Recombinant Human Glycosyltransferase-like protein LARGE1 (LARGE)

in vitro E.coli expression system

中文名稱：

人LARGE1重組蛋白
貨號：

CSB-CF012749HU
規(guī)格：
來源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

基因名：

LARGE1
Uniprot No.：

O95461
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：

full length protein
表達(dá)區(qū)域：

1-756
氨基酸序列

MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
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(biāo)簽：

N-terminal 10xHis-tagged
產(chǎn)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, pH 8.0
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(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：

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(xiàng)：

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(chǎn)品評價

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