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    G6PC1 glucose-6-phosphatase catalytic subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2538, updated on 17-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The FOXO1/G6PC axis promotes gastric cancer progression and mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR signaling pathway.

    The FOXO1/G6PC axis promotes gastric cancer progression and mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR signaling pathway.
    Han A, Liu T, Du P, Wang M, Liu J, Chen L.

    03/15/2024
    Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population.

    Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population.
    Li X, Ploner A, Wang Y, Mak JKL, Lu Y, Magnusson PKE, Jylhävä J, Hägg S., Free PMC Article

    12/21/2023
    G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.

    G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.
    Hawes EM, Boortz KA, Oeser JK, O'Rourke ML, O'Brien RM.,

    10/30/2023
    G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo.

    G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo.
    Zhu K, Deng C, Du P, Liu T, Piao J, Piao Y, Yang M, Chen L., Free PMC Article

    04/2/2022
    Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.

    Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
    Arnaoutova I, Zhang L, Chen HD, Mansfield BC, Chou JY., Free PMC Article

    11/22/2021
    Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

    Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
    Kim YM, Choi JH, Lee BH, Kim GH, Kim KM, Yoo HW., Free PMC Article

    08/7/2021
    The results distinguished two ovarian cancer phenotypes, one with elevated HK activity and low G6Pase activity, and another with the opposite characteristics.

    Linked Hexokinase and Glucose-6-Phosphatase Activities Reflect Grade of Ovarian Malignancy.
    Olsen BB, Gjedde A, Vilstrup MH, Johnsen IBG, Neumann G, Torigian DA, Alavi A, Høilund-Carlsen PF.

    08/3/2019
    Five novel mutations, p.V99Cfs*3, p.G125R, IVS1-2A>T, IVS3+39G>A and IVS3+42G>A are reported for the first time to cause Glycogen storage disease type-1a among Indian ethnicity, suggesting separate ethnic founder effects for some mutations among Indian ethnicity. Functional characterization revealed that glucose-6-phosphatase activity was completely abrogated with the mutant proteins.

    Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.
    Karthi S, Manimaran P, Varalakshmi P, Ganesh R, Kapoor S, Goyal M, Ashokkumar B.

    05/18/2019
    The neutropenia in patients with G6PC3 or G6PT mutations is a metabolite-repair deficiency.

    Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
    Veiga-da-Cunha M, Chevalier N, Stephenne X, Defour JP, Paczia N, Ferster A, Achouri Y, Dewulf JP, Linster CL, Bommer GT, Van Schaftingen E., Free PMC Article

    03/30/2019
    Microarrays revealed that G6PC mRNA was upregulated following GDNF-mediated dopaminergic differentiation of SH-SY5Y cells. Array association analysis showed three downregulated microRNAs that could possibly influence G6PC translation. Although qRT-PCR results were not significant, they did support the microarray findings with regard to trend. Western blotting also confirmed increased G6PC protein expression following GDNF

    Glucose-6-phosphatase-α participates in dopaminergic differentiation.
    Chen J, Wang T, Zhou XY, Tang CX, Gao DS.

    05/19/2018
    3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk

    3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
    Karthi S, Rajeshwari M, Francis A, Saravanan M, Varalakshmi P, Houlden H, Thangaraj K, Ashokkumar B.

    03/17/2018
    crystal structures of the FoxO1 DNA binding domain in complex with the G6PC1 promoter

    Crystal structures reveal a new and novel FoxO1 binding site within the human glucose-6-phosphatase catalytic subunit 1 gene promoter.
    Singh P, Han EH, Endrizzi JA, O'Brien RM, Chi YI., Free PMC Article

    12/9/2017
    Notch1 expression is reduced and glucose-6-phosphatase and perilipin-5 (G6PC/PLIN5) are upregulated in liver biopsies from nonalcoholic steatohepatitis (NASH) and nonalcoholic fatty liver disease (NAFLD) patients.

    Hepatic Notch1 deletion predisposes to diabetes and steatosis via glucose-6-phosphatase and perilipin-5 upregulation.
    Bernsmeier C, Dill MT, Provenzano A, Makowska Z, Krol I, Muscogiuri G, Semela D, Tornillo L, Marra F, Heim MH, Duong FH.

    06/24/2017
    Mutation analysis of the G6PC gene revealed that GSD Ia accounted for 11% in GSD patients with involvement of liver. Three patients were homozygous for R83C mutation. In addition, a novel stop mutation, Y85X, was identified in a patient with the typical features of GSD Ia.

    Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
    Mahmoud SK, Khorrami A, Rafeey M, Ghergherehchi R, Sima MD.

    06/24/2017
    Post-translational regulation of the glucose-6-phosphatase complex by cyclic AMP is a crucial determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter.

    Post-Translational Regulation of the Glucose-6-Phosphatase Complex by Cyclic Adenosine Monophosphate Is a Crucial Determinant of Endogenous Glucose Production and Is Controlled by the Glucose-6-Phosphate Transporter.
    Soty M, Chilloux J, Delalande F, Zitoun C, Bertile F, Mithieux G, Gautier-Stein A.

    12/17/2016
    ApoA-IV colocalizes with NR4A1, which suppresses G6Pase and PEPCK gene expression at the transcriptional level, reducing hepatic glucose output and lowering blood glucose.

    Interaction of ApoA-IV with NR4A1 and NR1D1 Represses G6Pase and PEPCK Transcription: Nuclear Receptor-Mediated Downregulation of Hepatic Gluconeogenesis in Mice and a Human Hepatocyte Cell Line.
    Li X, Xu M, Wang F, Ji Y, DavidsoN WS, Li Z, Tso P., Free PMC Article

    06/28/2016
    By direct DNA sequencing, three novel G6PC variations were identified which expanded the G6PC mutation spectrum, and provided conclusive genetic evidences for the definitive diagnosis of the Chinese patients.

    Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
    Zheng BX, Lin Q, Li M, Jin Y., Free PMC Article

    10/10/2015
    This study is the first to demonstrate a functional relationship between the critical gluconeogenic and glycogenolytic enzyme G6PC with the metabolic adaptations during glioblastoma invasion.

    Glucose-6-phosphatase is a key metabolic regulator of glioblastoma invasion.
    Abbadi S, Rodarte JJ, Abutaleb A, Lavell E, Smith CL, Ruff W, Schiller J, Olivi A, Levchenko A, Guerrero-Cazares H, Quinones-Hinojosa A., Free PMC Article

    07/25/2015
    The spectrum of mutations in the G6PC gene.

    A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
    Gu LL, Li XH, Han Y, Zhang DH, Gong QM, Zhang XX.

    05/3/2014
    Lipopolysaccharide and monophosphoryl lipid A also up-regulated G6PC and PCK1 transcript abundance in a TLR4-dependent manner.

    Toll-like receptor 4 signaling is required for induction of gluconeogenic gene expression by palmitate in human hepatic carcinoma cells.
    Mamedova LK, Yuan K, Laudick AN, Fleming SD, Mashek DG, Bradford BJ., Free PMC Article

    02/8/2014
    LSD1 regulates transcription activation of two gluconeogenic genes, FBP1 and G6Pase.

    Suppression of gluconeogenic gene expression by LSD1-mediated histone demethylation.
    Pan D, Mao C, Wang YX., Free PMC Article

    01/18/2014
    Both GSD-1a and G6PT strongly colocalised in perinuclear membranes. showed that GSD1 mutations did neither alter the G6PC or G6PT chimera localisation, nor the interaction between G6PT termini.

    New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase.
    Soty M, Chilloux J, Casteras S, Grichine A, Mithieux G, Gautier-Stein A.

    06/9/2012
    results reveal a novel link between glucose metabolism and the DNA damage signaling pathway and suggest a possible role for PEPCK and G6P in the DNA damage response

    DNA damage induces down-regulation of PEPCK and G6P gene expression through degradation of PGC-1alpha.
    Kim HJ, Jee HJ, Yun J.

    12/3/2011
    data mitigate against G6PD deficiency contributing to stroke risk in individuals with sickle cell anemia.

    G6PD deficiency and stroke in the CSSCD.
    Miller ST, Milton J, Steinberg MH.

    05/7/2011
    Observational study of genetic testing. (HuGE Navigator)

    Rapid detection of glycogen storage disease type Ia by DNA microarray.
    Xu S, Qin S, Gu X, Qiu W, Ye J, Han L, He L.

    06/30/2010
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