Recombinant Human Swi/Snf-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 (SMARCB1) Protein (His-SUMO)

Name: Recombinant Human Swi/Snf-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 (SMARCB1) Protein (His-SUMO)
Brand: Beta LifeScience
SKU: BLC-08588P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Swi/Snf-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 (SMARCB1) Protein (His-SUMO) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q12824
Target Symbol	SMARCB1
Synonyms	BAF47; BRG1-associated factor 47; hSNF5; INI1; Integrase interactor 1 protein; Malignant rhabdoid tumor suppressor; RDT; RTPS1; Sfh1p; SMARCB1; SNF5 homolog; SNF5_HUMAN; SNF5L1; Snr1; Sucrose nonfermenting yeast homolog like 1; SWI/SNF complex component SNF5; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; SWI10; Transcription factor TYE4; Transcription regulatory protein SNF5; TYE4
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-SUMO
Target Protein Sequence	MMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMR
Expression Range	2-376aa
Protein Length	Partial
Mol. Weight	59.0kDa
Research Area	Cell Cycle
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.
Subcellular Location	Nucleus.
Protein Families	SNF5 family
Database References	HGNC: 11103 OMIM: 162091 KEGG: hsa:6598 STRING: 9606.ENSP00000263121 UniGene: PMID: 29625594 We report two cases of SMARCB1-deficient tumours located in the meninges and occurring in young adults PMID: 27732747 The mosaic loss of INI1 expression is a reliable marker of schwannomatosis. PMID: 28365909 the malignancy risk in schwannomatosis is not well defined but may include an increased risk of malignant peripheral nerve sheath tumor in SMARCB1 Imaging protocols are also proposed for SMARCB1 and LZTR1 schwannomatosis and SMARCE1-related meningioma predisposition. PMID: 28620005 cribriform neuroepithelial tumor showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations. PMID: 27380723 Loss of SMARCB1/INI1 expression is considered to be a hallmark for childhood chordomas. PMID: 28825187 Our study, the first comprehensive analysis of RMC, supports a pivotal role for SMARCB1 in its development. PMID: 26433572 HRAS mutations were more common in epithelial-myoepithelial carcinomas (EMCAs) with intact PLAG1 and HMGA2. Most EMCAs arose ex pleomorphic adenoma (PA)and the genetic profile of EMCA varies with the absence or presence of preexisting PA and its cytogenetic signature. Progression to higher grade EMCA with intact PLAG1 and HMGA2 correlates with the presence of TP53, FBXW7 mutations, or SMARCB1 deletion. PMID: 29135520 Intronic hotspot variant of SMARCB1 was identified in atypical teratoid and rhabdoid tumors of two patients. This cryptic variant was absent in the germline DNA of both patients. PMID: 28722703 These highly mobile and invasive cells no longer depend on KRAS signaling and rely on the aberrant activation of mesenchymal programs regulated by the chromatin remodeling factor SMARCB1. Mouse models showed that Smarcb1 ablation could intensify cancer spread; conversely, restoring Smarcb1 slowed tumor growth and restored the cells to their less invasive, epithelial form PMID: 28228393 BAF57, BAF60a and SNF5 might act as novel pro-senescence factors in both normal and tumor human skin cells PMID: 28716547 Low SNF5 expression is associated with Hepatocellular Carcinoma. PMID: 27111394 SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters. PMID: 28945250 Interactions have been indicated between SMARCB1/INI1 protein and key proteins in various pathways related to tumor proliferation and progression. PMID: 28109176 The common loss of INI1 expression in rhabdoid and non-rhabdoid tumors will also open new therapeutic doors by developing targeted therapy strategies which may help to consolidate an initial treatment response to conventional radiochemotherapy. PMID: 27246730 Biallelic alterations in the INI1 gene were identified in 4 of the 5 cases of atypical teratoid/rhabdoid tumors. Three of the 4 cases harbored 2 different mutations, presumably on different alleles (compound heterozygous mutations), and 1 case of which had a splice-site mutation. PMID: 28338502 The epithelioid variant of schwannoma is rare, and loss of SMARCB1/INI1 expression has been observed in a subset of cases. Our aim was to further define the clinicopathologic features and to evaluate SMARCB1/INI1 deficiency in a large cohort of 65 epithelioid schwannomas diagnosed between 2002 and 2015 PMID: 28368924 SMARCB1 is required for the integrity of SWI/SNF complexes. PMID: 27941797 INI1 loss occurs rarely in colorectal carcinoma, where it is associated with higher grade, larger tumor size, poorer survival, mismatch repair deficiency, and BRAFV600E mutation. PMID: 27184481 SWI/SNF complexes lacking SMARCB1 are vital determinants of drug sensitivity, not just to TOP2A-targeted agents, but to the much broader range of cancer drugs effluxed by ABCB1. PMID: 27503929 SMARCB1-deficient sinonasal carcinoma represents an emerging poorly differentiated/undifferentiated sinonasal carcinoma. PMID: 28291122 Deletions in INI1 gene is associated with Small cell undifferentiated hepatoblastomas. PMID: 27356182 Our results confirm the pathogenic involvement of SMARCB1/INI1 in childhood chordoma PMID: 27635948 Rpt1 domain of INI1 may participate in ubiquitin recognition or binding with ubiquitin or ubiquitin related proteins. PMID: 27261671 Here, the authors first confirmed that SWIRM domain of BAF155 is responsible for its interaction with BAF47 and then narrowed down the SWIRM-binding region in BAF47 to the Repeat 1 (RPT1) domain. PMID: 28438634 Our results suggest a general role of miR-206,-381, and 671-5p in SMARCB1 gene silencing of epithelioid sarcomas(ES) , extraskeletal myxoid chondrosarcomas , malignant peripheral nerve sheath tumors and synovial sarcomas . In the future, miR-765 could possibly be a diagnostic tool for ES because of its 97% specificity and 80% sensitivity. PMID: 27223121 We conclude that in the context of 22q11-12 regional alterations present in SMARCB1-deleted tumors, simultaneous EWSR1 involvement may be misinterpreted as equivalent to EWSR1 rearrangement. A detailed clinicopathologic correlation and supplementing the EWSR1 FISH assay with complementary methodology is mandatory for correct diagnosis PMID: 27218413 SNF5 is indispensable for CRIF1-enhanced p53 activity and its function in the suppression of cell cycle arrest in human cancer cells. PMID: 28235567 INI1 re-expression suppresses cell proliferation and MYC-potentiated transformation. PMID: 27267444 Interfering INI1 or the INI1-SAP18 interaction leads to the impairment of these processes. PMID: 27558426 For the first time, we performed analysis of DNA methylation in SMARCB1/INI1-deficient sinonasal carcinomas, reporting on significantly higher methylation of RASSF1 gene in this neoplasm. PMID: 28069272 reporting involvement of the SWI/SNF complex in the dedifferentiation process of a variety of epithelial neoplasms in different organs, including the urinary tract, and association with aggressive clinical course PMID: 27339451 Case Report: renal cell carcinoma with Xp11.2 translocation, TFE3 rearrangement and SMARCB1 inactivation in end stage renal disease patient. PMID: 27733182 BZ was included in this study as a proteasome inhibitor because loss of SMARCB1 led to increased phosphorylation in rhabdoid tumo.rs Administration of BZ very strongly decreased cell proliferation of all three cell lines being the most cytotoxic compound of all tested substances PMID: 27466490 CAPZB is involved in tumor progression in cases of epithelioid sarcoma (EpiS), irrespective of the INI1 expression, and may be a potential therapeutic target. The paradoxical relationship between the tumor suppressor INI1 and the oncoprotein CAPZB in the pathogenesis of EpiS remains to be clarified PMID: 26965049 Missense mutation in SMARCB1 gene is associated with Coffin-Siris phenotype, and schwannomatosis. PMID: 26364901 we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism PMID: 26342593 study describes a rare case of a novel nonsense mutation in SMARCB1 that causes schwannomatosis; first report of a SMARCB1 mutation in a schwannomatosis family exhibiting (unilateral) vestibular schwannoma; results constitute a significant finding given that SMARCB1 mutations can cause both conditions via a four-hit mechanism PMID: 26342709 Case Report: SMARCB1-deficient vulvar sarcoma expressing ERG and FLI1. PMID: 26261664 Macaca mulatta SMARCB1 showed 23 single nucleotide differences compared to the human ortholog and the amino acid sequence is 100% conserved between human and simian INI1. PMID: 26350979 Reduced expression of SMARCB1 immunoreactivity was found to be highly sensitive and specific for synovial sarcoma. PMID: 26520417 Mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex. PMID: 26073604 Identification of SMARCB1 mutations adds to the growing literature regarding the role of epigenetic control mechanisms in melanoma progression and therapeutic resistance. PMID: 25754356 a novel INI1(+) ATRT-like subtype among Taiwanese pediatric patients PMID: 26109171 our data unravel differential roles for SWI/SNF subunits in muscle differentiation, with BAF47 playing a dual role both in the permanent cell cycle exit and in the regulation of muscle-specific genes. PMID: 25271443 Mutations in SMARCB1 occurred in areas of chromosomal copy loss in chordoma tumor samples. PMID: 24983247 in pancreatic undifferentiated rhabdoid carcinomas SMARCB1 loss is restricted to the anaplastic monomorphic subtype PMID: 25103069 Myoepithelioma-like tumors of the vulvar region deficient in SMARCB1 constitute a distinct group of tumors. PMID: 26171919 We conclude that SMARCB1-deficient vulvar neoplasms chiefly comprise epithelioid sarcoma and myoepithelial carcinoma PMID: 25651469 BAF complex gene SMARCB1 is mutated in Coffin-Siris syndrome patients. PMID: 25081545

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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