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  4. Recombinant Human Filamin-B (FLNB), partial

Recombinant Human Filamin-B (FLNB), partial

  • 中文名稱：
    人FLNB重組蛋白
  • 貨號：
    CSB-YP008725HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人FLNB重組蛋白
  • 貨號：
    CSB-EP008725HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人FLNB重組蛋白
  • 貨號：
    CSB-EP008725HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人FLNB重組蛋白
  • 貨號：
    CSB-BP008725HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人FLNB重組蛋白
  • 貨號：
    CSB-MP008725HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    ABP 278; ABP 280 homolog; ABP-278; ABP-280 homolog; ABP278; Actin binding like protein ; Actin binding protein 278; Actin-binding-like protein; AOI; Beta filamin; Beta-filamin; DKFZp686A1668; DKFZp686O033; Fh1; Filamin 1 actin binding protein 280 like ; Filamin 3 ; Filamin B; Filamin B beta actin binding protein 278; Filamin homolog 1; Filamin-3; Filamin-B; FLN B; FLN-B; FLN1L; FLN3; FLNB; FLNB_HUMAN; LRS1; SCT; TABP; TAP; Thyroid autoantigen; Truncated ABP; Truncated actin binding protein ; Truncated actin-binding protein
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    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.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.
  • 基因功能參考文獻：
    1. In conclusion, the authors identify filamin B as a novel host factor that can interact with core protein to promote hepatitis B virus replication in hepatocytes. PMID: 29594956
    2. We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. PMID: 28639312
    3. This is the first identified mutation in the dimerization domain of FLNB. This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB. PMID: 28145000
    4. Our results provide evidence for the involvement of FLNB in the pathogenesis of isolated Congenital talipes equinovarusand have expanded the clinical spectrum of FLNB mutations. PMID: 27395407
    5. splicing variants of FLNB are differentially expressed in giant cell tumor cells and may play a role in the proliferation and differentiation of tumor cells. PMID: 27779699
    6. F-actin clustering through the interaction with the mutant FLNB actin-binding domain may limit the cytoskeletal reorganization, preventing normal skeletal development. PMID: 26491051
    7. FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK. PMID: 25925610
    8. Polymorphism at rs11720285, rs11130605 and rs9809315, all of which are located either 5' of the transcription start site or in intron 1 of the FLNB gene has been identified as significantly associated with BMD in Caucasian women. PMID: 24176111
    9. study presents two patients with Atelosteogenesis Type I caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg PMID: 23401428
    10. VEGF and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7. PMID: 23401860
    11. The structure reveals a new hinge in the linker region between actin binding domain (ABD) and the first filamin repeat that is ideally positioned to orient the ABD for actin binding. PMID: 23036857
    12. skeletal dysplasias -associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. PMID: 22190451
    13. Multiple single nucleotide polymorphisms and haplotypes in FLNB were significantly associated with bone mineral density, with the strongest association between lumbar spine BMD and rs9828717 (p = 0.005). PMID: 19727905
    14. Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting. PMID: 20634891
    15. findings suggest common variants in FLNB have effects on bone structure in women. Although the location of variants having effects is not entirely consistent, variation at 5' end of the gene may reflect effects on levels of FLNB transcription efficiency PMID: 19453265
    16. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits PMID: 11807098
    17. role in vertebral segmentation, joint formation and endochondral ossification PMID: 14991055
    18. mutations cause four distinct disorders of skeletal development PMID: 15054484
    19. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain and occur at conserved sites. PMID: 15994868
    20. Novel missense mutations within exon 2 and exon 3 of the FLNB gene are associated with atelosteogenesis I and III. PMID: 16752402
    21. Mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome. PMID: 16801345
    22. Spondylocarpotarsal synostosis syndrome in a patient with a causal FLNB mutation. PMID: 18257094
    23. identifies filamin B as a molecular linker that mediates ICAM-1-driven transendothelial migration PMID: 18809679
    24. These results establish a novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis. PMID: 18815275
    25. FLNB and SBF2 are associated with human stature. PMID: 19039035
    26. anti-inflammatory activity of Serp-1 is mediated through modification of uPAR-linked beta-integrin and filamin B in monocytes, identifying this interaction as a central regulatory axis for inflammation PMID: 19052145
    27. High-resolution X-ray crystal structures of the human filamin B wild type actin-binding domain, plus W148R and M202V mutants. PMID: 19505475

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  • 相關疾病：
    Atelosteogenesis 1 (AO1); Atelosteogenesis 3 (AO3); Boomerang dysplasia (BOOMD); Larsen syndrome (LRS); Spondylocarpotarsal synostosis syndrome (SCT)
  • 亞細胞定位：
    [Isoform 1]: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines.; [Isoform 2]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 3]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 6]: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes.
  • 蛋白家族：
    Filamin family
  • 組織特異性：
    Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small i
  • 數據庫鏈接：

    HGNC: 3755

    OMIM: 108720

    KEGG: hsa:2317

    STRING: 9606.ENSP00000420213

    UniGene: Hs.476448



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