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  4. Recombinant Human Glycosyltransferase-like protein LARGE1 (LARGE), partial

Recombinant Human Glycosyltransferase-like protein LARGE1 (LARGE), partial

  • 中文名稱：
    人LARGE1重組蛋白
  • 貨號(hào)：
    CSB-YP012749HU1
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人LARGE1重組蛋白
  • 貨號(hào)：
    CSB-EP012749HU1-B
  • 規(guī)格：
  • 來源：
    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LARGE1重組蛋白
  • 貨號(hào)：
    CSB-BP012749HU1
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人LARGE1重組蛋白
  • 貨號(hào)：
    CSB-MP012749HU1
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    LARGE1
  • Uniprot No.：
  • 別名：
    LARGE1; KIAA0609; LARGE; LARGE xylosyl- and glucuronyltransferase 1; Acetylglucosaminyltransferase-like 1A; Glycosyltransferase-like protein [Includes: Xylosyltransferase LARGE; Beta-1,3-glucuronyltransferase LARGE; ]
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    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)品評價(jià)

靶點(diǎn)詳情

  • 功能：
    Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide.
  • 基因功能參考文獻(xiàn)：
    1. Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma. PMID: 27636103
    2. B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. PMID: 25279697
    3. A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide. PMID: 25279699
    4. results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter. PMID: 24629698
    5. A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies, whereas the mutation p.Glu509Lys in this study may confer a milder phenotype. PMID: 24709677
    6. This study suggests LARGE as the first known modifier of plasma antithrombin. PMID: 23705025
    7. results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function PMID: 24132234
    8. LARGE could act as a bifunctional glycosyltransferase, with xylosyltransferase and glucuronyltransferase activities, which produced repeating units of [-3-xylose-alpha1,3-glucuronic acid-beta1-]; allowed alpha-DG to bind laminin-G domain-containing ECM ligands PMID: 22223806
    9. This study demonistreated that Intragenic rearrangements in LARGE gene in muscle-eye-brain disease. PMID: 21727005
    10. the ligand-binding activity of alpha-dystroglycan is conferred primarily by LARGE modification at Thr-317 and -319, within the highly conserved first 18 amino acids of the mucin-like domain PMID: 21987822
    11. LARGE has a role in inducing alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle PMID: 21203384
    12. This report extends our knowledge of the clinical phenotype associated with LARGE, and is the second family in which disease results from a large-scale gene rearrangement. PMID: 21248746
    13. LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE. PMID: 15752776
    14. LARGE repression is responsible for the defects in dystroglycan-mediated cell adhesion that are observed in epithelium-derived cancer cells and point to a defect of dystroglycan glycosylation as a factor in cancer progression PMID: 19244252

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  • 相關(guān)疾病：
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6); Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)
  • 亞細(xì)胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Glycosyltransferase 49 family; Glycosyltransferase 8 family
  • 組織特異性：
    Ubiquitous. Highest expression in heart, brain and skeletal muscle.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 6511

    OMIM: 603590

    KEGG: hsa:9215

    STRING: 9606.ENSP00000347088

    UniGene: Hs.474667



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