Property Summary

NCBI Gene PubMed Count 57
PubMed Score 104.94
PubTator Score 174.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
Rheumatoid Arthritis 2.600 2.8e-03
malignant mesothelioma 1.900 1.8e-07
psoriasis -2.800 8.3e-04
osteosarcoma -1.961 2.9e-04
group 3 medulloblastoma 2.500 8.1e-04
periodontitis -1.100 1.2e-22
primitive neuroectodermal tumor 1.600 4.4e-03
adrenocortical carcinoma 1.365 8.9e-03
non-small cell lung cancer 1.026 1.8e-09
lung cancer 2.000 4.7e-03
pediatric high grade glioma 1.100 2.3e-02
atypical teratoid/rhabdoid tumor 1.500 1.4e-03
progressive supranuclear palsy -1.500 4.8e-03
ovarian cancer 3.200 7.6e-06

Gene RIF (26)

PMID Text
25655089 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
25414306 cohesin's proposed DNA exit gate is formed by interactions between Scc1 and the coiled-coil region of Smc3.
25006131 Cross-sectional deep-sequencing analysis for clonal hierarchy demonstrated STAG2, SMC3, and RAD21 mutations to be ancestral in 18%, 18%, and 47% of cases, respectively, and each expanded to clonal dominance concordant with disease transformation
24335498 Mutations in SMC3 is associated with acute myeloid leukemia.
23776448 Upon knock-down of human SMC1, much of SMC3 remains stable, accumulates in the cytoplasm and does not associate with other cohesin proteins.
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 HIV-1 Vpr decreases the amount of Smc1 and Smc3 proteins in the chromatin
21126432 SMC3 and separase are upregulated and securin is downregulated in malignant transformation of BEAS-2B cells induced by coal tar pitch smoke extracts.
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)
19454010 HIV-1 Vpr decreases the amount of Smc1 and Smc3 proteins in the chromatin
19444697 these studies clearly suggest that bamacan interacts with the vaccinia virus-N1L and such interactions seem to play a positive role in promoting the viral growth and perhaps contribute to the virulence of VV in neural cells.
19094982 Data describe alterations of myocardial intercellular and cell-matrix contacts in hypertrophic tissue, and show intracellular translocation of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 in both an animal model and in LVH patients.
18996922 Cornelia de Lange syndrome mutations in SMC1A or SMC3 bind to DNA with higher affinity and display genomic instability.
18727658 There were greater levels of chondroitin sulphate WF6 epitope in gingival crevicular fluid from destructive sites of patients with chronic periodontitis compared with non-destructive sites of patients with gingivitis or chronic periodontitis.
18614053 This study identified a molecular target for the acetyltransferase Eco1 and revealed that Smc3 acetylation is a conserved mechanism in regulating sister chromatid cohesion.
18442975 phosphorylation of a core cohesin subunit SMC3 by ATM plays an important role in DNA damage
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
17273969 Mutations in SMC3 cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
17081288 SMC3 deficiency affects chromosomal stability leading to the activation of p53-dependent mitotic checkpoint.
16385451 Observational study of gene-disease association. (HuGE Navigator)
16156898 RhoB and cAMP cis-acting response elements -BPa two known oncogenic mediators whose expression is significantly increased following SMC3 overexpression play a significant role in mediating SMC3 tumorigenesis
16043481 RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC3.
15656913 Hinderin is a novel binding partner of SMC3. Based on its ability to modulate SMC1/SMC3 interaction we postulate that Hinderin affects the availability of SMC3 to engage in the formation of multimeric protein complexes
12651860 identification as target for beta-catenin/T-cell factor 4 transactivation pathway

AA Sequence

MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTG      1 - 70
PRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVK     71 - 140
QGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEEL    141 - 210
AQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTK    211 - 280
ISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPK    281 - 350
FNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL    351 - 420
EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDL    421 - 490
EKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNFECEPAFYTCVEVTAGNRLFY    491 - 560
HIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAYPETNDAIPMISKLRYNPRFDKAFKHVFGKT    561 - 630
LICRSMEVSTQLARAFTMDCITLEGDQVSHRGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENL    631 - 700
RRNIERINNEIDQLMNQMQQIETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAM    701 - 770
ESTRESLKAELGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRL    771 - 840
DQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKSMERWKNMEKE    841 - 910
HMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTLSLKQLFRKLEQCNTELKKYS    911 - 980
HVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNVLELRKYEAIQLTFKQVSKNFSEVFQKLVPG    981 - 1050
GKATLVMKKGDVEGSQSQDEGEGSGESERGSGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQK   1051 - 1120
SLVALALIFAIQKCDPAPFYLFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVK   1121 - 1190
FRNKVSHIDVITAEMAKDFVEDDTTHG                                              1191 - 1217
//

Text Mined References (68)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25655089 2015 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
25414306 2014 Characterization of a DNA exit gate in the human cohesin ring.
25006131 2014 Genetic alterations of the cohesin complex genes in myeloid malignancies.
24335498 2014 Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications.
24299456 2014 Interaction of human minichromosome maintenance protein-binding protein with minichromosome maintenance 2-7.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23776448 2013 Imbalance of SMC1 and SMC3 cohesins causes specific and distinct effects.
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.
22965847 2012 Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
22540012 2012 Interactions of the human MCM-BP protein with MCM complex components and Dbf4.
22293751 2012 APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer.
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.
21126432 2010 [Change of structural maintenance of chromosome (SMC)1, SMC3, Separase and Securin expression in BEAS-2B malignant transformation cell induced by coal tar pitch smoke extracts].
20818333 2010 The hsSsu72 phosphatase is a cohesin-binding protein that regulates the resolution of sister chromatid arm cohesion.
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.
19907496 2009 Cohesin acetylation speeds the replication fork.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19629043 2009 The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19444697 2009 The proteoglycan bamacan is a host cellular ligand of vaccinia virus neurovirulence factor N1L.
19367720 2008 Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.
19094982 2009 Expression and tissue localization of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 is modulated during rat and human left ventricular hypertrophy.
18996922 2009 Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
18727658 2008 Raised chondroitin sulphate WF6 epitope levels in gingival crevicular fluid in chronic periodontitis.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18614053 2008 Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast.
18442975 2008 Regulation of intra-S phase checkpoint by ionizing radiation (IR)-dependent and IR-independent phosphorylation of SMC3.
18299561 2008 Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.
17962804 2007 Protein requirements for sister telomere association in human cells.
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.
17349791 2007 Sororin is required for stable binding of cohesin to chromatin and for sister chromatid cohesion in interphase.
17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17113138 2006 Wapl controls the dynamic association of cohesin with chromatin.
17112726 2006 Human Wapl is a cohesin-binding protein that promotes sister-chromatid resolution in mitotic prophase.
17105772 2006 The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells.
17081288 2006 SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells.
16682347 2006 Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16156898 2005 Global gene expression profiling of cells overexpressing SMC3.
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.
15855230 2005 Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts.
15837422 2005 Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates.
15656913 2005 Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3.
15635413 2005 Nucleolar proteome dynamics.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15125634 2004 Cohesin component dynamics during meiotic prophase I in mammalian oocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12759374 2003 Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis.
12651860 2003 The cohesin SMC3 is a target the for beta-catenin/TCF4 transactivation pathway.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11983169 2002 Molecular architecture of SMC proteins and the yeast cohesin complex.
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.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
10801778 2000 Overexpression of bamacan/SMC3 causes transformation.
9789013 1998 Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics.
9528857 1998 Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc.
9506951 1998 Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide.