Property Summary

NCBI Gene PubMed Count 69
PubMed Score 870.25
PubTator Score 317.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
nephrosclerosis -2.265 3.3e-02
atypical teratoid / rhabdoid tumor 1.200 2.3e-03
glioblastoma 1.300 1.5e-03
medulloblastoma, large-cell 2.000 6.7e-06
adult high grade glioma 1.500 8.9e-05
group 4 medulloblastoma 1.100 1.1e-02
ovarian cancer 1.300 8.8e-10

Protein-protein Interaction (1)

Gene RIF (33)

PMID Text
26556724 ApoA-IV colocalizes with NR4A1, which suppresses G6Pase and PEPCK gene expression at the transcriptional level, reducing hepatic glucose output and lowering blood glucose.
25001192 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.
24980439 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.
24355556 The spectrum of mutations in the G6PC gene.
23755305 LSD1 regulates transcription activation of two gluconeogenic genes, FBP1 and G6Pase.
23465595 Lipopolysaccharide and monophosphoryl lipid A also up-regulated G6PC and PCK1 transcript abundance in a TLR4-dependent manner.
21983240 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.
21733854 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
21328436 data mitigate against G6PD deficiency contributing to stroke risk in individuals with sickle cell anemia.
20509832 Observational study of genetic testing. (HuGE Navigator)
20004937 Observational study of gene-disease association. (HuGE Navigator)
19832742 description of G6PC mutations in Thailand patients with glycogen storage disease type Ia
19587243 Increased transcriptional expression of PEPCK1 and G6Pc does not account for increased gluconeogenesis and fasting hyperglycemia in patients with type 2 diabetes mellitus.
19082990 Identification of a risk conferring single nucleotide polymorphism in G6PC for type 2 diabetes in a Chinese population.
18847435 EGF also inhibits hepatic G6Pase gene expression in vivo
18805788 HNF-4 and Foxo1 are required for reciprocal transcriptional regulation of glucokinase and glucose-6-phosphatase genes in response to fasting and feeding
18660489 Observational study of gene-disease association. (HuGE Navigator)
18449899 summary of the reported G6PC mutations and review what mutagenesis studies have revealed about the structure and function of the G6PC catalytic unit [review]
18008183 analysis of mutation spectrum of glycogen storage disease type Ia in Tunisia
17354259 G6PC1 hepatic activity was abnormally low in 98 SIDS (preterm, n=13; term, n=85), and non-SIDS preterm infants (n=35) compared to term non-SIDS infants (n=29) and adults (n=9)
16893891 HNF4alpha, CREM, HNF1alpha, and C/EBPalpha have roles in transcriptional regulation of the glucose-6-phosphatase gene by cAMP/vasoactive intestinal peptide in the intestine
15918042 Observational study of gene-disease association. (HuGE Navigator)
15696478 Findings suggest that the screening for 727G-->T and R83H mutations of glucose-6-phosphatase gene in conjunction with the 1176 polymorphism linkage analysis is a good method for gene and prenatal diagnosis of glycogen storage disease Ia.
15316959 Observational study of genotype prevalence. (HuGE Navigator)
14759518 G6pc expression was functionally silenced by adenovirus-mediated delivery of short hairpin RNA.
14718531 Glc-6-Pase-alpha and Glc-6-Pase-beta share a similar active site structure, topology, and mechanism of action
13129915 a novel, widely expressed G6Pase-related protein, PAP2.8/UGRP, renamed here G6Pase-beta couples with the G6P transporter to form an active G6Pase complex that can hydrolyze G6P to glucose
12560945 Five mutants lack microsomal G6P uptake activity and one retains residual activity, suggesting that in G6PT the signature motif is a functional element required for microsomal glucose-6-phosphate transport.
12556524 maximum repression of basal glucose-6-phosphatase catalytic subunit (G6Pase) gene transcription by insulin requires two distinct promoter regions, designated that together form an insulin response unit.
12444104 The amino-terminal domain of G6PT is required for optimal glucose-6-phosphate uptake activity.
12373566 homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma
12093795 active site of G6Pase: role of HIS176 as the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis
11739393 we report the results of structure and function studies of the 48 missense mutations and the DeltaF327 codon deletion mutation, grouped as active site, helical, and nonhelical mutations

AA Sequence

MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDW      1 - 70
LNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQG     71 - 140
KIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYF    141 - 210
LITFFLFSFAIGFYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMY    211 - 280
RESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLG    281 - 350
QPHKKSL                                                                   351 - 357
//

Text Mined References (83)

PMID Year Title
26556724 2015 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.
25001192 2014 Glucose-6-phosphatase is a key metabolic regulator of glioblastoma invasion.
24980439 2015 Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
24355556 2014 A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
23755305 2013 Suppression of gluconeogenic gene expression by LSD1-mediated histone demethylation.
23465595 2013 Toll-like receptor 4 signaling is required for induction of gluconeogenic gene expression by palmitate in human hepatic carcinoma cells.
21983240 2012 New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase.
21733854 2011 DNA damage induces down-regulation of PEPCK and G6P gene expression through degradation of PGC-1alpha.
21328436 2011 G6PD deficiency and stroke in the CSSCD.
21109326 2011 Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas.
20509832 2010 Rapid detection of glycogen storage disease type Ia by DNA microarray.
20004937 2010 Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.
19832742 2010 G6PC mutations in two patients with glycogen storage disease type Ia in Thailand.
19587243 2009 Fasting hyperglycemia is not associated with increased expression of PEPCK or G6Pc in patients with Type 2 Diabetes.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19082990 2009 A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population.
18847435 2009 Insulin and epidermal growth factor suppress basal glucose-6-phosphatase catalytic subunit gene transcription through overlapping but distinct mechanisms.
18805788 2008 A combination of HNF-4 and Foxo1 is required for reciprocal transcriptional regulation of glucokinase and glucose-6-phosphatase genes in response to fasting and feeding.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18449899 2008 Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
18008183 2007 Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
17354259 2007 Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16893891 2006 Transcriptional regulation of the glucose-6-phosphatase gene by cAMP/vasoactive intestinal peptide in the intestine. Role of HNF4alpha, CREM, HNF1alpha, and C/EBPalpha.
16892178 2006 Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15918042 2005 Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly.
15696478 2005 [Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].
15661744 2005 Brain contains a functional glucose-6-phosphatase complex capable of endogenous glucose production.
15542400 2004 Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15316959 2004 Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
15151508 2004 Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
14759518 2004 Functional silencing of hepatic microsomal glucose-6-phosphatase gene expression in vivo by adenovirus-mediated delivery of short hairpin RNA.
14718531 2004 Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
13129915 2003 A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia.
12560945 2003 The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.
12556524 2003 The three insulin response sequences in the glucose-6-phosphatase catalytic subunit gene promoter are functionally distinct.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12444104 2002 Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
12373566 2002 Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
12189168 2002 Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
12093795 2002 The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.
11672436 2001 Antagonistic effects of phorbol esters on insulin regulation of insulin-like growth factor-binding protein-1 (IGFBP-1) but not glucose-6-phosphatase gene expression.
11058910 2000 A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
11058903 2000 Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
10960498 2000 Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
10874313 2000 Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
10748407 2000 Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
10738005 2000 Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
10612834 2000 Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
10452914 1999 Glucose production by the human placenta in vivo.
10447271 1999 Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
10318794 1999 Transmembrane topology of human glucose 6-phosphate transporter.
10094563 1999 Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
10070617 1999 Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
10024523 1999 Identification of a cAMP response element within the glucose- 6-phosphatase hydrolytic subunit gene promoter which is involved in the transcriptional regulation by cAMP and glucocorticoids in H4IIE hepatoma cells.
10023055 1999 Structure of the gene mutated in glycogen storage disease type Ib.
9705299 1998 Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.
9700613 1998 A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
9700612 1998 Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.
9675154 1998 Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
9506659 1998 A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
9332655 1997 Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
9001800 1996 Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.
8733042 1996 Mutation analysis in 24 French patients with glycogen storage disease type 1a.
8640227 1996 Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.
8612793 1996 Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells.
8211187 1993 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
8182131 1994 Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
7774924 1995 Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.
7668282 1995 Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.
7655466 1995 Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.
7623438 1995 Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
7573034 1995 Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
2986020 1985 Evidence for the cerebral uptake in vivo from two pools of glucose and the role of glucose-6-phosphatase in removing excess substrate from brain.
2547044 1989 The microsomal glucose-6-phosphatase enzyme of human gall-bladder.
2172641 1990 Diagnosis of a novel glycogen storage disease: type 1aSP.
212064 1978 A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.
175958 1976 The fine structural localization of testicular phosphatases in man: the control testis.