, Yue Z, Tanaka T. Smc3 Deacetylation by Hos1 Facilitates Efficient Dissolution of Sister Chromatid Cohesion during Early Anaphase. Mol Cell. 2017;68:605-614.e4 pubmed publisher
    ..This action is probably due to disengagement of Smc1-Smc3 heads prompted by de-repression of their ATPase activity...
  32. Pozojevic J, Parenti I, Graul Neumann L, Ruiz Gil S, Watrin E, Wendt K, et al. Novel mosaic variants in two patients with Cornelia de Lange syndrome. Eur J Med Genet. 2018;61:680-684 pubmed publisher
    ..Next-generation sequencing technologies greatly facilitate the detection of low-level mosaicism, which might otherwise remain undetected by conventional sequencing approaches. ..
  33. Huisman S, Mulder P, Redeker E, Bader I, Bisgaard A, Brooks A, et al. Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A. 2017;173:2108-2125 pubmed publisher
  34. Shimura M, Toyoda Y, Iijima K, Kinomoto M, Tokunaga K, Yoda K, et al. Epigenetic displacement of HP1 from heterochromatin by HIV-1 Vpr causes premature sister chromatid separation. J Cell Biol. 2011;194:721-35 pubmed publisher
    ..Our study reveals for the first time centromere cohesion impairment resulting from epigenetic disruption of higher-order structures of heterochromatin by a viral pathogen. ..
  35. Gatei M, Jakob B, Chen P, Kijas A, Becherel O, Gueven N, et al. ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control. J Biol Chem. 2011;286:31542-56 pubmed publisher
    ..cells, it was defective in correcting DNA damage-induced signaling through the ATM-dependent substrate SMC1. This mutant also failed to correct radiosensitivity, DNA double-strand break repair, and an S-phase checkpoint ..
  36. Fang R, Barbera A, Xu Y, Rutenberg M, Leonor T, Bi Q, et al. Human LSD2/KDM1b/AOF1 regulates gene transcription by modulating intragenic H3K4me2 methylation. Mol Cell. 2010;39:222-33 pubmed publisher
    ..These data provide a possible molecular mechanism linking LSD2 to transcriptional regulation after initiation. ..
  37. Chen Y, Sharp Z, Lee W. HEC binds to the seventh regulatory subunit of the 26 S proteasome and modulates the proteolysis of mitotic cyclins. J Biol Chem. 1997;272:24081-7 pubmed
    ..Complementary DNAs encoding several proteins including MSS1, p45, Nek2, and Smc1/Smc2, known to be important for G2/M progression, were identified...
  38. Fazio G, Gaston Massuet C, Bettini L, Graziola F, Scagliotti V, Cereda A, et al. CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. J Cell Physiol. 2016;231:613-22 pubmed publisher
    ..Interestingly, expression analysis of Smc1a and Nipbl in developing mouse embryos reveals a specific pattern in the hindbrain, suggesting a role for cohesins in neural development in vertebrates. ..
  39. Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, et al. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet. 2007;15:143-9 pubmed
    ..mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene...
  40. Gregson H, Schmiesing J, Kim J, Kobayashi T, Zhou S, Yokomori K. A potential role for human cohesin in mitotic spindle aster assembly. J Biol Chem. 2001;276:47575-82 pubmed
    The cohesin multiprotein complex containing SMC1, SMC3, Scc3 (SA), and Scc1 (Rad21) is required for sister chromatid cohesion in eukaryotes...
  41. Van Hooser A, Ouspenski I, Gregson H, Starr D, Yen T, Goldberg M, et al. Specification of kinetochore-forming chromatin by the histone H3 variant CENP-A. J Cell Sci. 2001;114:3529-42 pubmed
  42. Kim B, Choi J, Kim Y, Woo H, Chung H. Reoxygenation following hypoxia activates DNA-damage checkpoint signaling pathways that suppress cell-cycle progression in cultured human lymphocytes. FEBS Lett. 2007;581:3005-12 pubmed
    ..The S-phase checkpoint, regulated by the ATM-p95/NBS1-SMC1 pathway, was also triggered in H/R-exposed lymphocytes...
  43. Parenti I, Rovina D, Masciadri M, Cereda A, Azzollini J, Picinelli C, et al. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. Epigenetics. 2014;9:973-9 pubmed publisher
    ..An extension of this study to a larger cohort containing mild to borderline cases could enhance our understanding of the clinical spectrum of SMC1A-linked CdLS. ..
  44. Shah V, Maddika S. CRL7SMU1 E3 ligase complex-driven H2B ubiquitylation functions in sister chromatid cohesion by regulating SMC1 expression. J Cell Sci. 2018;131: pubmed publisher
    ..This article has an associated First Person interview with the first author of the paper. ..
  45. Wong R. Interaction between Rae1 and cohesin subunit SMC1 is required for proper spindle formation. Cell Cycle. 2010;9:198-200 pubmed
  46. Wong M, Byun J, Sacta M, Jin Q, Baek S, Gardner K. Promoter-bound p300 complexes facilitate post-mitotic transmission of transcriptional memory. PLoS ONE. 2014;9:e99989 pubmed publisher
  47. Zhang C, Min L, Liu J, Tian W, Han Y, Qu L, et al. Integrated analysis identified an intestinal-like and a diffuse-like gene sets that predict gastric cancer outcome. Tumour Biol. 2016;: pubmed
    ..The malignant changes from the intestinal to diffuse subtype might be due to the reduction of the four intestinal-like genes, as well as the elevation of the five diffuse-like genes. ..
  48. Hei M, Gao X, Wu L. Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome. BMC Pediatr. 2018;18:64 pubmed publisher
    ..Clinical manifestations of CdLS patients from China are similar to those in the other countries. Heterozygous mutations of NIPBL gene were found. ..
  49. Banerji R, Eble D, Iovine M, Skibbens R. Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin. Dev Dyn. 2016;245:7-21 pubmed publisher
    ..Mutations in SCC2/NIPBL (encodes a cohesin loader), SMC3 or other cohesin genes (SMC1, RAD21/MCD1) give rise to a related developmental malady termed Cornelia de Lange syndrome (CdLS)...
  50. So E, Ouchi T. Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit. Exp Ther Med. 2011;2:443-447 pubmed
    ..In the present study, BAAT1 was found to bind to the DNA-PK catalytic subunit (DNA-PKcs) and SMC1. Biochemical analysis indicated that several regions of BAAT1 were responsible for the interaction with these ..
  51. Stedman W, Kang H, Lin S, Kissil J, Bartolomei M, Lieberman P. Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators. EMBO J. 2008;27:654-66 pubmed publisher
    ..RAD21 and SMC1 also associate with the cellular CTCF sites at mammalian c-myc promoter and H19/Igf2 imprinting control region...
  52. Sun Y, Yu H, Zou H. Nuclear exclusion of separase prevents cohesin cleavage in interphase cells. Cell Cycle. 2006;5:2537-42 pubmed
    ..We propose that the nuclear exclusion is important to prevent cohesin cleavage during interphase in the absence of securin and the phosphorylation inhibition. ..
  53. Xu Y, Sun S, Li N, Yu T, Wang X, Wang J, et al. Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. Gene. 2018;641:144-150 pubmed publisher
    ..We emphasized that deliberate selection of both the potential candidates and comprehensive detection methods for genetic analysis is important to increase the genetic diagnosis yield of syndromic craninosynostosis...
  54. Hong Z, Jiang J, Lan L, Nakajima S, Kanno S, Koseki H, et al. A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell. Nucleic Acids Res. 2008;36:2939-47 pubmed publisher
    ..Furthermore, we found that PHF1 interacts with a number of proteins involved in DNA damage responses, RAD50, SMC1, DHX9 and p53, further suggesting that PHF1, besides the function in PcG, is involved in genome maintenance ..
  55. Cucco F, Servadio A, Gatti V, Bianchi P, Mannini L, Prodosmo A, et al. Mutant cohesin drives chromosomal instability in early colorectal adenomas. Hum Mol Genet. 2014;23:6773-8 pubmed publisher
    ..Our findings that SMC1A mutations decrease from early adenomas to colorectal cancers and that mutations lead to CIN suggest that mutant cohesin could play a pivotal role during colorectal cancer development. ..
  56. Liu J, Feldman R, Zhang Z, Deardorff M, Haverfield E, Kaur M, et al. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009;30:1535-42 pubmed publisher
  57. Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, et al. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A. 2013;161A:2909-19 pubmed publisher
  58. Bermudez V, Farina A, Higashi T, Du F, Tappin I, Takahashi T, et al. In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex. Proc Natl Acad Sci U S A. 2012;109:9366-71 pubmed publisher
    ..describe the purification of the human (h)-Scc2/4 and show that it interacts with h-cohesin and the heterodimeric Smc1-Smc3 complex but not with the Smc1 or Smc3 subunit alone...
  59. Mehta K, Gunasekharan V, Satsuka A, Laimins L. Human papillomaviruses activate and recruit SMC1 cohesin proteins for the differentiation-dependent life cycle through association with CTCF insulators. PLoS Pathog. 2015;11:e1004763 pubmed publisher
    ..One arm is centered on p53, another on CHK2 and a third on SMC1/NBS1 proteins...
  60. Slomnicki L, Malinowska A, Kistowski M, Palusiński A, Zheng J, Sepp M, et al. Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment. Mol Cell Proteomics. 2016;15:2055-75 pubmed publisher
    ..g. EMG1, RPL10, DKC1, EIF4A3, FLNA, SMC1, ATRX, MCM4, NSD1, LMNA, or CUL4B), others including ADAR, LARP7, GTF2I, or TCF4 have no such connections known...
  61. Deardorff M, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489:313-7 pubmed publisher
    ..In humans, the multisubunit complex cohesin is made up of SMC1, SMC3, RAD21 and a STAG protein...
  62. Hansen J, Mohr J, Bürki S, Lemke J. A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clin Dysmorphol. 2013;22:143-5 pubmed publisher
  63. Wang Y, Qin J. MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. Proc Natl Acad Sci U S A. 2003;100:15387-92 pubmed
    ..with the ATR (ATM- and Rad3-related) kinase to form a signaling module and regulate the phosphorylation of Chk1 and SMC1 (structure maintenance of chromosome 1)...
  64. Schaaf C, Benzing J, Schmitt T, Erz D, Tewes M, Bartram C, et al. Novel interaction partners of the TPR/MET tyrosine kinase. FASEB J. 2005;19:267-9 pubmed
    ..Participation in apoptosis-regulating mechanisms through interaction with DAPK-3 and cell cycle control via binding to nuclear proteins such as CENPC and SMC-1 are possible new aspects of intracellular MET signaling. ..
  65. Li K, Ying M, Feng D, Chen Y, Wang J, Wang Y. SMC1 promotes epithelial-mesenchymal transition in triple-negative breast cancer through upregulating Brachyury. Oncol Rep. 2016;35:2405-12 pubmed publisher
    ..Structural maintenance of chromosome 1 (SMC1) is a subunit of the cohesion protein complex...
  66. Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff M, Menga S, et al. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res. 2012;11:6111-23 pubmed publisher
    ..This study allowed us to highlight, for the first time, specific biochemical pathways that are affected in CdLS, providing plausible causal evidence for some of the phenotypic features seen in CdLS. ..
  67. Jiang Y, Chen H, Su X, Thompson P, Liu X, Do K, et al. ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2). Blood Cancer J. 2016;6:e465 pubmed publisher
    ..b>SMC1 (structural maintenance of chromosomes 1) and KAP1 (KRAB-associated protein 1) were found to be unique substrates ..
  68. Inoue K, Borchers C, Negishi M. Cohesin protein SMC1 represses the nuclear receptor CAR-mediated synergistic activation of a human P450 gene by xenobiotics. Biochem J. 2006;398:125-33 pubmed
    ..Biol. Chem. 280, 3458-3466]. We have now identified the cohesin protein SMC1 (structural maintenance of chromosomes 1) as a CAR-binding protein and characterized it as a negative regulator of ..
  69. Strachan T. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev. 2005;15:258-64 pubmed
  70. Wang J, Yu S, Cui L, Wang W, Li J, Wang K, et al. Role of SMC1A overexpression as a predictor of poor prognosis in late stage colorectal cancer. BMC Cancer. 2015;15:90 pubmed publisher
    ..These results suggest that SMC1A plays an essential role in the development of CRC and may be a predictive factor in patients with CRC. The inhibition of SMC1A may serve as a promising therapeutic strategy for human CRC. ..
  71. Huber R, Kulemzina I, Ang K, Chavda A, Suranthran S, Teh J, et al. Impairing Cohesin Smc1/3 Head Engagement Compensates for the Lack of Eco1 Function. Structure. 2016;24:1991-1999 pubmed publisher
    The cohesin ring, which is composed of the Smc1, Smc3, and Scc1 subunits, topologically embraces two sister chromatids from S phase until anaphase to ensure their precise segregation to the daughter cells...
  72. Jeyakumar M, Liu X, Erdjument Bromage H, Tempst P, Bagchi M. Phosphorylation of thyroid hormone receptor-associated nuclear receptor corepressor holocomplex by the DNA-dependent protein kinase enhances its histone deacetylase activity. J Biol Chem. 2007;282:9312-22 pubmed
    ..Collectively, our results indicated that DNA-PK promotes the establishment of a repressive chromatin at a TR target promoter by enhancing the HDAC activity of the receptor-bound NCoR/SMRT corepressor complex. ..
  73. Yang Y, Zhang Z, Wang R, Ma W, Wei J, Li G. siRNA-mediated knockdown of SMC1A expression suppresses the proliferation of glioblastoma cells. Mol Cell Biochem. 2013;381:209-15 pubmed publisher
    ..Moreover, we found that SMC1A silencing led to S cell-cycle arresting. Collectively, these results demonstrated the possibility of siRNA-mediated silencing of SMC1A as a therapeutic tool for the treatment of glioblastoma. ..
  74. Brown C, Miller A, Carrel L, Rupert J, Davies K, Willard H. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum Mol Genet. 1995;4:251-5 pubmed
    The DXS423E gene has been localized to Xp11.21 and is expressed in somatic cell hybrids retaining either the human active or inactive X chromosome, demonstrating that DXS423E escapes X chromosome inactivation...
  75. Countryman P, Fan Y, Gorthi A, Pan H, Strickland J, Kaur P, et al. Cohesin SA2 is a sequence-independent DNA-binding protein that recognizes DNA replication and repair intermediates. J Biol Chem. 2018;293:1054-1069 pubmed publisher
    ..Current models attribute DNA binding by cohesin to entrapment of dsDNA by the cohesin ring subunits (SMC1, SMC3, and RAD21 in humans)...
  76. Pie J, Gil Rodríguez M, Ciero M, López Viñas E, Ribate M, Arnedo M, et al. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A. 2010;152A:924-9 pubmed publisher
    ..In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex...
  77. Ryu M, Kim B, Lee J, Lee M, Choi H, Kim S. Direct interaction between cohesin complex and DNA replication machinery. Biochem Biophys Res Commun. 2006;341:770-5 pubmed
    Structural maintenance of chromosome 1 (Smc1) is a multifunctional protein, which has been implicated in sister chromatid cohesion, DNA recombination and repair, and the activation of cell cycle checkpoints by ionizing radiation, ..
  78. Pan X, Gan S, Ye J, Fan Y, Hong Υ, Chu C, et al. SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. Int J Oncol. 2016;49:1963-1972 pubmed publisher
    ..Taken together, the present study indicates that SMC1A may play an important role in malignant transformation of PCa under conditions of androgen deprivation and act as a new target for PCa diagnosis and treatment. ..
  79. Jansen S, Kleefstra T, Willemsen M, de Vries P, Pfundt R, Hehir Kwa J, et al. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin Genet. 2016;90:413-419 pubmed publisher
    ..Our data show the existence of a novel phenotypic entity - distinct from CdLS - and caused by de novo SMC1A LoF mutations. ..
  80. Losada A, Yokochi T, Hirano T. Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts. J Cell Sci. 2005;118:2133-41 pubmed
    ..This idea would explain why cells lacking Pds5 function display rather complex and diverse phenotypes in different organisms. ..
  81. Symonds J, Joss S, Metcalfe K, Somarathi S, Cruden J, Devlin A, et al. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia. 2017;58:565-575 pubmed publisher
    ..Moderate or severe developmental impairment was apparent in all cases. Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. These mutations are likely to be nonviable in males. ..
  82. Holzmann J, Fuchs J, Pichler P, Peters J, Mechtler K. Lesson from the stoichiometry determination of the cohesin complex: a short protease mediated elution increases the recovery from cross-linked antibody-conjugated beads. J Proteome Res. 2011;10:780-9 pubmed publisher
    ..In summary, we show that the protease elution protocol increases the recovery from affinity beads and is compatible with quantitative measurements such as the stoichiometry determination of protein complexes. ..
  83. Limongelli G, Russo S, Digilio M, Masciadri M, Pacileo G, Fratta F, et al. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A. 2010;152A:2127-9 pubmed publisher
  84. Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo I, et al. Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome. Sci Rep. 2015;5:16803 pubmed publisher
    ..These findings highlight the pivotal role of cohesin in transcriptional regulation and provide an explanation for the typical gene dysregulation observed in CdLS patients. ..
  85. Kernohan K, Jiang Y, Tremblay D, Bonvissuto A, Eubanks J, Mann M, et al. ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain. Dev Cell. 2010;18:191-202 pubmed publisher
    ..We propose that ATRX, cohesin, and MeCP2 cooperate to silence a subset of imprinted genes in the postnatal mouse brain. ..
  86. Bermudez V, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J. The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA. Proc Natl Acad Sci U S A. 2003;100:10237-42 pubmed
    ..These results support a model in which sister chromatid cohesion is linked to DNA replication. ..
  87. Kim H, Baek K, Ha G, Lee J, Kim Y, Lee J, et al. The hsSsu72 phosphatase is a cohesin-binding protein that regulates the resolution of sister chromatid arm cohesion. EMBO J. 2010;29:3544-57 pubmed publisher
    ..Thus, our study provides important new evidence, suggesting that Ssu72 is a novel cohesin-binding protein capable of regulating cohesion between sister chromatid arms. ..