Free for academic non-profit institutions. Other users need a Commercial license

Aliases for G6PC Gene

Aliases for G6PC Gene

  • Glucose-6-Phosphatase, Catalytic Subunit 2 3
  • G6PT 3 4 6
  • Glucose-6-Phosphatase Alpha 3 4
  • G6Pase-Alpha 3 4
  • EC 3.1.3.9 4 63
  • G-6-Pase 3 4
  • G6Pase 3 4
  • Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) 2
  • Glycogen Storage Disease Type I 2
  • Glucose-6-Phosphatase 3
  • Von Gierke Disease 2
  • G6PC1 3
  • GSD1a 3
  • GSD1 3

External Ids for G6PC Gene

Previous HGNC Symbols for G6PC Gene

  • G6PT

Previous GeneCards Identifiers for G6PC Gene

  • GC17M040566
  • GC17P043214
  • GC17P040961
  • GC17P041425
  • GC17P038306
  • GC17P041052
  • GC17P036817

Summaries for G6PC Gene

Entrez Gene Summary for G6PC Gene

  • Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]

GeneCards Summary for G6PC Gene

G6PC (Glucose-6-Phosphatase, Catalytic Subunit) is a Protein Coding gene. Diseases associated with G6PC include glycogen storage disease ia and glycogen storage disease ib. Among its related pathways are PI3K-Akt signaling pathway and Metabolism. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucose-6-phosphatase activity. An important paralog of this gene is G6PC3.

UniProtKB/Swiss-Prot for G6PC Gene

  • Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels

Gene Wiki entry for G6PC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for G6PC Gene

Genomics for G6PC Gene

Regulatory Elements for G6PC Gene

Genomic Location for G6PC Gene

Start:
42,900,797 bp from pter
End:
42,914,433 bp from pter
Size:
13,637 bases
Orientation:
Plus strand

Genomic View for G6PC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for G6PC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC Gene

Proteins for G6PC Gene

  • Protein details for G6PC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35575-G6PC_HUMAN
    Recommended name:
    Glucose-6-phosphatase
    Protein Accession:
    P35575
    Secondary Accessions:
    • A1L4C0
    • B4E1C3
    • K7EL82

    Protein attributes for G6PC Gene

    Size:
    357 amino acids
    Molecular mass:
    40484 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG64735.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for G6PC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PC Gene

Proteomics data for G6PC Gene at MOPED

Post-translational modifications for G6PC Gene

  • Glycosylation at Asn96
  • Modification sites at PhosphoSitePlus

Other Protein References for G6PC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for G6PC Gene

Protein Domains for G6PC Gene

Suggested Antigen Peptide Sequences for G6PC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35575

UniProtKB/Swiss-Prot:

G6PC_HUMAN :
  • P35575
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC: view

No data available for Gene Families for G6PC Gene

Function for G6PC Gene

Molecular function for G6PC Gene

GENATLAS Biochemistry: glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate
UniProtKB/Swiss-Prot Function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels

Enzyme Numbers (IUBMB) for G6PC Gene

Gene Ontology (GO) - Molecular Function for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004346 glucose-6-phosphatase activity IDA 10318794
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
GO:0042301 phosphate ion binding IMP 12093795
genes like me logo Genes that share ontologies with G6PC: view
genes like me logo Genes that share phenotypes with G6PC: view

Animal Models for G6PC Gene

MGI Knock Outs for G6PC:

miRNA for G6PC Gene

miRTarBase miRNAs that target G6PC

No data available for Transcription Factor Targeting and HOMER Transcription for G6PC Gene

Localization for G6PC Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for G6PC Gene COMPARTMENTS Subcellular localization image for G6PC gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2
golgi apparatus 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 10318794
GO:0030176 integral component of endoplasmic reticulum membrane TAS 10318794
genes like me logo Genes that share ontologies with G6PC: view

Pathways for G6PC Gene

genes like me logo Genes that share pathways with G6PC: view

UniProtKB/Swiss-Prot P35575-G6PC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis

Gene Ontology (GO) - Biological Process for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process TAS 8211187
GO:0005980 glycogen catabolic process IEA --
GO:0006094 gluconeogenesis IMP 8211187
GO:0006641 triglyceride metabolic process IEA --
genes like me logo Genes that share ontologies with G6PC: view

Compounds for G6PC Gene

(5) HMDB Compounds for G6PC Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-D-Glucose
  • Hexopyranose
492-62-6
D-Glucose
  • (+)-Glucose
50-99-7
Glucose 6-phosphate
  • D(+)-Glucopyranose 6-phosphate
56-73-5
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(79) Novoseek inferred chemical compound relationships for G6PC Gene

Compound -log(P) Hits PubMed IDs
glucose 6-phosphate 89 122
glycogen 87.9 118
phosphoenolpyruvate 81.3 48
glucose 74.2 204
2-deoxy-d-glucose 6-phosphate 70 1
genes like me logo Genes that share compounds with G6PC: view

Transcripts for G6PC Gene

Unigene Clusters for G6PC Gene

Glucose-6-phosphatase, catalytic subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC Gene

No ASD Table

Relevant External Links for G6PC Gene

GeneLoc Exon Structure for
G6PC
ECgene alternative splicing isoforms for
G6PC

Expression for G6PC Gene

mRNA expression in normal human tissues for G6PC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PC Gene

This gene is overexpressed in Liver (47.6) and Kidney - Cortex (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for G6PC Gene

SOURCE GeneReport for Unigene cluster for G6PC Gene Hs.212293

genes like me logo Genes that share expressions with G6PC: view

No data available for mRNA Expression by UniProt/SwissProt for G6PC Gene

Orthologs for G6PC Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia G6PC 35
  • 98.26 (n)
  • 97.96 (a)
G6PC 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia G6PC 35
  • 88.89 (n)
  • 92.72 (a)
G6PC 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia G6PC 35
  • 89.54 (n)
  • 91.32 (a)
G6PC 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia G6pc 35
  • 84.87 (n)
  • 88.52 (a)
G6pc 16
G6pc 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia G6pc 35
  • 84.31 (n)
  • 86.83 (a)
chicken
(Gallus gallus)
Aves LOC100857298 35
  • 71.52 (n)
  • 70.59 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pc2 35
  • 69.19 (n)
  • 70.03 (a)
zebrafish
(Danio rerio)
Actinopterygii g6pca.1 36
  • 54 (a)
OneToMany
g6pca.2 35
  • 66.57 (n)
  • 64.12 (a)
g6pca.2 36
  • 64 (a)
OneToMany
g6pcb 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15400 36
  • 19 (a)
OneToMany
Species with no ortholog for G6PC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for G6PC Gene

ENSEMBL:
Gene Tree for G6PC (if available)
TreeFam:
Gene Tree for G6PC (if available)

Paralogs for G6PC Gene

Paralogs for G6PC Gene

Selected SIMAP similar genes for G6PC Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with G6PC: view

Variants for G6PC Gene

Sequence variations from dbSNP and Humsavar for G6PC Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs161620 -- 42,912,720(-) TGGTA(G/T)GGTGG utr-variant-3-prime
rs161621 -- 42,910,251(-) GTTTT(G/T)TTAAG intron-variant
rs161622 -- 42,909,472(-) TAGGG(A/G)GAGAA intron-variant
rs161623 -- 42,909,245(-) AGAAA(A/T)CAGCC intron-variant
rs161624 -- 42,908,849(-) gctca(C/T)gcctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for G6PC Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER Inversion 15654335
nsv483009 CNV Gain 15286789
nsv908258 CNV Loss 21882294
nsv457742 CNV Loss 19166990

Relevant External Links for G6PC Gene

HapMap Linkage Disequilibrium report
G6PC
Human Gene Mutation Database (HGMD)
G6PC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC Gene

Disorders for G6PC Gene

(1) OMIM Diseases for G6PC Gene (613742)

UniProtKB/Swiss-Prot

G6PC_HUMAN
  • Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269 PubMed:10070617, ECO:0000269 PubMed:10094563, ECO:0000269 PubMed:10447271, ECO:0000269 PubMed:10612834, ECO:0000269 PubMed:10738005, ECO:0000269 PubMed:10748407, ECO:0000269 PubMed:10874313, ECO:0000269 PubMed:10960498, ECO:0000269 PubMed:11058903, ECO:0000269 PubMed:11058910, ECO:0000269 PubMed:12373566, ECO:0000269 PubMed:15151508, ECO:0000269 PubMed:15316959, ECO:0000269 PubMed:15542400, ECO:0000269 PubMed:7573034, ECO:0000269 PubMed:7623438, ECO:0000269 PubMed:7655466, ECO:0000269 PubMed:8182131, ECO:0000269 PubMed:8733042, ECO:0000269 PubMed:9001800, ECO:0000269 PubMed:9332655, ECO:0000269 PubMed:9506659, ECO:0000269 PubMed:9700612, ECO:0000269 PubMed:9700613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(51) Novoseek inferred disease relationships for G6PC Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease 96.2 106
glycogen storage disease type i 95.4 33
glycogen storage disease type vi 80.7 1
lactic acidemia 77.1 4
fanconi-bickel syndrome 68.7 1

Relevant External Links for G6PC

GeneTests
G6PC
GeneReviews
G6PC
Genetic Association Database (GAD)
G6PC
Human Genome Epidemiology (HuGE) Navigator
G6PC
genes like me logo Genes that share disorders with G6PC: view

Publications for G6PC Gene

  1. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PMID: 15316959) Ekstein J. … Risch N. (Am. J. Med. Genet. A 2004) 3 4 23 48
  2. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (PMID: 8211187) Lei K.-J. … Chou J.Y. (Science 1993) 3 4 23
  3. 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. (PMID: 7623438) Parvari R. … Bashan N. (J. Inherit. Metab. Dis. 1995) 3 4 23
  4. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PMID: 7573034) Lei K.-J. … Chou J.Y. (Am. J. Hum. Genet. 1995) 3 4 23
  5. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (PMID: 8182131) Lei K.J. … Chou J.Y. (J. Clin. Invest. 1994) 3 4 23

Products for G6PC Gene

Sources for G6PC Gene

Back to Top

Content