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  4. Recombinant Human Tuberin (TSC2), partial

Recombinant Human Tuberin (TSC2), partial

  • 中文名稱：
    人TSC2重組蛋白
  • 貨號(hào)：
    CSB-YP343033HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱：
    人TSC2重組蛋白
  • 貨號(hào)：
    CSB-EP343033HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱：
    人TSC2重組蛋白
  • 貨號(hào)：
    CSB-EP343033HU-B
  • 規(guī)格：
  • 來(lái)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TSC2重組蛋白
  • 貨號(hào)：
    CSB-BP343033HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人TSC2重組蛋白
  • 貨號(hào)：
    CSB-MP343033HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    FLJ43106; LAM; OTTHUMP00000158940; OTTHUMP00000198394; OTTHUMP00000198395; PPP1R160; Protein phosphatase 1; regulatory subunit 160; TSC complex subunit 2; tsc2; TSC2_HUMAN; TSC4; TSC4 gene; formerly; TSC4; formerly; Tuberin; Tuberous sclerosis 2; Tuberous sclerosis 2 protein; Tuberous sclerosis 2 protein homolog
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)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(chǎn)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(fù)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(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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(xiàng)：
    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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5.
  • 基因功能參考文獻(xiàn)：
    1. Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. PMID: 29758070
    2. This study demonstrated that the TSC2 mutation related the cerebellar abnormalities in tuberous sclerosis complex. PMID: 29882962
    3. a novel TSC2 mutation is a cause of mild tuberous sclerosis in a family and has reduced expression PMID: 28659645
    4. Data found that TSC2 negatively regulates the expression of EP3 in an mTORC1- independent manner. PMID: 28710231
    5. Mutations in TSC2 gene on chromosome 9q34 that encode tuberin are associated with fetal Cardiac Rhabdomyoma that can be the initial finding in patients with Tuberous Sclerosis Complex. 5 known "pathogenic" TSC2-causing gene mutations were confirmed, also detected 6 "likely pathogenic" mutations. PMID: 29642139
    6. When exposed to urotensin-II, TSC2-deficient cells exhibited greater migration, anchorage-independent cell growth, and matrix invasion PMID: 27458154
    7. To the best of our knowledge, this is the first report of the c.3599G>C (p.R1200P) variant in exon 29 of the TSC2 gene related to a severe clinical course and multiple kidney transplants in a patient with tuberous sclerosis. PMID: 29308833
    8. These results demonstrate Tsc2-deficient mesenchymal progenitors cause aberrant morphogenic signals, and identify an expression signature including Lgals3 relevant for human disease of TSC1/TSC2 inactivation and mTORC1 hyperactivity. PMID: 28695825
    9. Functional validation of the oncogenic cooperativity and targeting potential of tuberous sclerosis mutation in medulloblastoma using a MYC-amplified model cell line PMID: 28409891
    10. This case provides evidence for a unique TSC2 mutation that resulted in an atypical clinical presentation and indicates potential shortcomings of the current diagnostic criteria for TSC. These findings may have implications for genetic counseling and screening. PMID: 28127866
    11. we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC. This finding has significant implications for counseling patients regarding prognosis. PMID: 28211972
    12. The results highlight a new role of TSC2 in protecting glioblastoma against photodynamic therapy-induced cell death, and TSC2 and YWHAZ as new RIP3 partners. PMID: 27984090
    13. Study provides new information regarding cerebellar lesions in tuberous sclerosis complex: cerebellar lesions are significantly much more frequent in patients with TSC2 mutations than TSC1 mutations or patients with no mutation identified, and Crus II is the most frequent location of cerebellar lesions. PMID: 28786492
    14. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified in patients with tuberous sclerosis complex; the patient with TSC2 mutation manifested a more severe clinical phenotype PMID: 28288225
    15. Novel missense mutation in the exon 19 of the TSC2 gene is associated with tuberous sclerosis. PMID: 28397210
    16. Mutation in TSC2 is associated with lymphangioleiomyomatosis. PMID: 28202529
    17. Results show that tuberous sclerosis complex disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1838Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. PMID: 28336152
    18. Clinical whole exome sequencing of blood and tumor samples con fi rmed the diagnosis of methylmalonic acidemia and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence. PMID: 27748010
    19. TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy/cell proliferation. PMID: 27542907
    20. TSC2 mutations leading to severe tuberous sclerosis in Chinese children. PMID: 27859028
    21. These results suggested that TSC2 heterozygosity caused neurological malformations in primitive neural stem cells, indicating that its heterozygosity might be sufficient for the development of neurological abnormalities in patients. PMID: 28344003
    22. the first structural information on TSC2/tuberin with novel insight into the molecular function. PMID: 27493206
    23. Novel TSC2 mutations in Chinese patients with tuberous sclerosis. PMID: 28178598
    24. Gankyrin overexpression activates mTORC1 signaling and accelerating TSC2 degradation in colorectal tumor cells. PMID: 26975632
    25. data provide the first evidence that tuberin plays a novel role in regulating ROS generation, NADPH oxidase activity, and Nox expression that may potentially be involved in development of kidney tumor in patients with tuberous sclerosis complex PMID: 27278252
    26. Our evidence suggests that variants in TSC2 exons 25 or 31 are very unlikely to cause classical TSC, although a role for these exons in tissue/stage specific development cannot be excluded. PMID: 26703369
    27. In children with tuberous sclerosis complex, nonsense mutations in the TSC2 gene had a correlation with autistic behavior. PMID: 24698169
    28. By interfering with TSC-Rheb complex, arginine relieves allosteric inhibition of Rheb by TSC. Arginine cooperates with growth factor signaling which further promotes dissociation of TSC2 from lysosomes and activation of mTORC1. PMID: 26742086
    29. Results confirm strong association between TSC2 mutation and angiomyolipoma burden, and they indicate that everolimus response occurs regardless of mutation type or location or when no mutation in TSC1 or TSC2 has been identified. PMID: 25782670
    30. Tuberous sclerosis is a syndrome caused by dominant mutations in Tuberin (TSC2),causing Autism spectrum disorder - like behaviors, seizures, intellectual disability and characteristic brain and skin lesions. PMID: 26393489
    31. Lysosomal recruitment of TSC2 is a universal response to stimuli that inactivate mTORC1, and that the presence of any single stress is sufficient to cause TSC2 lysosomal localization. PMID: 26868506
    32. results confirm the consistent finding of TSC2 mutations in LAM samples, and highlight the benefit of laser capture microdissection and in-depth allele analyses for detection, such as NGS PMID: 26563443
    33. Data shows frequent loss of TSC2 in hepatocellular carcinoma cells (HCC) and that TSC2-null cell lines were more sensitive to mTOR inhibition by everolimus suggesting that TSC2 loss is a predictive biomarker for the response to everolimus in HCC patients. PMID: 25724664
    34. Multiple mutations in TSC2 during kidney development lead to severe phenotype of multifocal renal cell carcinoma. PMID: 25432535
    35. A short segment of chromosome 16 encodes the tumor suppressor gene tuberin as well as the protein polycystin 1, which are responsible for tuberous sclerosis complex type 2 and autosomal-dominant polycystic kidney disease type 1, respectively. PMID: 25355409
    36. A novel frame-shifting mutation c.4258-4261delTCAG in the TSC2 gene is associated with tuberous sclerosis in a Chinese family. PMID: 26252095
    37. pUL38 can activate mTORC1 in both TSC2-dependent and -independent manners. PMID: 25972538
    38. a novel frame shift Tuberous Sclerosis Complex-2 Mutation in three patients with Tuberous sclerosis complex but with different severity of symptoms PMID: 25563326
    39. these results demonstrate that TSC2-deficient cells have enhanced choline phospholipid metabolism and reveal a novel function of the TSC proteins in choline lysoglycerophospholipid metabolism PMID: 25780943
    40. This study demonstrates that TSC2-deficient tumor cells are hypersensitive to oxidative stress-dependent cell death, and provide critical proof of concept that TSC2-deficient cells can be therapeutically targeted PMID: 25185584
    41. TSC2/mTORC1 signaling contributes to the maintenance of intestinal epithelium homeostasis by regulating Notch activity. PMID: 25654764
    42. In TSC2-deficient angiomyolipoma patient cells, IRF7 is a pivotal factor in the Rheb/mTOR pathway. PMID: 25476905
    43. Studied conditions that increase the sensitivity of cancer cells to MK-2206. and found reduction by salinomycin of Akt and downregulation of pAkt, pGSk3beta, pTSC2, and p4EBP1 by cotreatment with MK-2206. PMID: 25114899
    44. The features of alpha-smooth muscle cells of a patient affected by lymphangioleiomyomatosis associated with Tuberous sclerosis complex, named LAM/TSC cells, bearing a TSC2 mutation and an epigenetic defect causing the absence of tuberin, were investigated. PMID: 24606538
    45. study describes 2 cases of genetically proven TCS2, sharing the same genotype; detected a novel, small and in frame deletion/insertion TSC2 mutation on exon 30 (c.3664_3665delinsTT-p.Asp1222Phe) PMID: 24794161
    46. This is the first mutation and multiplex ligation-dependent probe amplification (MLPA) analyses of TSC2 in Korean Angiomyolipomas that focus on tuberous sclerosis complex. PMID: 25281918
    47. This work indicates a novel role for this TSC2 gene, which encodes an activator of cell proliferation in response to androgen stimulation. PMID: 24318044
    48. TSC2 somatic second-hit mutations are associated with angiofibroma development in tuberous sclerosis. PMID: 24271014
    49. TSC2 mutations are associated with a more severe, earlier presenting tuberous sclerosis complex phenotype. PMID: 24917535
    50. Two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively. PMID: 24683199

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  • 相關(guān)疾?。?/div>
    Tuberous sclerosis 2 (TSC2); Lymphangioleiomyomatosis (LAM); Focal cortical dysplasia 2 (FCORD2)
  • 亞細(xì)胞定位：
    Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.
  • 組織特異性：
    Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 12363

    OMIM: 191092

    KEGG: hsa:7249

    STRING: 9606.ENSP00000219476

    UniGene: Hs.90303