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

Gene ID: 2538, updated on 8-Feb-2015
Official Symbol
G6PCprovided by HGNC
Official Full Name
glucose-6-phosphatase, catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:4056
See related
HPRD:01983; MIM:613742
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
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
See G6PC in MapViewer
Location:
17q21
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 membrane primary amine oxidase-like Neighboring gene amine oxidase, copper containing 4, pseudogene Neighboring gene long intergenic non-protein coding RNA 671 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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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
  • 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...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • 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 biosystem
    Glycolysis and Gluconeogenesis
  • 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 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...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • 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...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    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...
  • 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
  • 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 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
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
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 IEA
Inferred from Electronic Annotation
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 
hexose transport TAS
Traceable Author Statement
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
pathogenesis TAS
Traceable Author Statement
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
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
glucose-6-phosphatase
G-6-Pase
G6Pase
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 proteins identical to 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
    Conserved Domains (2) summary
    COG0671
    Location:39192
    PgpB; Membrane-associated phospholipid phosphatase [Lipid 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
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38 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)

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    36817624..36831212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)