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  4. SYNE1 Recombinant Monoclonal Antibody

SYNE1 Recombinant Monoclonal Antibody

  • 中文名稱：
    SYNE1 Recombinant Monoclonal Antibody
  • 貨號：
    CSB-RA159195A0HU
  • 規格：
    ￥1320
  • 圖片：
    • Western Blot
      Positive WB detected in: HL-60 whole cell lysate(30μg), K562 whole cell lysate(30μg)
      All lanes: Nesprin 1 antibody at 1:1000
      Secondary
      Goat polyclonal to rabbit IgG at 1/40000 dilution
      Predicted band size: 1011 kDa
      Observed band size: 130 kDa
      Exposure time：2min
    • IHC image of CSB-RA159195A0HU diluted at 1:100 and staining in paraffin-embedded human glioma cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB.
    • Immunofluorescence staining of A549 cell with CSB-RA159195A0HU at 1:50, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
    • Overlay Peak curve showing HepG2 cells stained with CSB-RA159195A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for?10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/1*106cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/1*106cells) used under the same conditions. Acquisition of >10,000 events was performed.
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    SYNE1
  • 別名：
    Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1), SYNE1, C6orf98 KIAA0796 KIAA1262 KIAA1756 MYNE1
  • 反應種屬：
    Human
  • 免疫原：
    A synthesized peptide from human SYNE1 protein
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated
  • 克隆類型：
    Monoclonal
  • 抗體亞型：
    Rabbit IgG
  • 純化方式：
    Affinity-chromatography
  • 克隆號：
    9D11
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA, WB, IHC, IF, FC
  • 推薦稀釋比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:50-1:200
    IF 1:50-1:200
    FC 1:50-1:200
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能：
    Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.
  • 基因功能參考文獻：
    1. The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment. PMID: 28455503
    2. Authors screened 937 BPD samples for genetic variation in SYNE1 exons 14-33, which covers the CPG2 region, using high-resolution melt analysis. Nine patients are compound heterozygotes for variants in SYNE1/CPG2, suggesting that rare coding variants may contribute significantly towards the complex genetic architecture underlying BPD. PMID: 28178086
    3. The frequency of CACNA1C rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies were found in the genetic high-risk group than in controls. Polymorphisms in CACNA1C and SYNE1 could confer a greater risk of developing Schizophrenia and Bipolar Disorder in individuals who are already at high risk because of their family history. PMID: 27620326
    4. three novel rare variants (R8272Q, S8381C and N8406K) in the C-terminus of the SYNE1 gene (nesprin-1) were identified in seven dilated cardiomyopathy patients by mutation screening. Expression of these mutants caused nuclear morphology defects and reduced lamin A/C and SUN2 staining at the Nuclear envelope. PMID: 28398466
    5. We reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family with Emery-Dreifuss muscular dystrophy-like features, and 100 healthy individuals did not show such mutation. PMID: 28583108
    6. Nonsense mutation in the ultimate exon of full-length SYNE1 causes congenital onset of muscular weakness with distal arthrogryposis. PMID: 27782104
    7. The results show that nesprin-1-alpha2 is dynamically controlled and may be involved in some process occurring during early myofibre formation, such as re-positioning of nuclei. PMID: 27350129
    8. findings revise the view that SYNE1 ataxia causes mainly a relatively pure cerebellar recessive ataxia and that it is largely limited to Quebec. Instead, complex phenotypes with a wide range of extra-cerebellar neurological and nonneurological dysfunctions are frequent, including in particular motor neuron and brainstem dysfunction. PMID: 27086870
    9. This study demonstrate four novel truncating mutations in SYNE1 in pedigrees from British, Sri Lankan and Turkish origin in patient with cerebellar ataxia. PMID: 27178001
    10. A full length transcript homologous to rat CPG2 exists within human SYNE1. A full length transcript homologous to rat CPG2 exists within human SYNE1. PMID: 26704904
    11. SNP rs79575945 in ESR1 gene is associated with cancers of endometrioid subtype and resulted in the expression of SYNE1. PMID: 26330482
    12. Mechanostimulation mediates nuclear changes in oligodendrocyte progenitor cells via the SYNE1 complex. PMID: 26791211
    13. our data suggest that SYNE1 and FOXE1 are promising markers for colorectal cancer detection. PMID: 25538088
    14. Drosophila melanogaster larval muscles, exhibiting both elastic features contributed by the stretching capacity of MSP300 (nesprin) and rigidity provided by a perinuclear network of microtubules stabilized by Shot (spectraplakin) and EB1. PMID: 26008743
    15. ur results show that SNPs rs9371601 and rs3093664 in the SYNE1 and TNF genes respectively, are associated with menstrual migraine. PMID: 25315199
    16. A report of a family with a SYNE1 gene mutation that seems to cause an "Emery-Dreifuss muscular dystrophy-like" phenotype. PMID: 25091525
    17. a role for Nesprin-1 in the DNA damage response pathway PMID: 24781983
    18. FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue. PMID: 24280874
    19. These data identify p50(Nesp1) as a multi-functional P-body component and microtubule scaffold necessary for RNA granule dynamics and provides evidence for P-body and stress granule micro-heterogeneity. PMID: 24862572
    20. role of CSMD1 and SYNE1 in the etiology of bipolar disorder PMID: 24387768
    21. Two novel truncating mutations were found among the French-Canadian participants, and 2 other novel mutations were found in a patient from France and a patient from Brazil. PMID: 23959263
    22. The findings of this study add to the evidence that association of SYNE1 mutation influences susceptibility to bipolar and unipolar mood disorders. PMID: 22565781
    23. we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia PMID: 23325900
    24. These results indicate that nesprin-1 knockdown releases the nucleus from the tension of F-actin bound to the nucleus, thereby increasing allowance for deformation before stretching, and that F-actin bound to the nucleus through nesprin-1 causes sustainable force transmission to the nucleus. PMID: 22728879
    25. analysis of nsprin-1 mutations in human and murine cardiomyopathy PMID: 19944109
    26. Nesprin-1 depletion increased the number of focal adhesions and substrate traction while decreasing the speed of cell migration PMID: 20655839
    27. a single nucleotide polymorphism downstream of ESR1, a gene called spectrin repeat containing, nuclear envelope 1, was associated with invasive ovarian cancer risk PMID: 20056644
    28. Vertebrate Nesprin-1 and nesprin-2 proteins are orthologous to Drosophila melanogaster muscle protein MSP-300 PMID: 12408964
    29. The role of Syne-1 in cytokinesis involves an interaction with kinesin II. PMID: 14709720
    30. Enaptin is an element of the nuclear membrane and the actin cytoskeleton. PMID: 15093733
    31. The Nesprin-1 is essential for the interaction with a C-terminal region in SUN1 protein. PMID: 16079285
    32. These findings indicate that GSRP-56 is a small Golgi-localized splice-isoform of the spectrin-repeat-containing Syne1 gene. PMID: 16875688
    33. SYNE1 is the first identified gene responsible for a recessively inherited pure cerebellar ataxia. PMID: 17159980
    34. This study identified a cluster of French-Canadian families with a new recessive ataxia of relatively pure cerebellar type caused by mutations in SYNE1. PMID: 17503513
    35. Loss of Drop1 expression at early stages in carcinomas of the uterus, cervix, kidney, lung, thyroid and pancreas. PMID: 18709643
    36. splice site mutation of SYNE-1 gene found in the family is responsible for arthrogryposis multiplex congenita. PMID: 19542096

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  • 相關疾病：
    Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8); Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
  • 亞細胞定位：
    Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.; [Isoform GSRP-56]: Golgi apparatus.
  • 蛋白家族：
    Nesprin family
  • 組織特異性：
    Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predomi
  • 數據庫鏈接：

    HGNC: 17089

    OMIM: 608441

    KEGG: hsa:23345

    STRING: 9606.ENSP00000356224

    UniGene: Hs.12967



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