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  4. Recombinant Human Treacle protein (TCOF1), partial

Recombinant Human Treacle protein (TCOF1), partial

  • 中文名称：
    人TCOF1重组蛋白
  • 货号：
    CSB-YP619765HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人TCOF1重组蛋白
  • 货号：
    CSB-EP619765HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人TCOF1重组蛋白
  • 货号：
    CSB-EP619765HU-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：
  • 中文名称：
    人TCOF1重组蛋白
  • 货号：
    CSB-BP619765HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人TCOF1重组蛋白
  • 货号：
    CSB-MP619765HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TCOF1
  • Uniprot No.：
    Q13428
  • 别名：
    Mandibulofacial dysostosis; MFD1; Nucleolar trafficking phosphoprotein; TCOF 1; TCOF_HUMAN; TCOF1; TCS; TCS1; Treacher Collins Franceschetti syndrome 1; Treacher Collins syndrome; Treacher Collins syndrome protein; Treacle; Treacle protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 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

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TCOF1 antibodies

靶点详情

  • 功能：
    Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification.
  • 基因功能参考文献：
    1. Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum. PMID: 29230583
    2. Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. PMID: 27526242
    3. The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration. PMID: 27300466
    4. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
    5. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. PMID: 24603435
    6. findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage. PMID: 25512513
    7. we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified PMID: 23695276
    8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS PMID: 24690222
    9. Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks. PMID: 25064736
    10. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients. PMID: 23838542
    11. Presents the case of a male with Treacher Collins syndrome with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7), as well as findings from three other individuals from two families with the same mutation. PMID: 22729243
    12. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene. PMID: 21848650
    13. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome. PMID: 22317976
    14. Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome. PMID: 21951868
    15. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1 PMID: 20003452
    16. The identification of a novel pathogenic missense change in exon 2 of the TCOF1 gene suggests that a functionally important domain of treacle exists near the N-terminus. PMID: 12114482
    17. Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus. PMID: 12210332
    18. Identification of 231-nucleotide(nt) exon 6A and 108-nt exon 16A and isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A. PMID: 15019983
    19. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome). PMID: 15039977
    20. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). PMID: 15249688
    21. A novel mutation within exon 6A is associated with Treacher Collins syndrome. PMID: 15832313
    22. The -346T allele impairs DNA-binding to the YY1 transcription factor, and this promoter variant represents a candidate allele to explain the clinical variability in patients bearing Treacher Collins syndrome. PMID: 16102917
    23. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. PMID: 16801042
    24. These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms. PMID: 17786119
    25. TCOF1 may influence risk of cleft palate through maternal transmission. PMID: 18688869
    26. It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells. PMID: 19027870
    27. The novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). PMID: 19067896
    28. central repeated domain of treacle binds with RNA polymerase I, while that the treacle C-terminus is involved in rDNA promoter recognition and UBF recruitment. PMID: 19527688

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  • 相关疾病：
    Treacher Collins syndrome 1 (TCS1)
  • 亚细胞定位：
    Nucleus, nucleolus.
  • 数据库链接：

    HGNC: 11654

    OMIM: 154500

    KEGG: hsa:6949

    STRING: 9606.ENSP00000421655

    UniGene: Hs.519672

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