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Recombinant Human N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (GNPTAB), partial

  • 中文名稱:
    人GNPTAB重組蛋白
  • 貨號:
    CSB-CF666221HU
  • 規格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產品詳情

  • 基因名:
    GNPTAB
  • Uniprot No.:
  • 別名:
    GNPTAB; GNPTA; KIAA1208; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; GlcNAc-1-phosphotransferase subunits alpha/beta; Stealth protein GNPTAB; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    partial
  • 表達區域:
    929-1256
  • 氨基酸序列
    DTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDMFPEEFDKTSFHKVRHS EDMQFAFSYFYYLMSAVQPLNISQVFDEVDTDQSGVLSDREIRTLATRIHELPLSLQDLT GLEHMLINCSKMLPADITQLNNIPPTQESYYDPNLPPVTKSLVTNCKPVTDKIHKAYKDK NKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDIRKNPRKFVCLNDNIDHNHKDAQTVKAVL RDFYESMFPIPSQFELPREYRNRFLHMHELQEWRAYRDKLKFWTHCVLATLIMFTIFSFF AEQLIALKRKIFPRRRIHKEASPNRIRV
    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 10xHis-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, 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:
    Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.
  • 基因功能參考文獻:
    1. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease. PMID: 30204966
    2. 14 variations were found in GNPTAB, GNPTG and NAGPA genes. PMID: 29289611
    3. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II PMID: 28918368
    4. GNPTAB mutations are associated with mucolipidosis II. PMID: 27180337
    5. Mutations of the GNPTAB gene is associated with mucolipidosis type III. PMID: 27710913
    6. we described five individuals from a large consanguineous Turkish family with MLIIIalpha/beta and identified a novel homozygous missense genetic variant in the alpha subunit of GNPTAB gene in five patients PMID: 26749367
    7. Persistent stuttering is associated with mutations in GNPTAB that are generally not found in mucolipidosis . PMID: 26130485
    8. These findings serve to explain how GlcNAc-1-phosphotransferase recognizes a large number of proteins that lack a common structural motif. PMID: 26833567
    9. GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization. PMID: 26385638
    10. SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. PMID: 25643770
    11. A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain. PMID: 24045841
    12. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene. PMID: 25107912
    13. both missense and frameshift mutations are associated with a severe clinical phenotype causing retention of the protein in the endoplasmic reticulum and failure to cleave the alpha/beta-subunit precursor protein are associated with a severe clinical phenotype PMID: 24375680
    14. Missense mutations impair retention of the catalytically active enzyme in the Golgi complex resulting in mistargeting of the mutant phosphotransferases to lysosomes, where they are degraded, or to the cell surface and release into the medium. PMID: 24550498
    15. study located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X) in two patients with mucolipidosis II alpha/beta PMID: 23773965
    16. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II. PMID: 23733939
    17. The mutation c.2808A>G creates a new splice site in exon 14 of GNPATB gene. PMID: 23566849
    18. data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein complex II machinery PMID: 23192343
    19. To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review) PMID: 22884963
    20. Patients carrying the c.3503_3504delTC deletion in the N-acetylglucosamine-1-phosphotransferase gene are presented with a common haplotype, which implies a common origin of this mutation in the Mediterranian Region. PMID: 20880125
    21. By using linkage and mutational analyses, there have identified that the family members contain compound heterozygous mutations of p.R364X and c.2715+1G>A in the GNPTAB gene. PMID: 21549105
    22. Glu1200Lys mutation in GNPTAB gene is founder mutation associated with persistent stuttering PMID: 20944643
    23. proteolytic processing of the gamma-subunit represents a novel mechanism to regulate GlcNAc-1-phosphotransferase activity and the subsequent sorting of lysosomal enzymes PMID: 20489197
    24. identified 3 mutations in GNPTAB gene in subjects with stuttering PMID: 20147709
    25. Fifty-one pathogenic changes in GNPTAB are presented, including 42 novel mutations causing mucolipidoses II and III alpha/beta. PMID: 19617216
    26. Mutations within the GNPTAB gene are associated with Mucolipidoses. PMID: 19634183
    27. The GNPTAB gene was analyzed in 25 Mucolipidosis II and 15 ML III Japanese patients. PMID: 19197337
    28. GNPTAB alpha and beta subunits are encoded by a single cDNA PMID: 16120602
    29. results provide evidence that GNPTA encodes a subunit of GlcNAc-1-phosphotransferase defective in individuals with mucolipidosis II PMID: 16200072
    30. 15 different mutations in GNPTAB from 18 pedigrees with Mucolipidosis II or mucolipidosis IIIA were found. PMID: 16465621
    31. The results of this study confirm that Mucolipidosis (ML) II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the GNPTA mutations PMID: 16630736
    32. A single mutation (c.3503_3504delTC) is the allele causing Mucolipidosis II in the Saguenay-Lac-Saint-Jean population, and its high carrier rate is most likely explained by a founder effect. PMID: 18190596
    33. The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients. PMID: 19659762

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  • 相關疾病:
    Mucolipidosis type II (MLII); Mucolipidosis type III complementation group A (MLIIIA)
  • 亞細胞定位:
    [N-acetylglucosamine-1-phosphotransferase subunit alpha]: Golgi apparatus membrane; Single-pass type I membrane protein.; [N-acetylglucosamine-1-phosphotransferase subunit beta]: Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族:
    Stealth family
  • 組織特異性:
    Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
  • 數據庫鏈接:

    HGNC: 29670

    OMIM: 252500

    KEGG: hsa:79158

    STRING: 9606.ENSP00000299314

    UniGene: Hs.46850



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