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  4. Recombinant Human SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), partial

Recombinant Human SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), partial

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  • 中文名称：
    人SMARCB1重组蛋白
  • 货号：
    CSB-EP623654HUa0
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
    SMARCB1
  • Uniprot No.：
  • 别名：
    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
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    49.0 kDa
  • 表达区域：
    2-376aa
  • 氨基酸序列
    MMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMR
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer，50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    1. This is the first report of SMARCB1-deficient squamous cell carcinoma of pleura. The tumor was highly aggressive and carried a poor prognosis with short survival. PMID: 29625594
    2. We report two cases of SMARCB1-deficient tumours located in the meninges and occurring in young adults PMID: 27732747
    3. The mosaic loss of INI1 expression is a reliable marker of schwannomatosis. PMID: 28365909
    4. 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
    5. cribriform neuroepithelial tumor showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations. PMID: 27380723
    6. Loss of SMARCB1/INI1 expression is considered to be a hallmark for childhood chordomas. PMID: 28825187
    7. Our study, the first comprehensive analysis of RMC, supports a pivotal role for SMARCB1 in its development. PMID: 26433572
    8. 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
    9. 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
    10. 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
    11. BAF57, BAF60a and SNF5 might act as novel pro-senescence factors in both normal and tumor human skin cells PMID: 28716547
    12. Low SNF5 expression is associated with Hepatocellular Carcinoma. PMID: 27111394
    13. SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters. PMID: 28945250
    14. Interactions have been indicated between SMARCB1/INI1 protein and key proteins in various pathways related to tumor proliferation and progression. PMID: 28109176
    15. 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
    16. 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
    17. 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
    18. SMARCB1 is required for the integrity of SWI/SNF complexes. PMID: 27941797
    19. 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
    20. 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
    21. SMARCB1-deficient sinonasal carcinoma represents an emerging poorly differentiated/undifferentiated sinonasal carcinoma. PMID: 28291122
    22. Deletions in INI1 gene is associated with Small cell undifferentiated hepatoblastomas. PMID: 27356182
    23. Our results confirm the pathogenic involvement of SMARCB1/INI1 in childhood chordoma PMID: 27635948
    24. Rpt1 domain of INI1 may participate in ubiquitin recognition or binding with ubiquitin or ubiquitin related proteins. PMID: 27261671
    25. Here, the s 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
    26. 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
    27. 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
    28. SNF5 is indispensable for CRIF1-enhanced p53 activity and its function in the suppression of cell cycle arrest in human cancer cells. PMID: 28235567
    29. INI1 re-expression suppresses cell proliferation and MYC-potentiated transformation. PMID: 27267444
    30. Interfering INI1 or the INI1-SAP18 interaction leads to the impairment of these processes. PMID: 27558426
    31. 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
    32. 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
    33. Case Report: renal cell carcinoma with Xp11.2 translocation, TFE3 rearrangement and SMARCB1 inactivation in end stage renal disease patient. PMID: 27733182
    34. 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
    35. 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
    36. Missense mutation in SMARCB1 gene is associated with Coffin-Siris phenotype, and schwannomatosis. PMID: 26364901
    37. we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism PMID: 26342593
    38. 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
    39. Case Report: SMARCB1-deficient vulvar sarcoma expressing ERG and FLI1. PMID: 26261664
    40. 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
    41. Reduced expression of SMARCB1 immunoreactivity was found to be highly sensitive and specific for synovial sarcoma. PMID: 26520417
    42. 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
    43. Identification of SMARCB1 mutations adds to the growing literature regarding the role of epigenetic control mechanisms in melanoma progression and therapeutic resistance. PMID: 25754356
    44. a novel INI1(+) ATRT-like subtype among Taiwanese pediatric patients PMID: 26109171
    45. 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
    46. Mutations in SMARCB1 occurred in areas of chromosomal copy loss in chordoma tumor samples. PMID: 24983247
    47. in pancreatic undifferentiated rhabdoid carcinomas SMARCB1 loss is restricted to the anaplastic monomorphic subtype PMID: 25103069
    48. Myoepithelioma-like tumors of the vulvar region deficient in SMARCB1 constitute a distinct group of tumors. PMID: 26171919
    49. We conclude that SMARCB1-deficient vulvar neoplasms chiefly comprise epithelioid sarcoma and myoepithelial carcinoma PMID: 25651469
    50. BAF complex gene SMARCB1 is mutated in Coffin-Siris syndrome patients. PMID: 25081545

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  • 相关疾病：
    Rhabdoid tumor predisposition syndrome 1 (RTPS1); Schwannomatosis 1 (SWNTS1); Coffin-Siris syndrome 3 (CSS3)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    SNF5 family
  • 数据库链接：

    HGNC: 11103

    OMIM: 162091

    KEGG: hsa:6598

    STRING: 9606.ENSP00000263121

    UniGene: Hs.534350