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Aliases for G6PC Gene

Aliases for G6PC Gene

  • Glucose-6-Phosphatase Catalytic Subunit 2 3
  • Glucose-6-Phosphatase, Catalytic Subunit 3 5
  • 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
  • G6PT 3 4
  • Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) 2
  • Glycogen Storage Disease Type I 2
  • 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 due to glucose-6-phosphatase deficiency type ia. Among its related pathways are Adipocytokine signaling pathway and AMPK signaling pathway. 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

Enhancers for G6PC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around G6PC on UCSC Golden Path with GeneCards custom track

Genomic Location for G6PC Gene

Chromosome:
17
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

Genes around G6PC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 96
  • Modification sites at PhosphoSitePlus

Other Protein References for G6PC Gene

Antibody Products

Domains & Families for G6PC Gene

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

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

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

Human Phenotype Ontology for G6PC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC Gene

MGI Knock Outs for G6PC:

Animal Model Products

miRNA for G6PC Gene

miRTarBase miRNAs that target G6PC

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 4
cytosol 2
mitochondrion 2
nucleus 2
peroxisome 2
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane TAS 10318794
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with G6PC: view

Pathways & Interactions for G6PC Gene

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

UniProtKB/Swiss-Prot P35575-G6PC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for G6PC Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006094 gluconeogenesis IMP 8211187
GO:0006641 triglyceride metabolic process IEA --
GO:0006796 phosphate-containing compound metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with G6PC: view

Drugs & Compounds for G6PC Gene

(42) Drugs for G6PC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucose 6-phosphate Experimental Pharma 0

(42) Additional Compounds for G6PC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
D-Glucose
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001
50-99-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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 (x47.6) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for G6PC Gene

This gene is overexpressed in Liver (45.5) and Gallbladder (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with G6PC: view

Protein tissue co-expression partners for G6PC Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 98 (a)
OneToOne
G6PC 35
  • 98.26 (n)
  • 97.96 (a)
mouse
(Mus musculus)
Mammalia G6pc 36
  • 89 (a)
OneToOne
G6pc 16
G6pc 35
  • 84.87 (n)
  • 88.52 (a)
dog
(Canis familiaris)
Mammalia G6PC 36
  • 92 (a)
OneToOne
G6PC 35
  • 89.54 (n)
  • 91.32 (a)
cow
(Bos Taurus)
Mammalia G6PC 36
  • 93 (a)
OneToOne
G6PC 35
  • 88.89 (n)
  • 92.72 (a)
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
  • 66 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pc2 35
  • 69.19 (n)
  • 70.03 (a)
zebrafish
(Danio rerio)
Actinopterygii g6pcb 36
  • 53 (a)
OneToMany
g6pca.2 36
  • 64 (a)
OneToMany
g6pca.1 36
  • 54 (a)
OneToMany
g6pca.2 35
  • 66.57 (n)
  • 64.12 (a)
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

(2) 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
VAR_005237 Glycogen storage disease 1A (GSD1A)
VAR_005238 Glycogen storage disease 1A (GSD1A)
rs1801175 Glycogen storage disease 1A (GSD1A) 42,903,947(+) GACAG(C/T)GTCCA reference, missense
rs1801176 Glycogen storage disease 1A (GSD1A) 42,903,948(+) ACAGC(A/G)TCCAT reference, missense
VAR_005241 Glycogen storage disease 1A (GSD1A)

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

Variation tolerance for G6PC Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.89% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(25) MalaCards diseases for G6PC Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ia
  • glycogen storage disease i
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
  • g6p deficiency type 1a
glycogen storage disease due to glucose-6-phosphatase deficiency
  • glycogen storage disease type i
glycogen storage disease ib
  • glucose-6-phosphate translocase deficiency
glycogen storage disease
  • glycogenoses
- elite association - COSMIC cancer census association via MalaCards
Search G6PC in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for G6PC

Genetic Association Database (GAD)
G6PC
Human Genome Epidemiology (HuGE) Navigator
G6PC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
G6PC
genes like me logo Genes that share disorders with G6PC: view

No data available for Genatlas for G6PC Gene

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 48 67
  2. Fasting hyperglycemia is not associated with increased expression of PEPCK or G6Pc in patients with Type 2 Diabetes. (PMID: 19587243) Samuel V.T. … Shulman G.I. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  3. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. (PMID: 18449899) Chou J.Y. … Mansfield B.C. (Hum. Mutat. 2008) 3 23
  4. Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. (PMID: 18008183) Barkaoui E. … Ben Dridi M.F. (J. Inherit. Metab. Dis. 2007) 3 23
  5. Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro. (PMID: 16892178) Baharvand H. … Farrokhi A. (Int. J. Dev. Biol. 2006) 3 23

Products for G6PC Gene

Sources for G6PC Gene

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