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USB1 Antibody

  • 货号：
    CSB-PA22889A0Rb
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA22889A0Rb diluted at 1:100 and staining in paraffin-embedded human melanoma performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • IHC image of CSB-PA22889A0Rb diluted at 1:100 and staining in paraffin-embedded human brain tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) USB1 Polyclonal antibody
  • Uniprot No.：
    Q9BQ65
  • 基因名：
    USB1
  • 别名：
    C16orf57 antibody; Chromosome 16 open reading frame 57 antibody; CP057_HUMAN antibody; FLJ13154 antibody; UPF0406 protein C16orf57 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human U6 snRNA phosphodiesterase protein (1-90AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，USB1 Antibody (CSB-PA22889A0Rb)，的标记方式是Non-conjugated。对于USB1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA22889B0Rb USB1 Antibody, HRP conjugated ELISA
    FITC CSB-PA22889C0Rb USB1 Antibody, FITC conjugated
    Biotin CSB-PA22889D0Rb USB1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.
  • 基因功能参考文献：
    1. this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families PMID: 28353165
    2. Data indicate the enzymatic activities and structures of yeast and human U6 RNA processing enzyme Usb1. PMID: 28887445
    3. marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID: 27612988
    4. USB1 genes from myelodysplastic and myelodysplastic/myeloproliferative neoplasms and AML had 3 unreported variants, 2 in USB1 5'UTR (c.-83G>T and c.-66A>G), 1 in IVS3 (c.450-68dupT) and 1 (<1%) in IVS4 (c.587+21A>G/rs200924980) were detected. PMID: 26306619
    5. the link between Mpn1 and snRNA stability PMID: 26213367
    6. Mpn1 associates with the NineTeen Complex, a multiprotein complex that is essential for the maintenance of spliceosome integrity and efficient splicing. [Review] PMID: 23684637
    7. Data indicate that USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream. PMID: 23190533
    8. Recombinant hMpn1 is a 3'-to-5' RNA exonuclease that removes uridines from U6 3' ends, generating terminal 2',3' cyclic phosphates in vitro. PMID: 23022480
    9. characterization of 6 Poikiloderma with Neutropenia patients and mutational repertoire of the gene; detected 2 novel C16orf57 mutations, c.232C>T and c.265 2T>G and the reported c.179delC, c.531delA and c.693 1G>T mutations; bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function PMID: 22269211
    10. We report three cases of poikiloderma with neutropenia whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis. PMID: 21967010
    11. Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo PMID: 22899009
    12. Mutations of the C16orf57 gene permit the unification of a distinct group of genetic polikilodermal dermatoses that can be diagnosed as congenital dyskeratosis, Rothmund-Thomson syndrome, poikiloderma-neutropenia. PMID: 21497268
    13. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. PMID: 21271650
    14. findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS. PMID: 20817924
    15. report on detailed clinical features of three siblings affected with Clericuzio poikiloderma with neutropenia syndrome, all carrying the same homozygous c.504-2A>Cmutation at the acceptor splice site of intron 4 of C16orf57 gene PMID: 20734427
    16. c16orf57 has a role in clericuzio-type poikiloderma with neutropenia PMID: 20004881

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  • 相关疾病：
    Poikiloderma with neutropenia (PN)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    2H phosphoesterase superfamily, USB1 family
  • 数据库链接：

    HGNC: 25792

    OMIM: 604173

    KEGG: hsa:79650

    STRING: 9606.ENSP00000219281

    UniGene: Hs.408702