Phospho-SMC1A (S966) Antibody

1. Both the SMC1A and SMC3 gene mutation tests were negative in all Chinese patients with Cornelia de Lange syndrome. PMID: 29452578
2. maintenance of the cancer cell state is dependent on recruitment of Mediator and Cohesin through FOXA and master transcription factors PMID: 27739523
3. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes. PMID: 28548707
4. All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before. PMID: 29037998
5. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. PMID: 28102598
6. Elevated expression of SMC1A in colorectal cancer cells promoted liver metastasis by recruiting the circulating tumor-associated fibroblasts. PMID: 27826041
7. This study demonstrated that Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. PMID: 28166369
8. Our data show the existence of a novel phenotypic entity - distinct from Cornelia de Lange syndrome - and caused by de novo SMC1A loss-of-function mutations PMID: 26752331
9. We identified a large number of mutations in the CC region of both Smc1 and Smc3... we introduced them to the yeast Smc1 and Smc3 CC domains and characterized the effect of these mutant alleles on cohesin's function. We identified a missense mutation in the region of the kink domain of Smc3, which was previously identified in kidney carcinoma. PMID: 27307603
10. High SMC1A expression is associated with prostate cancer. PMID: 27667360
11. Results showed that the high expression of SMC1 often promoted epithelial-mesenchymal transition, accompanied by the enhanced expression of Brachyury in triple-negative breast cancer cells. PMID: 26781859
12. SMC1A plays an oncogenic role in colorectal cancer. PMID: 26637483
13. Loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy. PMID: 26358754
14. numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene, were identified. PMID: 26581180
15. two novel de novo heterozygous frameshift mutations in the SMC1A gene were identified in two patients with developmental delay and epilepsy. PMID: 26386245
16. Our findings identify both SMC1 and CTCF as critical regulators of the differentiation-dependent life cycle of high-risk human papillomaviruses PMID: 25875106
17. same down-regulation of cohesin targets is observed in SMC1A-mutated patient fibroblasts PMID: 26206533
18. Results show that SMC1A is overexpressed in colorectal cancer tissues and correlated with poor prognosis for late stage disease. PMID: 25884313
19. The SMC1a mutation leads to chromosomal instability and tumorigenesis in early colorectal adenomas. PMID: 25080505
20. A dominant negative effect is considered the pathogenic mechanism in SMC1A-defective female patients, the level of allelic preferential expression might be one of the factors contributing to the wide phenotypic variability observed in these patients. PMID: 24756084
21. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies PMID: 23683030
22. The mutation c.1731G>A/p.E577E in our patient expands the mutational spectrum of SMC1A to splice site mutations and also represents the first exonic synonymous splice site mutation observed in any human cohesinopathy PMID: 23863341
23. Our clinical and molecular findings expand the total number of characterized SMC1A-mutated patients (from 44 to 52) and the restricted repertoire of SMC1A mutations (from 29 to 34), contributing to the molecular and clinical signature of SMC1A-based CdLS. PMID: 24124034
24. Inhibiting SMC1A expression efficiently (P < 0.001) resulted in inhibiting the proliferation and colony formation of U251 and U87MG glioblastoma cells. PMID: 23754617
25. Human SMC3 knock-down rendered SMC1 instable without cytoplasmic accumulation. PMID: 23776448
26. studies report for the first time that SMC1 is overexpressed in TNBC cells where it plays a role in cell migration and drug sensitivity, and thus provides a potential therapeutic target for this highly invasive breast cancer subtype PMID: 23717600
27. These results suggest that SMC1A upregulation is involved in the pathogenesis of glioma. PMID: 23638217
28. c-MYC down-regulation caused by cohesin mutations in SMC1A and SMC3 genes may be an early/primary event in the pathogenesis of Cornelia de Lange syndrome. PMID: 23106691
29. NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have congenital heart diseases in Cornelia de lange syndrome. PMID: 22965847
30. phosphorylation of Rad50 plays a key regulatory role as an adaptor for specific ATM-dependent downstream signaling through SMC1 for DNA repair and cell cycle checkpoint control in the maintenance of genome integrity. PMID: 21757780
31. phosphorylation of SMC1 is required for an increased mobility after DNA damage in G2-phase cells, suggesting that ATM-dependent phosphorylation facilitates mobilization of the cohesin complex after DNA damage PMID: 21056556
32. SMC1A missense mutation is associated with Cornelia de Lange syndrome. PMID: 20635401
33. Low SMC1A expression predicts poor survival in acute myeloid leukemia. PMID: 20514443
34. The identification of 14 additional mutations of the cohesin complex genes NIPBL and SMC1A in a cohort of 30 unrelated patients with Cornelia de Lange syndrome, is reported. PMID: 20358602
35. Interaction between Rae1 and cohesin subunit SMC1 is required for proper spindle formation. PMID: 20016259
36. results suggest that mechanistically SMC1A-related Cornelia de Lange Syndrome is not due to altered levels of the SMC1A transcript, but rather that the mutant proteins maintain a residual function in males and enact a dominant negative effect in females. PMID: 19701948
37. This protein is localized at the kinetochores and is involved in cell division. PMID: 12199140
38. Inhibition of SMC1 is associated with chromosomal aberrations PMID: 15640246
39. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1. PMID: 16043481
40. Replication timing of FRA3B in G2 was studied by bromodeoxyuridine (BrdU) labeling by a fluorescence in situ hybridization (FISH)-based approach through the analysis of clones spanning the FRA3B region. PMID: 16242161
41. mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for Cornelia de Lange syndrome in three male members of an affected family and in one sporadic case PMID: 16604071
42. SMC1 binding represses OARE [OA (okadaic acid) response element] activity and its dissociation allows the recruitment of CAR(constitutive active/androstane receptor) to the OARE, synergizing the expression of the CYP2B6 gene. PMID: 16623664
43. nuclear exclusion is important to prevent cohesin cleavage during interphase in the absence of securin and the phosphorylation inhibition PMID: 17102637
44. So far, two genes (NIPBL and SMC1L1) have been identified causing Cornelia de Lange syndrome (CdLS) or CdLS-like phenotypes. PMID: 17106445
45. Mutations in SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation PMID: 17273969
46. The S-phase checkpoint, regulated by the ATM-p95/NBS1-SMC1 pathway, was also triggered in hypoxia/reoxygenation-exposed lymphocytes. PMID: 17544403
47. identified as one of five genes containing 11 somatic mutations in a panel that included 132 colorectal cancers, then demonstrated that down-regulation of such homologs resulted in chromosomal instability and chromatid cohesion defects in human cells PMID: 18299561
48. ATM plays a fundamental role in promoting the radiation-induced interaction of NBS1 with SMC1 in the presence of BRCA1, leading to the maintenance of chromosomal integrity. PMID: 18763866
49. SMC1 is recruited to microtubule-bound RNA export factor 1 (Rae1) at the mitotic spindle pole. PMID: 18832153
50. Cornelia de Lange syndrome mutations in SMC1A or SMC3 bind to DNA with higher affinity and display genomic instability. PMID: 18996922

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Cornelia de Lange syndrome 2 (CDLS2)

Nucleus. Chromosome. Chromosome, centromere, kinetochore. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere-kinetochore complex at the kinetochore region during mitosis.

SMC family, SMC1 subfamily

HGNC: 11111

OMIM: 300040

KEGG: hsa:8243

STRING: 9606.ENSP00000323421

UniGene: Hs.211602