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Recombinant Human Collagen alpha-3 (VI) chain (COL6A3), partial

  • 中文名稱:
    Recombinant Human Collagen alpha-3(VI) chain(COL6A3),partial
  • 貨號:
    CSB-CF005753HUa6
  • 規格:
    ¥5028
  • 圖片:
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他:

產品詳情

  • 純度:
    Greater than 85% as determined by SDS-PAGE.
  • 基因名:
  • Uniprot No.:
  • 別名:
    CO6A3_HUMAN; COL6A3; Collagen alpha-3(VI) chain; Collagen type VI alpha 3; Collagen VI alpha 3
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Partial
  • 來源:
    in vitro E.coli expression system
  • 分子量:
    48.5 kDa
  • 表達區域:
    2853-3176aa
  • 氨基酸序列
    HKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMG
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽:
    N-terminal 6xHis-B2M-tagged
  • 產品提供形式:
    Liquid or 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.
  • 緩沖液:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期:
    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:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA:
    Please contact us to get it.

產品評價

靶點詳情

  • 功能:
    Collagen VI acts as a cell-binding protein.
  • 基因功能參考文獻:
    1. COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process. PMID: 30066698
    2. The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast PMID: 30014607
    3. Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC. PMID: 29620224
    4. COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function. PMID: 29465610
    5. two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. PMID: 29894794
    6. COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. PMID: 26687111
    7. Overexpression of endotrophin led to a fibrotic program in white adipose tissue (WAT) adipocytes, a proinflammatory program in (WAT) macrophages, and upregulation of both profibrotic and proinflammatory genes in the stromal vascular fraction isolated from WAT. PMID: 27729337
    8. Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD. PMID: 28403201
    9. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question. PMID: 26872670
    10. Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples. PMID: 26338966
    11. COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). PMID: 25635128
    12. Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. PMID: 26004199
    13. Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size PMID: 24719315
    14. The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance. PMID: 25449070
    15. This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression. PMID: 25337653
    16. In UCMD, 1 mutation was indentified in Chinese patients. PMID: 24801232
    17. Data indicate that endotrophin (COL6alpha3) levels are higher in diabetic patients. PMID: 24647224
    18. Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix PMID: 11785962
    19. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. PMID: 11992252
    20. The C-terminal Kunitz-type domain from the alpha3 chain of human type VI collagen (C5), a single amino-acid residue chain with three disulfide bridges, was refined at 0.9 A resolution in a monoclinic form PMID: 12077460
    21. These results suggest that different alpha3(VI) chain isoforms, containing also domains of the N10-N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. PMID: 15965965
    22. the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation PMID: 16613849
    23. Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors. PMID: 17918257
    24. in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain PMID: 19837927

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  • 相關疾病:
    Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Dystonia 27 (DYT27)
  • 亞細胞定位:
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族:
    Type VI collagen family
  • 數據庫鏈接:

    HGNC: 2213

    OMIM: 120250

    KEGG: hsa:1293

    STRING: 9606.ENSP00000295550

    UniGene: Hs.233240



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