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  4. Recombinant Human T-box transcription factor TBX1 (TBX1)

Recombinant Human T-box transcription factor TBX1 (TBX1)

  • 货号：
    CSB-YP023245HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP023245HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP023245HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP023245HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP023245HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TBX1
  • Uniprot No.：
  • 别名：
    Brachyury; CAFS; CTHM; DGCR; DGS; DORV; T box; T box 1; T box 1 transcription factor; T box 1 transcription factor C; T box protein 1; T box transcription factor TBX 1; T box transcription factor TBX1; T-box protein 1; T-box transcription factor TBX1; TBX 1; TBX 1C; tbx1; TBX1_HUMAN; TBX1C; Testis specific T box protein; Testis-specific T-box protein; TGA; VCFS
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-398
  • 氨基酸序列
    MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET SRNTPEREVE LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 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：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Probable transcriptional regulator involved in developmental processes. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence. Is required for normal development of the pharyngeal arch arteries.
  • 基因功能参考文献：
    1. a mutation, c.303-305delGAA, located in the third exon of TBX1 that does not disrupt TBX1 mRNA expression or DNA binding activity, but results in decreased TBX1 protein levels and transcriptional activity. PMID: 28272434
    2. The screening of TBX1 coding sequence identified a novel missense mutation c.569C>A (p.P190Q) in six unrelated patients with syndromic congenital heart defects. PMID: 29596833
    3. PCR and western blotting demonstrated that TBX1 expression may be associated with congenital heart disease. PMID: 29568912
    4. Studied expression, function, and regulation of T-box transcription factor (TBX1), in human parathyroid adult normal and tumor tissues. PMID: 28920943
    5. A genome wide are study to identify acute kidney injury risk in critically ill patients identified a locus on chromosome 22 found 140kb upstream of TBX1, and may affect pathways that contribute to AKI pathophysiology. PMID: 27576016
    6. The results clearly suggest a possible etiologic association between the TBX1 deletion and Tetralogy of Fallot. PMID: 26036351
    7. TBX1 loss-of-function mutation with enhanced susceptibility to double outlet right ventricle (DORV) and ventricular septal defect (VSD)in humans, which provides novel insight into the molecular mechanism underlying Congenital heart disease (CHD). PMID: 25860641
    8. SNPs in three genes CYP26B1 rs2241057, CISD1 rs2251039, rs2590370, and TBX1 rs4819522 were involved in six potential pathways to influence serum prostate-specific antigen levels. PMID: 25168891
    9. TBX1 T-box domain binds DNA as two distinct monomers. PMID: 22095455
    10. TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes. PMID: 24637876
    11. Findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects. PMID: 23828768
    12. Observations suggest that TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated conotrucal heart defects (CTDs)in patients without 22q11.2 deletion. PMID: 24998776
    13. Results show that TBX1 regulates brain angiogenesis through the DLL4/Notch1-VEGFR3 regulatory axis. PMID: 23945394
    14. DNA sequence variants within the TBX1 gene promoter may change TBX1 level, contributing to indirect inguinal hernia development as a rare risk factor PMID: 24295890
    15. TBX1 can alter TGF-beta/BMP, an important signaling pathway, through interacting with HOXD10. Above findings may shed light on the mechanism of TBX1 mutations leading to renal malformations found in patients carrying a 22q11 deletion. PMID: 22842189
    16. shRNA silencing of the T-box transcription factor Brachyury resulted in downregulation of the EMT and stem cell markers in adenoid cystic carcinoma cell lines. Brachyury expression in clinical samples of AdCC was extremely high and closely related to EMT. PMID: 22931165
    17. common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant. PMID: 23034814
    18. The sequence variants within TBX1 gene promoter may contribute to the ventricular septal defect etiology by altering the expression levels of TBX1 gene. PMID: 22801995
    19. We describe eight patients with variable phenotype features harboring atypical distal deletions of chromosome 22q11.2 not encompassing the TBX1 gene. PMID: 22893440
    20. common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome (TBX1 ) PMID: 21796729
    21. TBX1 genetic variants may be associated with conotruncal heart defects. PMID: 22185286
    22. This is the first comprehensive investigation of common and rare TBX1 genetic variants in non-syndromic tetralogy of Fallot cases and it has identified a rare novel functional genetic variant that is a likely susceptibility factor to tetralogy of Fallot. PMID: 20937753
    23. Studies indicate that mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes. PMID: 20497193
    24. Brachyury is overexpressed in various human tumor tissues and tumor cell lines compared with normal tissues. PMID: 20071775
    25. mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects PMID: 11748311
    26. identified a single cis-element upstream of Tbx1 that recognized winged helix/forkhead box (Fox)-containing transcription factors PMID: 12533514
    27. Genetic dissection of the DiGeorge syndrome phenotype. PMID: 12858556
    28. Mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients. PMID: 15337468
    29. a novel nuclear localization signal in Tbx1 is deleted in DiGeorge syndrome patients harboring the 1223delC mutation PMID: 15703190
    30. role for Tbx1 in mediating epithelial-mesenchymal signalling in regions of the developing face PMID: 16586352
    31. Data show that deficits in prepulse inhibition, a behavioral abnormality and schizophrenia endophenotype, in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l. PMID: 16684884
    32. TBX1 missense mutations cause gain of function resulting in Shprintzen syndrome PMID: 17273972
    33. screen for TBX1 gene mutations identified 2 mutations in patients with some features compatible with 22q11.2-deletion syndrome but with no deletions. PMID: 17377518
    34. T-box transcription factor and a molecule implicated in mesodermal developmecan may be a potential target for human T-cell-mediated cancer immunotherapy. PMID: 17438107
    35. TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS. PMID: 17622328
    36. Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population. PMID: 17850965
    37. T-bet expression does not inhibit interferon-alpha-dependent interleukin-2 secretion in human T(central memory) cells. PMID: 19050236
    38. Fluorescent in situ hybridisation analysis on FGFR4, ETS2 and brachyury failed to show either amplification or translocation for ERG and ETS2 loci PMID: 19407855
    39. Atypical deletion of 22q11.2 detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays is reported. PMID: 19467348

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  • 相关疾病：
    DiGeorge syndrome (DGS); Velocardiofacial syndrome (VCFS); Conotruncal heart malformations (CTHM)
  • 亚细胞定位：
    Nucleus.
  • 数据库链接：

    HGNC: 11592

    OMIM: 188400

    KEGG: hsa:6899

    UniGene: Hs.173984