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PQBP1 Antibody

  • 货号：
    CSB-PA018594LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA018594LA01HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) PQBP1 Polyclonal antibody
  • Uniprot No.：
    O60828
  • 基因名：
    PQBP1
  • 别名：
    38 kDa nuclear protein containing a WW domain antibody; Mental retardation; X linked 55 antibody; MRX55 antibody; MRXS3 antibody; MRXS8 antibody; Npw38 antibody; Nuclear protein containing WW domain 38 kD antibody; OTTHUMP00000025808 antibody; Polyglutamine binding protein 1 antibody; Polyglutamine tract binding protein 1 antibody; Polyglutamine tract-binding protein 1 antibody; Polyglutamine-binding protein 1 antibody; PQBP 1 antibody; PQBP-1 antibody; PQBP1 antibody; PQBP1_HUMAN antibody; RENS1 antibody; SHS antibody; Sutherland Haan X linked mental retardation syndrome antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Polyglutamine-binding protein 1 protein (2-265AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，PQBP1 Antibody (CSB-PA018594LA01HU)，的标记方式是Non-conjugated。对于PQBP1 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-PA018594LB01HU PQBP1 Antibody, HRP conjugated ELISA
    FITC CSB-PA018594LC01HU PQBP1 Antibody, FITC conjugated
    Biotin CSB-PA018594LD01HU PQBP1 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：
    Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development. Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species. May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules. Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol. Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production.
  • 基因功能参考文献：
    1. Results from a study on gene expression variability markers in early-stage human embryos shows that PQBP1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
    2. The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. The mutant cannot bind to its natural ligand WBP11, which regulates mRNA processing PMID: 27456546
    3. Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 c.459_462delAGAG and c.463_464dupAG mutations, and suggest that therapeutic strategies to restore FMRP function may be beneficial for those patients PMID: 28073926
    4. results suggest that the interaction between PQBP1 and WBP11 negatively modulates the U5-15kD binding of PQBP1 by an allosteric mechanism PMID: 27314904
    5. Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3-dependent innate response. PMID: 26046437
    6. Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. PMID: 24781215
    7. The results of this study addressed that the relationship between gene dose and phenotype relationship of dPQBP1 and investigated the mechanism responsible for the lifespan shortening' PMID: 22901698
    8. These data demonstrate a role for PQBP1 in the modulation of stress granules. PMID: 21933836
    9. Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly. PMID: 21315190
    10. Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability. PMID: 21267006
    11. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. PMID: 21204222
    12. mutations in PQBP1 caused variable loss of cell adhesion from impaired vesicle trafficking disrupts the neuroepithelial lining or neuronal migration and underlies periventricular heterotopia formation PMID: 20886605
    13. frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD PMID: 20307692
    14. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing PMID: 20410308
    15. An evaluation of X-linked mental retardation (XLMR) pathology of PQBP1 mutations demonstrated nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. PMID: 19847789
    16. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation PMID: 14634649
    17. mutations cause Renpenning syndrome and X-linked mental retardation with microcephaly PMID: 15024694
    18. Mutations in the polyglutamine-binding protein 1 gene is associated with X-linked mental retardation PMID: 15355434
    19. dysfunction of PQBP-1 induces mitochondrial stress, a key molecular pathomechanism that is shared among human neurodegenerative disorders PMID: 16104847
    20. Pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs; the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function. PMID: 16493439
    21. Data suggest that the SIPP1-PQBP1-induced nuclear inclusions are distinct from the protein aggregates that are associated with polyglutamine diseases and represent dynamic nucleoplasmic heteropolymers of SIPP1 and PQBP1. PMID: 18599155
    22. Results suggest that pqbp-1.1 is involved in lipid metabolism of intestinal cells, and that dysfunction of lipid metabolism might underlie lean body, one of the most frequent symptoms associating with PQBP1-linked mental retrdation patients. PMID: 19119319

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  • 相关疾病：
    Renpenning syndrome 1 (RENS1)
  • 亚细胞定位：
    Nucleus. Nucleus speckle. Cytoplasmic granule.
  • 组织特异性：
    Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.
  • 数据库链接：

    HGNC: 9330

    OMIM: 300463

    KEGG: hsa:10084

    STRING: 9606.ENSP00000218224

    UniGene: Hs.534384