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  4. PUF60 Antibody

PUF60 Antibody

  • 中文名稱：
    PUF60兔多克隆抗體
  • 貨號：
    CSB-PA019080GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    PUF60
  • 別名：
    60 kDa poly(U)-binding-splicing factor antibody; FBP-interacting repressor antibody; FIR antibody; FLJ31379 antibody; FUSE-binding protein-interacting repressor antibody; Poly U binding splicing factor 60KDa antibody; Poly(U) binding splicing factor 60 antibody; Poly(U)-binding-splicing factor PUF60 antibody; poly-U binding splicing factor PUF60 antibody; PUF60 antibody; PUF60_HUMAN antibody; pyrimidine tract binding splicing factor antibody; Ro ribonucleoprotein-binding protein 1 antibody; Ro-binding protein 1 antibody; RoBP1 antibody; RoBPI antibody; siah binding protein 1 antibody; Siah-binding protein 1 antibody; Siah-BP1 antibody; SIAHBP1 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human PUF60
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity Purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA,WB,IHC
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能：
    DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.
  • 基因功能參考文獻：
    1. Anti-PUF60 antibodies were nonspecific for myositis, since they could be detected in other rheumatic diseases. PMID: 29541951
    2. Authors report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. A two base pair deletion was identified in the PUF60 gene. Result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. PMID: 28990276
    3. The present report describes a de novo missense mutation in PUF60, detected in a boy with multiple congenital anomalies. PMID: 28471317
    4. PUF60 auto-antibodies are detected in the sera of early-stage colon cancer patients and level decreases after surgery. PMID: 27756887
    5. These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion PMID: 27804958
    6. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies. PMID: 28327570
    7. Mutations in PUF60 gene is associated with idiopathic hypereosinophilic syndrome. PMID: 26497854
    8. Concomitant over expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer cells. PMID: 26177862
    9. Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma. PMID: 24824848
    10. High FBP-interacting repressor expression is associated with hepatocellular carcinoma. PMID: 24811221
    11. The interaction between SAP155 and FIR/FIRDeltaexon2 not only integrates cell-cycle progression and c-Myc transcription by modifying P27 and P89 expression. PMID: 23594796
    12. Haploinsufficiency of each of SCRIB or PUF60 contribute uniquely to specific endophenotypes (e.g., coloboma, heart defects), and binary interaction potentially exacerbates other aspects of the clinical pathology of individuals with 8q24.3 deletion. PMID: 24140112
    13. Circulating FIR variant mRNA in the peripheral blood of cancer patients were significantly overexpressed compared to that in healthy volunteers. PMID: 23113893
    14. Data indicate that altered FIR and c-myc pre-mRNA splicing, in addition to c-Myc expression by augmented FIR/FIRDeltaexon2-SAP155 complex, potentially contribute to colorectal cancer development. PMID: 22496461
    15. FIR is monomeric in solution but dimerizes upon DNA binding; DNA-induced dimerization is mediated by FIR's RNA recognition motif. PMID: 20420426
    16. study identified PUF60 as a factor that promotes splicing of an intron with a weak 3' splice-site; demonstrated that PUF60 can functionally substitute for U2AF(65)in vitro, but splicing is strongly stimulated by the presence of both proteins PMID: 17579712
    17. Results describe the roles of the FarUpStream Element (FUSE), FUSE Binding Protein (FBP), FBP Interacting Repressor (FIR), and TFIIH in the regulation of c-myc expression. PMID: 16628215

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  • 相關疾病：
    Verheij syndrome (VRJS)
  • 亞細胞定位：
    Nucleus. Note=Colocalizes partially with TROVE2.
  • 蛋白家族：
    RRM half pint family
  • 組織特異性：
    Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, ske
  • 數據庫鏈接：

    HGNC: 17042

    OMIM: 604819

    KEGG: hsa:22827

    STRING: 9606.ENSP00000434359

    UniGene: Hs.521924



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