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  4. Recombinant Human Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), partial

Recombinant Human Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), partial

  • 中文名称：
    人POMGNT1重组蛋白
  • 货号：
    CSB-YP855513HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人POMGNT1重组蛋白
  • 货号：
    CSB-EP855513HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人POMGNT1重组蛋白
  • 货号：
    CSB-EP855513HU-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POMGNT1重组蛋白
  • 货号：
    CSB-BP855513HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人POMGNT1重组蛋白
  • 货号：
    CSB-MP855513HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    POMGNT1
  • Uniprot No.：
  • 别名：
    2-N-acetylglucosaminyltransferase 1; 2-N-acetylglucosaminyltransferase I.2; GnT I.2; GnTI.2; MEB; MGAT 1.2; MGAT1.2; O linked mannose beta1 2 N acetylglucosaminyltransferase; PMGT1_HUMAN; POMGNT 1; POMGnT1; Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1; Protein O linked mannose beta1 2 N acetylglucosaminyltransferase; Protein O-linked-mannose beta-1; UDP GlcNAc; UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2; UDP-GlcNAc:alpha-D-mannoside beta-1
  • 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

靶点详情

  • 功能：
    Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
  • 基因功能参考文献：
    1. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM PMID: 29048655
    2. The s have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. PMID: 27391550
    3. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity. PMID: 26908613
    4. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. PMID: 26783077
    5. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans PMID: 26328495
    6. study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation PMID: 24731844
    7. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1). PMID: 24733390
    8. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease. PMID: 23689641
    9. POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression. PMID: 22554691
    10. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. PMID: 22419172
    11. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease. PMID: 21727005
    12. these results show that the amino acid sequence affects POMGnT1 activity. PMID: 21684258
    13. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions. PMID: 21361872
    14. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis PMID: 20816175
    15. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients PMID: 12467726
    16. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity. PMID: 12788071
    17. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease. PMID: 15236414
    18. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease PMID: 15466003
    19. Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. PMID: 16857188
    20. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. PMID: 17869517
    21. report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene; a 6-year-old sibling has a severe form of muscle-eye-brain (MEB) disease; the same mutation resulted in a less severe form of MEB in the older sibling PMID: 17881266
    22. data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 PMID: 17906881

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  • 相关疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3); Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3); Retinitis pigmentosa 76 (RP76)
  • 亚细胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Glycosyltransferase 13 family
  • 组织特异性：
    Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
  • 数据库链接：

    HGNC: 19139

    OMIM: 253280

    KEGG: hsa:55624

    STRING: 9606.ENSP00000361052

    UniGene: Hs.525134