Property Summary

NCBI Gene PubMed Count 47
PubMed Score 33.26
PubTator Score 30.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
astrocytic glioma -1.400 4.1e-02
osteosarcoma -2.294 7.0e-05
posterior fossa group B ependymoma 1.600 1.0e-08
glioblastoma -1.400 1.2e-02
group 3 medulloblastoma 1.400 1.8e-03
spina bifida -1.603 4.2e-02
ovarian cancer -1.400 6.8e-03
pituitary cancer 1.700 3.7e-05

 MGI Phenotype (1)

Gene RIF (17)

PMID Text
26803492 a family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation.
25656847 Addition of the EGFR inhibitor gefitinib restores the sensitivity of SMARCE1-knockdown cells to MET and ALK inhibitors in NSCLCs. Our findings link SMARCE1 to EGFR oncogenic signaling and suggest targeted treatment options for SMARCE1-deficient tumors.
25611552 The results suggested that BAF57 is involved in ovarian cancer cell growth and sensitivity to anticancer agents, and that BAF57 may be a target for ovarian cancer therapy.
25168959 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SmarCE1 gene.
25143307 these results demonstrate that loss of SMARCE1 is relevant to cranial as well as spinal meningiomas
25081545 BAF complex gene SMARCE1 is mutated in Coffin-Siris syndrome patients.
24880093 Since both TTF1 and SMARCE1 are involved in chromatin remodeling, our results imply an epigenetic regulatory mechanism for T-cell recruitment that invites deciphering.
23493350 Data indicate that BAF57 deregulation predisposes to metastasis.
23377182 Our findings identify multiple-spinal-meningioma disease as a new discrete entity and establish a key role for the SWI/SNF complex in the pathogenesis of both meningiomas and tumors with clear-cell histology.
22419023 BAF57 expression was significantly associated with the surgical stage, grade of the tumor, myometrial invasion, lympho-vascular space invasion and lymph node metastasis in 111 endometrial carcinomas.
21465167 mutations in BAF57 could impinge on several oncogenic signaling pathways contributing to the origin and/or development of breast cancer.
20829358 Data show that the mechanism of BAF155-mediated stabilization of BAF57 involves blocking its ubiquitination by preventing interaction with TRIP12.
20460533 Knockdown of BAF57 resulted in an accumulation of cells in the G(2)-M phase, inhibition of colony formation, and impaired growth in soft agar. Knockdown of BAF57 also caused transcriptional misregulation of various cell cycle-related gene.
17669635 Ability of SMARCE 1 in modulating the replication efficiency of HBV.
16769725 BAF57 is a critical regulator of estrogen receptor function in breast cancer cells
16199878 protein levels of BAF155/170 dictate the maximum cellular amount of BAF57
16135788 BAF57-mediated cell death is associated with up-regulation of proapoptotic genes including the tumor suppressor familial cylindromatosis (CYLD), which is found to be a direct target of BAF57.

AA Sequence

MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPL      1 - 70
MPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYL     71 - 140
AYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSES    141 - 210
VVPDVRSVVTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEV    211 - 280
DMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEET    281 - 350
TESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE             351 - 411
//

Text Mined References (58)

PMID Year Title
26803492 2016 A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25656847 2015 SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer.
25611552 2015 Expression of BAF57 in ovarian cancer cells and drug sensitivity.
25416956 2014 A proteome-scale map of the human interactome network.
25249420 2015 Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
25143307 2014 Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
25081545 2014 Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
24880093 2014 Overexpression of SMARCE1 is associated with CD8+ T-cell infiltration in early stage ovarian cancer.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23493350 2013 Aberrant BAF57 signaling facilitates prometastatic phenotypes.
23377182 2013 Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
22419023 2012 Prognostic significance of BAF57 expression in patients with endometrial carcinoma.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21465167 2011 Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient.
21269460 2011 Initial characterization of the human central proteome.
20829358 2010 Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex.
20460533 2010 A role for BAF57 in cell cycle-dependent transcriptional regulation by the SWI/SNF chromatin remodeling complex.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18765789 2008 Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17669635 2007 Cellular transcription modulator SMARCE1 binds to HBV core promoter containing naturally occurring deletions and represses viral replication.
17363140 2007 The core component of the mammalian SWI/SNF complex SMARCD3/BAF60c is a coactivator for the nuclear retinoic acid receptor.
17043677 2007 Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia.
16919237 2006 Breast cancer metastasis suppressor 1 (BRMS1) is stabilized by the Hsp90 chaperone.
16769725 2006 The SWI/SNF chromatin remodeling subunit BAF57 is a critical regulator of estrogen receptor function in breast cancer cells.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16217013 2005 Heterogeneous nuclear ribonucleoprotein C1/C2, MeCP1, and SWI/SNF form a chromatin remodeling complex at the beta-globin locus control region.
16199878 2005 Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57.
16135788 2005 The BRG1- and hBRM-associated factor BAF57 induces apoptosis by stimulating expression of the cylindromatosis tumor suppressor gene.
16051670 2005 hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes.
15985610 2005 PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14743216 2004 A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12917342 2003 BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation.
12672490 2003 Recent advances in understanding chromatin remodeling by Swi/Snf complexes.
12637547 2003 Ets-2 and components of mammalian SWI/SNF form a repressor complex that negatively regulates the BRCA1 promoter.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12192000 2002 REST repression of neuronal genes requires components of the hSWI.SNF complex.
12145209 2002 Targeting of SWI/SNF chromatin remodelling complexes to estrogen-responsive genes.
12110891 2002 Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.
11734557 2002 SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones.
11726552 2001 Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11147808 2001 Characterization of SWI/SNF protein expression in human breast cancer cell lines and other malignancies.
11078522 2000 The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes.
10078207 1999 Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.
9435219 1998 Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.
8895581 1996 Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.
8804307 1996 Diversity and specialization of mammalian SWI/SNF complexes.