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  4. Recombinant Human N-acetylglucosamine-1-phosphotransferase subunit gamma (GNPTG)

Recombinant Human N-acetylglucosamine-1-phosphotransferase subunit gamma (GNPTG)

  • 中文名称：
    人GNPTG重组蛋白
  • 货号：
    CSB-YP890727HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人GNPTG重组蛋白
  • 货号：
    CSB-EP890727HU-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GNPTG重组蛋白
  • 货号：
    CSB-BP890727HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人GNPTG重组蛋白
  • 货号：
    CSB-MP890727HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    GNPTG
  • Uniprot No.：
  • 别名：
    GNPTG; C16orf27; GNPTAG; CAB56184; LP2537N-acetylglucosamine-1-phosphotransferase subunit gamma; GlcNAc-1-phosphotransferase subunit gamma; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    25-305
  • 氨基酸序列
    AKMKVV EEPNAFGVNN PFLPQASRLQ AKRDPSPVSG PVHLFRLSGK CFSLVESTYK YEFCPFHNVT QHEQTFRWNA YSGILGIWHE WEIANNTFTG MWMRDGDACR SRSRQSKVEL ACGKSNRLAH VSEPSTCVYA LTFETPLVCH PHALLVYPTL PEALQRQWDQ VEQDLADELI TPQGHEKLLR TLFEDAGYLK TPEENEPTQL EGGPDSLGFE TLENCRKAHK ELSKEIKRLK GLLTQHGIPY TRPTETSNLE HLGHETPRAK SPEQLRGDPG LRGSL
  • 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：
    Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.
  • 基因功能参考文献：
    1. Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis. PMID: 29170090
    2. Analysis of the missense mutations in the gamma subunit of GlcNAc-1-phosphotransferase reported in patients with mucolipidosis III gamma shows that three of the four variants, p.G106S, p.G126S and p.C142Y, caused misfolding of the gamma subunit, while one variant, p.T286M, was normal. The misfolded gamma subunits were retained in the endoplasmic reticulum and failed to rescue the lysosomal targeting of lysosomal acid g... PMID: 27038293
    3. we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype. PMID: 26935170
    4. persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis. PMID: 26130485
    5. findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified) PMID: 24316125
    6. two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma. PMID: 20951619
    7. results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 signaling PMID: 20034096
    8. identified mutations in GNPTG gene in subjects with stuttering PMID: 20147709
    9. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase PMID: 19955174
    10. The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment. PMID: 19370764
    11. novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes PMID: 19708128

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  • 相关疾病：
    Mucolipidosis type III complementation group C (MLIIIC)
  • 亚细胞定位：
    Secreted. Golgi apparatus.
  • 组织特异性：
    Widely expressed.
  • 数据库链接：

    HGNC: 23026

    OMIM: 252605

    KEGG: hsa:84572

    STRING: 9606.ENSP00000204679

    UniGene: Hs.241575