Property Summary

NCBI Gene PubMed Count 80
PubMed Score 59.39
PubTator Score 112.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (24)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.685 2.6e-02
oligodendroglioma 1.700 3.6e-02
psoriasis 1.200 1.2e-03
astrocytoma 2.400 1.4e-04
glioblastoma 1.600 2.0e-09
osteosarcoma -1.788 1.5e-06
posterior fossa group A ependymoma 1.800 9.3e-12
group 3 medulloblastoma 2.100 5.4e-04
atypical teratoid/rhabdoid tumor 1.400 1.7e-05
medulloblastoma, large-cell 2.100 3.1e-06
primitive neuroectodermal tumor 1.700 8.2e-05
juvenile dermatomyositis 1.572 1.5e-11
acute quadriplegic myopathy 2.489 1.8e-08
intraductal papillary-mucinous adenoma (... 1.100 1.0e-03
intraductal papillary-mucinous carcinoma... 1.100 8.5e-03
Breast cancer 2.800 2.4e-02
pediatric high grade glioma 1.700 7.7e-06
pilocytic astrocytoma 1.400 3.5e-09
aldosterone-producing adenoma -1.020 1.6e-02
nasopharyngeal carcinoma 1.100 1.3e-05
lung adenocarcinoma 1.046 6.0e-04
ovarian cancer 1.700 3.1e-03
Down syndrome 1.500 5.9e-04
dermatomyositis 1.800 9.7e-04

Gene RIF (45)

PMID Text
26637483 SMC1A plays an oncogenic role in colorectal cancer.
26581180 numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene, were identified.
26386245 two novel de novo heterozygous frameshift mutations in the SMC1A gene were identified in two patients with developmental delay and epilepsy.
26358754 Loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy.
26206533 same down-regulation of cohesin targets is observed in SMC1A-mutated patient fibroblasts
25884313 Results show that SMC1A is overexpressed in colorectal cancer tissues and correlated with poor prognosis for late stage disease.
25875106 Our findings identify both SMC1 and CTCF as critical regulators of the differentiation-dependent life cycle of high-risk human papillomaviruses
25080505 The SMC1a mutation leads to chromosomal instability and tumorigenesis in early colorectal adenomas.
24756084 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.
24124034 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.
23863341 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
23776448 Human SMC3 knock-down rendered SMC1 instable without cytoplasmic accumulation.
23754617 Inhibiting SMC1A expression efficiently (P < 0.001) resulted in inhibiting the proliferation and colony formation of U251 and U87MG glioblastoma cells.
23717600 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
23683030 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
23638217 These results suggest that SMC1A upregulation is involved in the pathogenesis of glioma.
23125841 Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23106691 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.
22965847 NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have congenital heart diseases in Cornelia de lange syndrome.
21875947 Tandem affinity purification and mass spectrometry analysis identify structural maintenance of chromosomes 1A (SMC1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
21757780 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.
21056556 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
20635401 SMC1A missense mutation is associated with Cornelia de Lange syndrome.
20514443 Low SMC1A expression predicts poor survival in acute myeloid leukemia.
20358602 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.
20358602 Observational study of gene-disease association. (HuGE Navigator)
20016259 Interaction between Rae1 and cohesin subunit SMC1 is required for proper spindle formation.
19701948 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.
19468298 Transcription in severely affected Cornelia de Lange Syndrome probands has identified a unique profile of dysregulated gene expression that correlates with phenotypic severity and SMC1A binding analysis demonstrates a preference for intergenic regions.
19414588 SMC1, a substrate of ATM, could not be phosphorylated at the DNA damage sites in the absence of PTIP
19052029 This study identified duplications Cornelia de Lange syndrome (CdLS) on chromosomes 5 or X using genome wide array comparative genomic hybridisation (aCGH). The duplicated regions contain either the NIPBL or the SMC1A genes.
18996922 Cornelia de Lange syndrome mutations in SMC1A or SMC3 bind to DNA with higher affinity and display genomic instability.
18832153 SMC1 is recruited to microtubule-bound RNA export factor 1 (Rae1) at the mitotic spindle pole.
18763866 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.
18299561 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
17544403 The S-phase checkpoint, regulated by the ATM-p95/NBS1-SMC1 pathway, was also triggered in hypoxia/reoxygenation-exposed lymphocytes.
17273969 Mutations in SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
17106445 So far, two genes (NIPBL and SMC1L1) have been identified causing Cornelia de Lange syndrome (CdLS) or CdLS-like phenotypes.
17102637 nuclear exclusion is important to prevent cohesin cleavage during interphase in the absence of securin and the phosphorylation inhibition
16623664 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.
16604071 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
16242161 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.
16043481 RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1.
15640246 Inhibition of SMC1 is associated with chromosomal aberrations
12199140 This protein is localized at the kinetochores and is involved in cell division.

AA Sequence

MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPV      1 - 70
GKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAV     71 - 140
ESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQ    141 - 210
RLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQI    211 - 280
EKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEF    281 - 350
EERMEEESQSQGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK    351 - 420
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARID    421 - 490
RQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYI    491 - 560
KEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAF    561 - 630
GGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQ    631 - 700
VQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMN    701 - 770
QVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQ    771 - 840
TVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQK    841 - 910
EVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIE    911 - 980
IDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARK    981 - 1050
RAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGK   1051 - 1120
RFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLK   1121 - 1190
EEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ                              1191 - 1233
//

Text Mined References (88)

PMID Year Title
26637483 2016 Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells.
26581180 2015 Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.
26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
26206533 2016 CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
25884313 2015 Role of SMC1A overexpression as a predictor of poor prognosis in late stage colorectal cancer.
25875106 2015 Human papillomaviruses activate and recruit SMC1 cohesin proteins for the differentiation-dependent life cycle through association with CTCF insulators.
25080505 2014 Mutant cohesin drives chromosomal instability in early colorectal adenomas.
24756084 2014 Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24136289 2013 Identification and comparative analysis of hepatitis C virus-host cell protein interactions.
24124034 2013 Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
23863341 2013 A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.
23776448 2013 Imbalance of SMC1 and SMC3 cohesins causes specific and distinct effects.
23754617 2013 siRNA-mediated knockdown of SMC1A expression suppresses the proliferation of glioblastoma cells.
23717600 2013 Role of SMC1 in overcoming drug resistance in triple negative breast cancer.
23683030 2014 Could a patient with SMC1A duplication be classified as a human cohesinopathy?
23638217 2013 Knocking down SMC1A inhibits growth and leads to G2/M arrest in human glioma cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
22977523 2011 Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.
22965847 2012 Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
21757780 2011 ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21242291 2011 RAD21L, a novel cohesin subunit implicated in linking homologous chromosomes in mammalian meiosis.
21056556 2011 Cohesin phosphorylation and mobility of SMC1 at ionizing radiation-induced DNA double-strand breaks in human cells.
20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
20514443 2010 Low SMC1A protein expression predicts poor survival in acute myeloid leukemia.
20358602 2010 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20016259 2010 Interaction between Rae1 and cohesin subunit SMC1 is required for proper spindle formation.
19701948 2009 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19468298 2009 Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
19414588 2009 PTIP regulates 53BP1 and SMC1 at the DNA damage sites.
19052029 2009 Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
18996922 2009 Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
18832153 2008 Cohesin subunit SMC1 associates with mitotic microtubules at the spindle pole.
18763866 2008 NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18299561 2008 Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17544403 2007 Reoxygenation following hypoxia activates DNA-damage checkpoint signaling pathways that suppress cell-cycle progression in cultured human lymphocytes.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17106445 2007 Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
17102637 2006 Nuclear exclusion of separase prevents cohesin cleavage in interphase cells.
16623664 2006 Cohesin protein SMC1 represses the nuclear receptor CAR-mediated synergistic activation of a human P450 gene by xenobiotics.
16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
16438930 2006 Direct interaction between cohesin complex and DNA replication machinery.
16242161 2006 SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication.
16043481 2005 RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
15917200 2005 Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.
15837422 2005 Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates.
15772651 2005 The DNA sequence of the human X chromosome.
15640246 2005 SMC1 involvement in fragile site expression.
15635413 2005 Nucleolar proteome dynamics.
15546961 2005 Novel interaction partners of the TPR/MET tyrosine kinase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14657349 2003 MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.
12930902 2003 The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.
12607005 2003 MDC1 is a mediator of the mammalian DNA damage checkpoint.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12226669 2002 Comprehensive proteomic analysis of the human spliceosome.
12199140 2002 Localization of human SMC1 protein at kinetochores.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11877377 2002 SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.
11790298 2002 Directed proteomic analysis of the human nucleolus.
11682612 2001 Specification of kinetochore-forming chromatin by the histone H3 variant CENP-A.
11590136 2001 A potential role for human cohesin in mitotic spindle aster assembly.
11564881 2001 Novel meiosis-specific isoform of mammalian SMC1.
11076961 2000 Characterization of vertebrate cohesin complexes and their regulation in prophase.
10931856 2000 Identification and characterization of SA/Scc3p subunits in the Xenopus and human cohesin complexes.
10409732 1999 Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins.
9789013 1998 Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics.
9295362 1997 HEC binds to the seventh regulatory subunit of the 26 S proteasome and modulates the proteolysis of mitotic cyclins.
8724849 1996 Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
8076819 1994 The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression.
7757075 1995 The DXS423E gene in Xp11.21 escapes X chromosome inactivation.
7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.