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    G6PC glucose-6-phosphatase catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 2538, updated on 6-Dec-2016
    Official Symbol
    G6PCprovided by HGNC
    Official Full Name
    glucose-6-phosphatase catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4056
    See related
    Ensembl:ENSG00000131482 MIM:613742; Vega:OTTHUMG00000180657
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G6PT; GSD1; G6PC1; GSD1a; G6Pase
    Summary
    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]
    Orthologs
    Location:
    17q21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (42900797..42914433)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41052814..41066450)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene amine oxidase, copper containing 4, pseudogene Neighboring gene long intergenic non-protein coding RNA 671 Neighboring gene RNA, U6 small nuclear 287, pseudogene Neighboring gene RNA, Ro-associated Y4 pseudogene 2 Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene alanyl-tRNA synthetase domain containing 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • AMPK signaling pathway, organism-specific biosystem (from KEGG)
      AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • AMPK signaling pathway, conserved biosystem (from KEGG)
      AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
      Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
      Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
      Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
      Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • DNA Damage Response (only ATM dependent), organism-specific biosystem (from WikiPathways)
      DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
      FoxO family signaling, organism-specific biosystem
      FoxO family signaling
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Galactose metabolism, organism-specific biosystem (from KEGG)
      Galactose metabolism, organism-specific biosystem
      Galactose metabolism
    • Galactose metabolism, conserved biosystem (from KEGG)
      Galactose metabolism, conserved biosystem
      Galactose metabolism
    • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
      Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • Glucagon signaling pathway, conserved biosystem (from KEGG)
      Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • Glucose transport, organism-specific biosystem (from REACTOME)
      Glucose transport, organism-specific biosystemCells take up glucose by facilitated diffusion, via glucose transporters (GLUTs) associated with the plasma membrane, a reversible reaction (Joost and Thorens 2001). Four tissue-specific GLUT isoform...
    • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
      Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
    • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
      Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
    • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
      Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
    • Hexose transport, organism-specific biosystem (from REACTOME)
      Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
    • Insulin resistance, organism-specific biosystem (from KEGG)
      Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
    • Insulin signaling pathway, organism-specific biosystem (from KEGG)
      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
      Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
      Starch and sucrose metabolism, organism-specific biosystem
      Starch and sucrose metabolism
    • Starch and sucrose metabolism, conserved biosystem (from KEGG)
      Starch and sucrose metabolism, conserved biosystem
      Starch and sucrose metabolism
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163350

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose-6-phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    glucose-6-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphate ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphotransferase activity, alcohol group as acceptor IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    gluconeogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose transport TAS
    Traceable Author Statement
    more info
     
    glucose-6-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
     
    glycogen catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycogen metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylated carbohydrate dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    response to food IEA
    Inferred from Electronic Annotation
    more info
     
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    urate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    glucose-6-phosphatase
    Names
    G-6-Pase
    G6Pase-alpha
    glucose-6-phosphatase alpha
    NP_000142.1
    NP_000142.2
    NP_001257326.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011808.1 RefSeqGene

      Range
      5000..18636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_147

    mRNA and Protein(s)

    1. NM_000151.3NP_000142.2  glucose-6-phosphatase isoform 1

      See identical proteins and their annotated locations for NP_000142.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC016889, AK303771, AW614228, U01120
      Consensus CDS
      CCDS11446.1
      UniProtKB/Swiss-Prot
      P35575
      Related
      ENSP00000253801, OTTHUMP00000264915, ENST00000253801, OTTHUMT00000452451
      Conserved Domains (2) summary
      COG0671
      Location:39192
      PgpB; Membrane-associated phospholipid phosphatase [Lipid transport and metabolism]
      cd03381
      Location:42280
      PAP2_glucose_6_phosphatase; PAP2_like proteins, glucose-6-phosphatase subfamily. Glucose-6-phosphatase converts glucose-6-phosphate into free glucose and is active in the lumen of the endoplasmic reticulum, where it is bound to the membrane. The generation of free glucose is an ...
    2. NM_001270397.1NP_001257326.1  glucose-6-phosphatase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC016889, AK303771, AW614228, BC130478
      Consensus CDS
      CCDS59291.1
      UniProtKB/Swiss-Prot
      P35575
      Related
      ENSP00000465958, OTTHUMP00000264914, ENST00000592383, OTTHUMT00000452450
      Conserved Domains (1) summary
      cl00474
      Location:42114
      PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      42900797..42914433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      41288425..41302053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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