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    GFPT1 glutamine--fructose-6-phosphate transaminase 1 [ Homo sapiens (human) ]

    Gene ID: 2673, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Overexpression of Fatty Acid Synthase Upregulates Glutamine-Fructose-6-Phosphate Transaminase 1 and O-Linked N-Acetylglucosamine Transferase to Increase O-GlcNAc Protein Glycosylation and Promote Colorectal Cancer Growth.

    Overexpression of Fatty Acid Synthase Upregulates Glutamine-Fructose-6-Phosphate Transaminase 1 and O-Linked N-Acetylglucosamine Transferase to Increase O-GlcNAc Protein Glycosylation and Promote Colorectal Cancer Growth.
    Drury J, Geisen ME, Tessmann JW, Rychahou PG, Kelson CO, He D, Wang C, Evers BM, Zaytseva YY., Free PMC Article

    05/31/2024
    GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.

    GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.
    Li D, Guan M, Cao X, Zha ZQ, Zhang P, Xiang H, Zhou Y, Peng Q, Xu Z, Lu L, Liu G.

    12/3/2022
    Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

    Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
    Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X, Hong D., Free PMC Article

    07/23/2022
    GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.

    GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
    Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A, Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S, Deschauer M.

    07/9/2022
    Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.

    Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.
    Chen W, Saxton B, Tessema M, Belinsky SA., Free PMC Article

    01/1/2022
    Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.

    Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.
    Nabeebaccus AA, Verma S, Zoccarato A, Emanuelli G, Santos CX, Streckfuss-Bömeke K, Shah AM., Free PMC Article

    12/25/2021
    High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.

    High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.
    Gong Y, Qian Y, Luo G, Liu Y, Wang R, Deng S, Cheng H, Jin K, Ni Q, Yu X, Wu W, Liu C., Free PMC Article

    07/31/2021
    LncRNA ELFN1-AS1 promotes esophageal cancer progression by up-regulating GFPT1 via sponging miR-183-3p.

    LncRNA ELFN1-AS1 promotes esophageal cancer progression by up-regulating GFPT1 via sponging miR-183-3p.
    Zhang C, Lian H, Xie L, Yin N, Cui Y.

    06/26/2021
    GFAT1/HBP/O-GlcNAcylation Axis Regulates beta-Catenin Activity to Promote Pancreatic Cancer Aggressiveness.

    GFAT1/HBP/O-GlcNAcylation Axis Regulates β-Catenin Activity to Promote Pancreatic Cancer Aggressiveness.
    Jia C, Li H, Fu D, Lan Y., Free PMC Article

    12/19/2020
    The longevity-associated G451E of GFAT1 variant shows drastically reduced sensitivity to UDP-GlcNAc inhibition.

    Loss of GFAT-1 feedback regulation activates the hexosamine pathway that modulates protein homeostasis.
    Ruegenberg S, Horn M, Pichlo C, Allmeroth K, Baumann U, Denzel MS., Free PMC Article

    05/23/2020
    GFPT1 variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in GFPT1-related disease and suggest that mitochondrial dysfunction could contribute to this disorder.

    Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
    Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C.

    11/30/2019
    These results suggest that 2-deoxy-d-glucose reduces N-glycosylation of proteins following the increase of phosphorylation of GFAT1 and results in the inhibition of cell growth mediated by endoplasmic reticulum stress in pancreatic cancer cells.

    2-Deoxy-d-glucose increases GFAT1 phosphorylation resulting in endoplasmic reticulum-related apoptosis via disruption of protein N-glycosylation in pancreatic cancer cells.
    Ishino K, Kudo M, Peng WX, Kure S, Kawahara K, Teduka K, Kawamoto Y, Kitamura T, Fujii T, Yamamoto T, Wada R, Naito Z.

    05/18/2019
    MTOR2/C-MYC/GFAT1 axis is responsible for the modulation on the crosstalk between glycolysis and glutaminolysis in glioblastoma cells.

    Mammalian Target of Rapamycin 2 (MTOR2) and C-MYC Modulate Glucosamine-6-Phosphate Synthesis in Glioblastoma (GBM) Cells Through Glutamine: Fructose-6-Phosphate Aminotransferase 1 (GFAT1).
    Liu B, Huang ZB, Chen X, See YX, Chen ZK, Yao HK.

    05/11/2019
    The Gfpt1tm1d/tm1d model allows for further investigation of pathophysiological consequences on genes and pathways downstream of GFPT1 likely to involve misglycosylation or hypoglycosylation of neuromuscular junction and muscle targets.

    GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
    Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H., Free PMC Article

    03/16/2019
    We also showed that IL-8 stimulation of colon and lung cancer cells-induced glucose uptake and expressions of glucose transporter 3 (GLUT3) and glucosamine fructose-6-phosphate aminotransferase (GFAT), a regulator of glucose flux to the hexosamine biosynthetic pathway, resulting in enhancement of protein O-GlcNAcylation

    IL-8-induced O-GlcNAc modification via GLUT3 and GFAT regulates cancer stem cell-like properties in colon and lung cancer cells.
    Shimizu M, Tanaka N.

    03/2/2019
    high GFAT1 expression is identified as an independent predictor of adverse clinical outcome in our small number of pancreatic cancer patients, and the practical prognostic nomogram model may help clinicians in decision making and the design of clinical studies.

    High expression of GFAT1 predicts poor prognosis in patients with pancreatic cancer.
    Yang C, Peng P, Li L, Shao M, Zhao J, Wang L, Duan F, Song S, Wu H, Zhang J, Zhao R, Jia D, Zhang M, Wu W, Li C, Rong Y, Zhang L, Ruan Y, Gu J., Free PMC Article

    06/16/2018
    study reports nine new mutations of GFPT1 in limb-girdle congenital myasthenic syndrome (LG-CMS)

    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
    Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

    04/21/2018
    Findings indicate that GFAT1 functions as a novel suppressor of EMT and tumor metastasis in gastric cancer.

    Loss of GFAT1 promotes epithelial-to-mesenchymal transition and predicts unfavorable prognosis in gastric cancer.
    Duan F, Jia D, Zhao J, Wu W, Min L, Song S, Wu H, Wang L, Wang H, Ruan Y, Gu J., Free PMC Article

    03/3/2018
    GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration.

    Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.
    Oikari S, Makkonen K, Deen AJ, Tyni I, Kärnä R, Tammi RH, Tammi MI.

    01/20/2018
    High GFAT1 expression is associated with hepatocellular carcinoma.

    High expression of GFAT1 predicts unfavorable prognosis in patients with hepatocellular carcinoma.
    Li L, Shao M, Peng P, Yang C, Song S, Duan F, Jia D, Zhang M, Zhao J, Zhao R, Wu W, Wang L, Li C, Wu H, Zhang J, Wu X, Ruan Y, Gu J., Free PMC Article

    10/7/2017
    mTORC2 responds to glutamine catabolite levels to modulate the hexosamine biosynthesis enzyme GFAT1, and is essential for proper expression and nuclear accumulation of the GFAT1 transcriptional regulator, Xbp1s.

    mTORC2 Responds to Glutamine Catabolite Levels to Modulate the Hexosamine Biosynthesis Enzyme GFAT1.
    Moloughney JG, Kim PK, Vega-Cotto NM, Wu CC, Zhang S, Adlam M, Lynch T, Chou PC, Rabinowitz JD, Werlen G, Jacinto E., Free PMC Article

    09/9/2017
    GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis.

    GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis.
    Zibrova D, Vandermoere F, Göransson O, Peggie M, Mariño KV, Knierim A, Spengler K, Weigert C, Viollet B, Morrice NA, Sakamoto K, Heller R.

    06/24/2017
    The AMPK-GFAT1 signaling axis serves as an important communication point between two nutrient-sensitive signaling pathways and is likely to play a significant role in controlling physiological processes in many other tissues.

    The sweet side of AMPK signaling: regulation of GFAT1.
    Scott JW, Oakhill JS.

    06/24/2017
    Increased GFPT1 expression is associated with triple-negative breast cancer.

    Altered glycometabolism affects both clinical features and prognosis of triple-negative and neoadjuvant chemotherapy-treated breast cancer.
    Dong T, Kang X, Liu Z, Zhao S, Ma W, Xuan Q, Liu H, Wang Z, Zhang Q.

    02/18/2017
    This study demonstrated that Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

    Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
    Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.

    12/17/2016
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