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POFUT1 Antibody

  • 货号：
    CSB-PA018296GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9H488
  • 基因名：
  • 别名：
    FUT 12 antibody; FUT12 antibody; GDP fucose protein O fucosyltransferase 1 antibody; GDP-fucose protein O-fucosyltransferase 1 antibody; O Fuc T antibody; o fucosyltransferase protein antibody; O FucT 1 antibody; O FucT antibody; O FucT1 antibody; O FUT antibody; O-FucT-1 antibody; OFUT 1 antibody; OFUT antibody; OFUT1 antibody; OFUT1_HUMAN antibody; Peptide O fucosyltransferase1 antibody; Peptide-O-fucosyltransferase 1 antibody; Pofut 1 antibody; POFUT1 antibody; Protein O fucosyltransferase1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human POFUT1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC,IF
  • 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：
    Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).
  • 基因功能参考文献：
    1. the reported Dowling-Degos mutations of POFUT1, except for M262T, fail to rescue Notch1 signaling efficiently in the CRISPR-engineered POFUT1-/- background; these studies identify POFUT1 as a potential target for cancers driven by Notch1 mutations and provide a structural roadmap for its inhibition PMID: 28334865
    2. The results suggest that this N-glycan of POFUT1 is not required for its proper enzymatic function, and that the p.Ser162Leu mutation of POFUT1 likely causes global developmental delay, microcephaly with vascular and cardiac defects. PMID: 29452367
    3. Our findings suggested that overexpression of Pofut1 and activated Notch1 signaling may be associated with a poor prognosis in breast cancer. PMID: 28709865
    4. POFUT1 gene expression in gastric cancer PMID: 28040433
    5. POFUT1, POGLUT1 and ADAM10 are processing enzymes that are involved in different steps of Notch receptor activation in the epidermis[10]; the roles of these unique enzymes in a single pathway may explain both the overlapping and distinct clinical features of DDD and RAK patients PMID: 26486618
    6. High expression of POFUT1 correlates with aggressive clinicopathological characteristics and poor prognosis of hepatocellular carcinoma patients. PMID: 27003260
    7. The upregulation of poFUT1 by LIF facilitated trophoblast cell migration and invasion through activating the PI3K/Akt signaling pathway. PMID: 25165882
    8. Silencing of Pofut1 expression exerted antiproliferative and antiadhesive effects on hepatocytes. PMID: 25107841
    9. Only a novel 1-bp deletion (c.246+5delG) in POFUT1 was found in a Chinese family with Dowling-Degos disease (DDD). No other novel mutation or this deletion was detected in POFUT1 in a second DDD family and a sporadic DDD case by Sanger Sequencing. PMID: 25157627
    10. Identification of six pathogenic POFUT1 mutations in Dowling-Degos disease patients of different ethnic origin. PMID: 25229252
    11. POFUT1 expression can contribute to cancer progression and that POFUT1 may serve as a diagnostic marker and a therapeutic target for OSCCs. PMID: 24064921
    12. The protein product of POFUT1 plays a significant and conserved role in melanin synthesis and transport. PMID: 23684010
    13. fucosyltransferases, O-FucT-1 is a soluble protein that localizes to the endoplasmic reticulum and recognizes properly folded epidermal growth factor-like repeats. PMID: 15653671
    14. Pofut1 and O-fucose have roles in mammalian Notch signaling PMID: 18347015

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  • 相关疾病：
    Dowling-Degos disease 2 (DDD2)
  • 亚细胞定位：
    Endoplasmic reticulum.
  • 蛋白家族：
    Glycosyltransferase 65 family
  • 组织特异性：
    Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
  • 数据库链接：

    HGNC: 14988

    OMIM: 607491

    KEGG: hsa:23509

    STRING: 9606.ENSP00000364902

    UniGene: Hs.472409