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    POFUT1 protein O-fucosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 23509, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development.

    Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development.
    Matsumoto K, Luther KB, Haltiwanger RS.,

    07/22/2024
    POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression.

    POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression.
    Monno M, Ogiri M, Seishima R, Suzuki Y, Hattori K, Matsui S, Shigeta K, Okabayashi K, Kitagawa Y.

    03/20/2024
    Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma.

    Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma.
    Barlak N, Kusdemir G, Gumus R, Gundogdu B, Sahin MH, Tatar A, Ittmann M, Karatas OF.

    02/16/2024
    Preliminary study on the mechanism of POFUT1 in colorectal cancer.

    Preliminary study on the mechanism of POFUT1 in colorectal cancer.
    Zhang N, Long L, Li G, Wu X, Peng S, Jiang Y, Xiang A, Mao X, Huang H, Yang Z.

    07/19/2023
    Circular RNA circPOFUT1 enhances malignant phenotypes and autophagy-associated chemoresistance via sequestrating miR-488-3p to activate the PLAG1-ATG12 axis in gastric cancer.

    Circular RNA circPOFUT1 enhances malignant phenotypes and autophagy-associated chemoresistance via sequestrating miR-488-3p to activate the PLAG1-ATG12 axis in gastric cancer.
    Luo M, Deng X, Chen Z, Hu Y., Free PMC Article

    01/14/2023
    POFUT1 acts as a tumor promoter in glioblastoma by enhancing the activation of Notch signaling.

    POFUT1 acts as a tumor promoter in glioblastoma by enhancing the activation of Notch signaling.
    Li Q, Wang J, Ma X, Wang M, Zhou L.

    03/5/2022
    poFUT1 promotes uterine angiogenesis and vascular remodeling via enhancing the O-fucosylation on uPA.

    poFUT1 promotes uterine angiogenesis and vascular remodeling via enhancing the O-fucosylation on uPA.
    Zhang D, Yang Y, Liang C, Liu J, Wang H, Liu S, Yan Q., Free PMC Article

    08/29/2020
    PLAGL2 and POFUT1 were common and upregulated in tumor samples in colorectal cancer (CRC). Survival analysis of PLAGL2 and POFUT1 expression revealed differences between proximal and distal CRC. PLAGL2 and POFUT1, which have the highest correlation with tumor location, may serve as biomarkers and therapeutic targets for the precise diagnosis and treatment of CRC in the future.

    Weighted gene coexpression analysis indicates that PLAGL2 and POFUT1 are related to the differential features of proximal and distal colorectal cancer.
    Lv Y, Xie B, Bai B, Shan L, Zheng W, Huang X, Zhu H., Free PMC Article

    04/11/2020
    High POFUT1 expression was also associated with Notch signaling enrichment and with decreased goblet cells differentiation. In-depth molecular characterization of colorectal adenomas revealed POFUT1 and Notch signaling as potential drivers of tumor progression.

    Molecular characterization of colorectal adenomas reveals POFUT1 as a candidate driver of tumor progression.
    Komor MA, de Wit M, van den Berg J, Martens de Kemp SR, Delis-van Diemen PM, Bolijn AS, Tijssen M, Schelfhorst T, Piersma SR, Chiasserini D, Sanders J, Rausch C, Hoogstrate Y, Stubbs AP, de Jong M, Jenster G, Carvalho B, Meijer GA, Jimenez CR, Fijneman RJA, NGS-ProToCol Consortium., Free PMC Article

    02/22/2020
    Our team identified for the first time a bidirectional promoter pair oncogene, PLAGL2-POFUT1, in colorectal cancer (CRC).

    PLAGL2 and POFUT1 are regulated by an evolutionarily conserved bidirectional promoter and are collaboratively involved in colorectal cancer by maintaining stemness.
    Li D, Lin C, Li N, Du Y, Yang C, Bai Y, Feng Z, Su C, Wu R, Song S, Yan P, Chen M, Jain A, Huang L, Zhang Y, Li X., Free PMC Article

    01/11/2020
    we revealed that poFUT1 was increased in the secretory phase compared to the proliferative phase. Meanwhile, poFUT1 was expressed at lower levels in the uterine endometrium of miscarriage patients than that in normal early pregnancies. Moreover, we provides novel evidence showing that poFUT1 controls the O-fucosylation and activation ofNotch1.

    poFUT1 promotes endometrial decidualization by enhancing the O-fucosylation of Notch1.
    Yang Y, Zhang D, Qin H, Liu S, Yan Q., Free PMC Article

    12/14/2019
    POFUT1 is a tumor activating gene during colorectal cancer development, which positively regulates colorectal cancer tumor progression through activating Notch1.

    POFUT1 promotes colorectal cancer development through the activation of Notch1 signaling.
    Du Y, Li D, Li N, Su C, Yang C, Lin C, Chen M, Wu R, Li X, Hu G., Free PMC Article

    12/14/2019
    heterozygous nonsense POFUT1 mutations c.210G>A (p.Trp70*) and c.871C>T (p.Gln291*) were identified in Probands 1 and 2, respectively. The mutations segregated perfectly with the phenotypes in both families.

    Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.
    Zhong W, Liu J, Wang H, Dou X, Yu B, Lin Z, Yang Y.

    07/27/2019
    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

    Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.
    McMillan BJ, Zimmerman B, Egan ED, Lofgren M, Xu X, Hesser A, Blacklow SC., Free PMC Article

    12/22/2018
    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.

    Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
    Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS., Free PMC Article

    11/24/2018
    Our findings suggested that overexpression of Pofut1 and activated Notch1 signaling may be associated with a poor prognosis in breast cancer.

    Overexpression of Pofut1 and activated Notch1 may be associated with poor prognosis in breast cancer.
    Wan G, Tian L, Yu Y, Li F, Wang X, Li C, Deng S, Yu X, Cai X, Zuo Z, Cao F.

    08/26/2017
    POFUT1 gene expression in gastric cancer

    Bioinformatics insight into glycosyltransferase gene expression in gastric cancer: POFUT1 is a potential biomarker.
    Dong S, Wang Z, Huang B, Zhang J, Ge Y, Fan Q, Wang Z.

    06/3/2017
    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

    Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease.
    Li CR, Brooks YS, Jia WX, Wang DG, Xiao XM, Li Q, Li M, Mao QX, Wang B.

    04/22/2017
    High expression of POFUT1 correlates with aggressive clinicopathological characteristics and poor prognosis of hepatocellular carcinoma patients.

    Overexpression of protein O-fucosyltransferase 1 accelerates hepatocellular carcinoma progression via the Notch signaling pathway.
    Ma L, Dong P, Liu L, Gao Q, Duan M, Zhang S, Chen S, Xue R, Wang X.

    09/3/2016
    The upregulation of poFUT1 by LIF facilitated trophoblast cell migration and invasion through activating the PI3K/Akt signaling pathway.

    LIF upregulates poFUT1 expression and promotes trophoblast cell migration and invasion at the fetal-maternal interface.
    Liu S, Wang J, Qin HM, Yan XM, Yang XS, Liu C, Yan Q., Free PMC Article

    09/12/2015
    Silencing of Pofut1 expression exerted antiproliferative and antiadhesive effects on hepatocytes.

    Downregulated protein O-fucosyl transferase 1 (Pofut1) expression exerts antiproliferative and antiadhesive effects on hepatocytes by inhibiting Notch signalling.
    Annani-Akollor ME, Wang S, Fan J, Liu L, Padhiar AA, Zhang J.

    06/27/2015
    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.

    Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.
    Chen M, Li Y, Liu H, Fu X, Yu Y, Yu G, Wang C, Bao F, Liany H, Wang Z, Shi Z, Zhang D, Zhou G, Liu J, Zhang F., Free PMC Article

    05/16/2015
    Identification of six pathogenic POFUT1 mutations in Dowling-Degos disease patients of different ethnic origin.

    Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
    Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC.

    05/9/2015
    POFUT1 expression can contribute to cancer progression and that POFUT1 may serve as a diagnostic marker and a therapeutic target for OSCCs.

    Protein O-fucosyltransferase 1: a potential diagnostic marker and therapeutic target for human oral cancer.
    Yokota S, Ogawara K, Kimura R, Shimizu F, Baba T, Minakawa Y, Higo M, Kasamatsu A, Endo-Sakamoto Y, Shiiba M, Tanzawa H, Uzawa K.

    07/19/2014
    The protein product of POFUT1 plays a significant and conserved role in melanin synthesis and transport.

    Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
    Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z., Free PMC Article

    01/11/2014
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