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  4. Recombinant Human Trafficking protein particle complex subunit 2 (TRAPPC2)

Recombinant Human Trafficking protein particle complex subunit 2 (TRAPPC2)

  • 货号：
    CSB-YP024227HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP024227HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP024227HU-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-BP024227HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP024227HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TRAPPC2
  • Uniprot No.：
  • 别名：
    TRAPPC2; SEDL; Trafficking protein particle complex subunit 2; Sedlin
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-140
  • 氨基酸序列
    MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD ENMWLSNNMY LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT DVYDLYIKFS MNPFYEPNSP IRSSAFDRKV QFLGKKHLLS
  • 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：
    Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
  • 基因功能参考文献：
    1. c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family. PMID: 26252088
    2. a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC caused spondyloepiphyseal dysplasia tarda PMID: 23656395
    3. Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family. PMID: 25297591
    4. identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis. PMID: 24841781
    5. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. PMID: 23876379
    6. Studies indicate that splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP. PMID: 23800666
    7. Sedlin bound and promoted efficient cycling of Sar1, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. PMID: 23019651
    8. Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8. PMID: 21858081
    9. Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex. PMID: 21827752
    10. SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1. PMID: 20498720
    11. The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14. PMID: 20108251
    12. Identification of the novel insertion mutation (c.370-371insA) in this X-linked spondyloepiphyseal dysplasia tarda family is predicted to result in frameshifts and generate a premature stop codon PMID: 19766614
    13. A novel mutation produces a truncated protein, which may be useful in determining carboxy-terminal function PMID: 12030902
    14. SEDL mutations are not a common cause of early primary osteoarthritis in men. PMID: 12123495
    15. The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the X-linked spondyloepiphyseal dysplasia tarda. PMID: 12579492
    16. A previously unreported deletion of T in exon 5 of SEDL gene (293delT) was observed in 2 spondyloepiphyseal dysplasia probands in a Chinese family; seven individuals in the family carry the mutation resulting in frameshift and a putative truncated protein PMID: 12650905
    17. 3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C), a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del). PMID: 12919139
    18. Sedl protein may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex PMID: 12939648
    19. Six novel SEDL mutations found in European X-linked spondyloepiphyseal dysplasia tarda patients. PMID: 15221797
    20. The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in SEDL patients, but not detected in unrelated normal male individuals. PMID: 15300622
    21. Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. PMID: 15952107
    22. SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL) PMID: 18247296
    23. A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree. PMID: 18393234
    24. results illustrate how disruption of the AT donor site in a rare AT-AC intron, leading to a canonical GT donor site, resulted in a multitude of aberrant transcripts, thus impairing exon definition of the SEDL gene. PMID: 19002213
    25. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. PMID: 19417549

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  • 相关疾病：
    Spondyloepiphyseal dysplasia tarda (SEDT)
  • 亚细胞定位：
    Cytoplasm, perinuclear region. Endoplasmic reticulum-Golgi intermediate compartment. Nucleus. Cytoplasm.
  • 蛋白家族：
    TRAPP small subunits family, Sedlin subfamily
  • 组织特异性：
    Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.
  • 数据库链接：

    HGNC: 23068

    OMIM: 300202

    KEGG: hsa:6399

    STRING: 9606.ENSP00000392495

    UniGene: Hs.592238