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    EXTL3 exostosin like glycosyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 2137, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    EXTL3 and NPC1 are mammalian host factors for Autographa californica multiple nucleopolyhedrovirus infection.

    EXTL3 and NPC1 are mammalian host factors for Autographa californica multiple nucleopolyhedrovirus infection.
    Huang Y, Mei H, Deng C, Wang W, Yuan C, Nie Y, Li JD, Liu J., Free PMC Article

    09/12/2024
    Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.

    Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.
    Marques C, Poças J, Gomes C, Faria-Ramos I, Reis CA, Vivès RR, Magalhães A., Free PMC Article

    12/17/2022
    Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.

    Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
    Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K.

    01/22/2022
    REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.

    REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.
    Zhang H, Corredor ALG, Messina-Pacheco J, Li Q, Zogopoulos G, Kaddour N, Wang Y, Shi BY, Gregorieff A, Liu JL, Gao ZH., Free PMC Article

    08/14/2021
    EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.

    EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.
    Aints A, Mölder S, Salumets A., Free PMC Article

    11/21/2020
    EXTL3 mutations are associated with spondylo-epi-metaphyseal dysplasia with immunodeficiency.

    Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Notarangelo LD., Free PMC Article

    03/9/2019
    Human lumenal N-glycosylated EXTL3 (EXTL3DeltaN) was cloned, expressed in human embryonic kidney cells, and purified. Various biophysical and biochemical approaches were then employed to elucidate the N-glycosylation sites and the function of their attached N-glycans.

    Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.
    Awad W, Kjellström S, Svensson Birkedal G, Mani K, Logan DT.

    05/26/2018
    EXTL3 missense mutation is associated with spondylo-epi-metaphyseal dysplasia.

    Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S., Free PMC Article

    05/19/2018
    EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development.

    EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
    Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD., Free PMC Article

    08/19/2017
    We show that biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis and thus lead to a recognizable syndrome characterized by variable expression of skeletal, neurological, and immunological abnormalities.

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
    Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW., Free PMC Article

    05/6/2017
    Recombinant EXTL2 showed weak ability to transfer N-acetylgalactosamine to heparan sulfate precursor molecules but also, that EXTL2 exhibited much stronger in vitro N-acetylglucosamine-transferase activity related to elongation of heparan sulfate chains.

    Reduced Expression of EXTL2, a Member of the Exostosin (EXT) Family of Glycosyltransferases, in Human Embryonic Kidney 293 Cells Results in Longer Heparan Sulfate Chains.
    Katta K, Imran T, Busse-Wicher M, Grønning M, Czajkowski S, Kusche-Gullberg M., Free PMC Article

    09/5/2015
    Regenerating islet-derived 1alpha (Reg-1alpha) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.

    Regenerating islet-derived 1α (Reg-1α) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
    Acquatella-Tran Van Ba I, Marchal S, François F, Silhol M, Lleres C, Michel B, Benyamin Y, Verdier JM, Trousse F, Marcilhac A., Free PMC Article

    04/21/2012
    Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL3 gene silencing.

    Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
    Kaidonis X, Liaw WC, Roberts AD, Ly M, Anson D, Byers S., Free PMC Article

    03/1/2010
    A missense mutation involving the exon 3 of the EXTL3 gene in the case of obstructing colon cancer is described in a 31-year-old patient affected by hereditary multiple exostoses.

    Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?
    Pata G, Nascimbeni R, Di Lorenzo D, Gervasi M, Villanacci V, Salerni B.

    01/21/2010
    HIP enhanced EXTL3 translocation from the membrane to the nucleus, in support of a model whereby EXTL3 mediates HIP signaling for islet neogenesis.

    Discovery of a human peptide sequence signaling islet neogenesis.
    Levetan CS, Upham LV, Deng S, Laury-Kleintop L, Kery V, Nolan R, Quinlan J, Torres C, El-Hajj RJ.

    01/21/2010
    We conclude that EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of HS expression in mucinous CRCs.

    EXTL3 promoter methylation down-regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers.
    Karibe T, Fukui H, Sekikawa A, Shiratori K, Fujimori T.

    01/21/2010
    These results suggest that EXTL3/EXTR1 is a cell surface Reg receptor that binds to Reg protein.

    Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor.
    Kobayashi S, Akiyama T, Nata K, Abe M, Tajima M, Shervani NJ, Unno M, Matsuno S, Sasaki H, Takasawa S, Okamoto H.

    09/30/2005
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