gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

BAF57, SMARCE1
The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: SWI, BRG1, INI1, CAN, SWI3
Papers on BAF57
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
New
Moertel et al., Minneapolis, United States. In Am J Med Genet A, Dec 2015
Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1.
Structural Modeling of GR Interactions with the SWI/SNF Chromatin Remodeling Complex and C/EBP.
New
Gursoy et al., İstanbul, Turkey. In Biophys J, Oct 2015
The structural models indicate that BAF57 and/or BAF250 mediate the interaction between the GR and the SWI/SNF-A complex, corroborating experimental data.
SMARCE1 mutations in pediatric clear cell meningioma: case report.
New
Bauer et al., Manchester, United Kingdom. In J Neurosurg Pediatr, Sep 2015
After resection, sequencing revealed an inactivating mutation in the SWI/SNF chromatin remodeling complex subunit SMARCE1, with loss of the second allele in the tumor.
PIAS-like protein Zimp7 is required for the restriction of the zebrafish organizer and mesoderm development.
New
Lomelí et al., Mexico. In Dev Biol, Aug 2015
Zimp7 has been shown to interact with components of the Wnt/β-Catenin signaling pathway and with Brg1 and BAF57, components of the ATP-dependent mammalian SWI/SNF-like BAF chromatin-remodeling complexes.
SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer.
New
Huang et al., Montréal, Canada. In Cell Res, Apr 2015
We report here that SMARCE1 loss induces EGFR expression and confers resistance to MET and ALK inhibitors in non-small cell lung cancers (NSCLCs).
Germline and somatic mutations in meningiomas.
Review
New
Smith, Manchester, United Kingdom. In Cancer Genet, Apr 2015
Recently, a second SWI/SNF complex subunit, SMARCE1, was identified as a cause of clear cell meningiomas, indicating a wider role for this complex in meningioma disease.
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Review
Carey et al., In Am J Med Genet C Semin Med Genet, 2014
In 2012, 42 years after the first description of CSS in 1970, five causative genes (SMARCB1, SMARCE1, SMARCA4, ARID1A, ARID1B), all encoding components of the BAF complex, were identified as being responsible for CSS through whole exome sequencing and pathway-based genetic screening.
SWI/SNF chromatin remodeling complexes and cancer.
Review
Weissman et al., In Am J Med Genet C Semin Med Genet, 2014
These include germline mutations and copy number alterations in SMARCB1, SMARCA4, SMARCE1, and PBRM1 that predispose carriers to both benign and malignant neoplasms.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Review
Matsumoto et al., Matsumoto, Japan. In Am J Med Genet A, 2013
We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations.
Coffin-Siris Syndrome
Review
Deardorff et al., Seattle, United States. In Unknown Journal, 2013
With the recent detection of heterozygous pathogenic variants in ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 in some (but not all) individuals with CSS, it is likely that diagnostic criteria will evolve.
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
Impact
Evans et al., Manchester, United Kingdom. In Nat Genet, 2013
We identified two individuals with heterozygous loss-of-function mutations in the SWI/SNF chromatin-remodeling complex subunit gene SMARCE1.
Prognostic significance of BAF57 expression in patients with endometrial carcinoma.
GeneRIF
Kohno et al., Kitakyūshū, Japan. In Histol Histopathol, 2012
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.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Impact
Matsumoto et al., Yokohama, Japan. In Nat Genet, 2012
Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.
Insights into role of bromodomain, testis-specific (Brdt) in acetylated histone H4-dependent chromatin remodeling in mammalian spermiogenesis.
GeneRIF
Rao et al., Bengaluru, India. In J Biol Chem, 2012
The N terminus of Brdt is involved in the recognition of Smarce1 as well as in the reorganization of hyperacetylated round spermatid chromatin.
Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient.
GeneRIF
Belandia et al., Madrid, Spain. In Breast Cancer Res Treat, 2011
mutations in BAF57 could impinge on several oncogenic signaling pathways contributing to the origin and/or development of breast cancer.
Teashirt-3, a novel regulator of muscle differentiation, associates with BRG1-associated factor 57 (BAF57) to inhibit myogenin gene expression.
GeneRIF
Fasano et al., Marseille, France. In J Biol Chem, 2011
suggest a novel mechanism for transcriptional repression by TSHZ3 in which TSHZ3 and BAF57 cooperate to modulate MyoD activity on the Myog promoter to regulate skeletal muscle differentiation.
Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex.
GeneRIF
Archer et al., United States. In J Biol Chem, 2010
Data show that the mechanism of BAF155-mediated stabilization of BAF57 involves blocking its ubiquitination by preventing interaction with TRIP12.
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
Impact
El-Osta et al., Australia. In Nat Genet, 2005
We used a number of different molecular approaches and chromatin immunoprecipitation strategies to show a unique cooperation between Brm, BAF57 and MeCP2.
Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.
Impact
GeneRIF
Crabtree et al., Palo Alto, United States. In Nature, 2002
Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.
A SWI/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro.
Impact
Emerson et al., Los Angeles, United States. In Cell, 1998
E-RC1 contains BRG1, BAF170, BAF155, and INI1 (BAF47) homologs of yeast SWI/SNF subunits, as well as a subunit unique to higher eukaryotes, BAF57, which is critical for chromatin remodeling and transcription with EKLF.
share on facebooktweetadd +1mail to friends