Property Summary

NCBI Gene PubMed Count 57
Grant Count 178
R01 Count 98
Funding $41,369,935.5
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 0.003
malignant mesothelioma 1.900 0.000
psoriasis -2.800 0.001
osteosarcoma -1.961 0.000
group 3 medulloblastoma 2.500 0.001
periodontitis -1.100 0.000
primitive neuroectodermal tumor 1.600 0.004
adrenocortical carcinoma 1.365 0.009
non-small cell lung cancer 1.026 0.000
lung cancer 2.000 0.005
pediatric high grade glioma 1.100 0.023
atypical teratoid/rhabdoid tumor 1.500 0.001
progressive supranuclear palsy -1.500 0.005
ovarian cancer 3.200 0.000

Synonym

Accession Q9UQE7 A8K156 O60464 Q5T482 SMC protein 3
Symbols BAM
BMH
HCAP
CDLS3
CSPG6
SMC3L1

Gene

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.
More...

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.
More...