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G6PC Gene

protein-coding   GIFtS: 67
GCID: GC17P041052

Glucose-6-Phosphatase, Catalytic Subunit

(Previous names: glucose-6-phosphatase, catalytic (glycogen storage disease...)
(Previous symbol: G6PT)
  See G6PC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucose-6-Phosphatase, Catalytic Subunit1 2     Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von
Gierke Disease)1
G6PT1 2 3 5     Glycogen Storage Disease Type I1
Glucose-6-Phosphatase Alpha2 3     Von Gierke Disease1
G-6-Pase2 3     G6PC12
G6Pase2 3     GSD12
G6Pase-alpha2 3     GSD1a2
EC 3.1.3.93 8     glucose-6-phosphatase2

External Ids:    HGNC: 40561   Entrez Gene: 25382   Ensembl: ENSG000001314827   OMIM: 6137425   UniProtKB: P355753   

Export aliases for G6PC gene to outside databases

Previous GC identifers: GC17M040566 GC17P043214 GC17P040961 GC17P041425 GC17P038306 GC17P036817


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type 1a, and glycogen storage disease. GO annotations related to this gene include glucose-6-phosphatase activity and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is G6PC3.

UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575
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

Gene Wiki entry for G6PC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the G6PC gene promoter:
         PPAR-gamma1   HNF-4alpha2   PPAR-gamma2   HNF-4alpha1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): G6PC promoter sequence
   Search Chromatin IP Primers for G6PC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat G6PC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21

G6PC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G6PC gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P041052:  view genomic region     (about GC identifiers)

Start:
41,052,814 bp from pter      End:
41,065,386 bp from pter
Size:
12,573 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 (See protein sequence)
Recommended Name: Glucose-6-phosphatase  
Size: 357 amino acids; 40484 Da
Sequence caution: Sequence=BAG64735.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A1L4C0 B4E1C3 K7EL82
Alternative splicing: 2 isoforms:  P35575-1   P35575-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for G6PC: NX_P35575

Explore proteomics data for G6PC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn96
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for G6PC (P35575) (see all 15)
     DTDYYSN  LSFCKSA  FKWILFG  AHFPHQV 


    See G6PC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000142.2  NP_001257326.1  

    ENSEMBL proteins: 
     ENSP00000465958   ENSP00000253801   ENSP00000466202  
    Reactome Protein details: P35575

    G6PC Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for G6PC
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    GenScript Custom Purified and Recombinant Proteins Services for G6PC
    Novus Biologicals G6PC Protein
    Novus Biologicals G6PC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for G6PC

     
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    G6PC Assay Products:

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    Search eBioscience for ELISAs for G6PC 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016275 Glucose-6-phosphatase
     IPR000326 P_Acid_Pase_2/haloperoxidase

    Graphical View of Domain Structure for InterPro Entry P35575

    ProtoNet protein and cluster: P35575

    1 Blocks protein domain: IPB000326 PA-phosphatase related phosphoesterase

    UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575
    Similarity: Belongs to the glucose-6-phosphatase family


    Find genes that share domains with G6PC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: G6PC_HUMAN, P35575
    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
    Catalytic activity: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate

         Genatlas biochemistry entry for G6PC:
    glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway

         Enzyme Number (IUBMB): EC 3.1.3.91 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004346glucose-6-phosphatase activity IDA10318794
    GO:0016773phosphotransferase activity, alcohol group as acceptor IEA--
    GO:0042301phosphate ion binding IMP12093795
         
    Find genes that share ontologies with G6PC           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for G6PC:
     Apoptosis resistance  Increased Erk phosphorylation  

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for G6pc):
     behavior/neurological  growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging 
     nervous system  normal  renal/urinary system  skeleton  tumorigenesis 

    Find genes that share phenotypes with G6PC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for G6PC: G6pctm1Jyc G6pctm2.2Jyc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for G6PC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for G6PC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for G6PC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for G6PC

    miRNA
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    miRTarBase miRNAs that target G6PC:
    hsa-mir-23a-3p (MIRT006281)

    Block miRNA regulation of human, mouse, rat G6PC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate G6PC (see all 35):
    hsa-miR-548j hsa-miR-607 hsa-miR-429 hsa-miR-29a hsa-miR-3916 hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidG6PC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for G6PC
    Predesigned siRNA for gene silencing in human, mouse, rat G6PC

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for G6PC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: G6PC (NM_000151)
    Sino Biological Human cDNA Clone for G6PC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for G6PC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat G6PC

    Cell Line
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA4-13141) for G6PC 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    G6PC_HUMAN, P35575: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytosol2
    golgi apparatus2
    lysosome2
    mitochondrion2
    nucleus2
    vacuole2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA10318794
    GO:0030176integral component of endoplasmic reticulum membrane TAS10318794

    Find genes that share ontologies with G6PC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for G6PC About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    2Galactose metabolism
    Galactose metabolism0.44
    Galactose metabolism0.44
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Regulation of Glucokinase by Glucokinase Regulatory Protein
    Glucose transport0.87
    Hexose transport0.87
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with G6PC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for G6PC
        Galactose metabolism
    Glycolysis and gluconeogenesis (short map)

    5 BioSystems Pathways for G6PC
        DNA damage response (only ATM dependent)
    SIDS Susceptibility Pathways
    Glycolysis and Gluconeogenesis
    FoxO family signaling
    FOXA2 and FOXA3 transcription factor networks


    1 Reactome Pathway for G6PC
        Glucose transport


    Selected Kegg Pathways  (Kegg details for G6PC) (see all 9):
        Glycolysis / Gluconeogenesis
    Galactose metabolism
    Starch and sucrose metabolism
    Metabolic pathways
    FoxO signaling pathway

    UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575
    Pathway: Carbohydrate biosynthesis; gluconeogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including G6PC (see all 7): 

              Nephrotoxicity in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for G6PC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for G6PC (P355753 ENSP000002538014) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXO1Q127783, ENSP000003688804I2D: score=1 STRING: ENSP00000368880
    CEBPBENSP000003054224STRING: ENSP00000305422
    CREB1ENSP000003876994STRING: ENSP00000387699
    FOXA3ENSP000003040044STRING: ENSP00000304004
    GPIENSP000003488774STRING: ENSP00000348877
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process TAS8211187
    GO:0005980glycogen catabolic process IEA--
    GO:0006094gluconeogenesis IMP8211187
    GO:0006641triglyceride metabolic process IEA--

    Find genes that share ontologies with G6PC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for G6PC
      Browse compounds at ApexBio 

    Browse Tocris compounds for G6PC

    5 HMDB Compounds for G6PC    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for G6PC gene (see all 79)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 6-phosphate 89 196 18337460 (5), 11899241 (4), 10940311 (3), 11949931 (3) (see all 93)
    glycogen 87.9 193 10643970 (4), 7744838 (3), 11739393 (2), 9001800 (2) (see all 99)
    phosphoenolpyruvate 81.3 62 15047713 (2), 17211624 (2), 12570714 (1), 12914928 (1) (see all 46)
    glucose 74.2 591 8574017 (6), 10960473 (6), 2168325 (5), 9270716 (5) (see all 99)
    2-deoxy-d-glucose 6-phosphate 70 1 8772513 (1)
    pyrophosphate 62.4 9 8605568 (1), 11386847 (1), 8385243 (1), 1311177 (1) (see all 6)
    fructose-6-phosphate 57.2 1 7733279 (1)
    mannose 6-phosphate 55.7 10 8611029 (2), 7646448 (1), 16452245 (1), 1846754 (1) (see all 6)
    acadesine 47.6 2 10866040 (1), 11359348 (1)
    pyruvate 46.2 15 17160355 (2), 1434530 (2), 15190939 (2), 12570714 (1) (see all 12)



    Find genes that share compounds with G6PC           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for G6PC gene (2 alternative transcripts): 
    NM_000151.3  NM_001270397.1  

    Unigene Cluster for G6PC:

    Glucose-6-phosphatase, catalytic subunit
    Hs.212293  [show with all ESTs]
    Unigene Representative Sequence: NM_000151
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592383 ENST00000253801(uc002icb.1 uc010whf.1) ENST00000585489
    ENST00000588481
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate G6PC (see all 35):
    hsa-miR-548j hsa-miR-607 hsa-miR-429 hsa-miR-29a hsa-miR-3916 hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidG6PC 3' UTR sequence
    Inhib. RNA
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    Primer
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    Flow Cytometry
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    Additional mRNA sequence: 

    AK313982.1 BC130478.1 BC136369.1 U01120.1 

    4 DOTS entries:

    DT.110428  DT.97859344  DT.216113  DT.91651868 

    24 AceView cDNA sequences:

    AW304142 U01120 AV656553 AA862953 NM_000151 BX110477 BX496236 BG569143 
    AV694195 AI672173 BX496198 H77746 AW614228 CB162421 R02471 AV686772 
    BX495293 AV684739 AV697108 AW611950 AW337736 AI245594 R02365 AI244022 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    G6PC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    G6PC Expression
    About this image


    G6PC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Mature Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
    G6PC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    G6PC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.212293
        Pathway & Disease-focused RT2 Profiler PCR Arrays including G6PC (see all 7): 
              Nephrotoxicity in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Fatty Liver in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for G6PC
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for G6PC gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia G6pc1 , 5 glucose-6-phosphatase, catalytic1, 5 84.87(n)1
    88.52(a)1
      11 (64.83 cM)5
    143771  NM_008061.31  NP_032087.21 
     1013675615 
    chicken
    (Gallus gallus)
    Aves LOC1008572981 glucose-6-phosphatase-like 71.52(n)
    70.59(a)
      100857298  XM_003642817.2  XP_003642865.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    66(a)
    58(a)
    1 ↔ many
    1 ↔ many
    6(62450083-62459577)
    6(62426353-62435573)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054228.12   -- 74.76(n)    BC054228.1 
    zebrafish
    (Danio rerio)
    Actinopterygii g6pca.21 glucose-6-phosphatase a, catalytic, tandem duplicate more 66.57(n)
    64.12(a)
      563180  NM_001163806.1  NP_001157278.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG154006
    --
    19(a)
    1 → many
    2L(2814336-2815760)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for G6PC gene
    G6PC32  G6PC22  
    2 SIMAP similar genes for G6PC using alignment to 2 protein entries:     G6PC_HUMAN (see all proteins):
    G6PC2    G6PC3

    Find genes that share paralogs with G6PC           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for G6PC (see all 418)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18011751,2,,4
    C,FGlycogen storage disease 1A (GSD1A)4 pathogenic141845324(+) GACAGC/TGTCCA 4 R C mis13Minor allele frequency- T:0.00NA EU 1327
    rs18011761,2,,4
    CGlycogen storage disease 1A (GSD1A)4 pathogenic141845325(+) ACAGCG/ATCCAT 4 /H /R mis12Minor allele frequency- A:0.00NA 4
    VAR_0462754
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462752 G W mis40--------
    VAR_0462704
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462702 A T mis40--------
    VAR_0462784
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462782 L R mis40--------
    VAR_0462554
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462552 K N mis40--------
    VAR_0462734
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462732 L P mis40--------
    VAR_0462564
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462562 T I mis40--------
    VAR_0052494
    Glycogen storage disease 1A (GSD1A)4--see VAR_0052492 G V mis40--------
    VAR_0462724
    Glycogen storage disease 1A (GSD1A)4--see VAR_0462722 N K mis40--------

    HapMap Linkage Disequilibrium report for G6PC (41052814 - 41065386 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for G6PC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv457742CNV Loss19166990
    nsv908258CNV Loss21882294
    nsv483009CNV Gain15286789
    esv33998OTHER Inversion15654335

    Human Gene Mutation Database (HGMD): G6PC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing G6PC
    DNA2.0 Custom Variant and Variant Library Synthesis for G6PC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613742   
    OMIM disorders: 232200  
    UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 10 diseases for G6PC:    
    About MalaCards
    glycogen storage disease type 1a    glycogen storage disease    glycogen storage disease type 1b    tendinitis
    hepatocellular adenoma    favism    hyperuricemia    portal hypertension
    hypoglycemia    sudden infant death syndrome

    7 diseases from the University of Copenhagen DISEASES database for G6PC:
    Glycogen storage disease     Hypoglycemia     Hyperuricemia     Hyperglycemia
    Diabetes mellitus     Neutropenia     Lactic acidosis

    Find genes that share disorders with G6PC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for G6PC gene (see all 51)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 96.2 144 7744838 (3), 11739393 (2), 9001800 (2), 20389290 (2) (see all 94)
    glycogen storage disease type i 95.4 45 7632512 (2), 7668282 (1), 7572155 (1), 11560001 (1) (see all 32)
    glycogen storage disease type vi 80.7 1 8728790 (1)
    lactic acidemia 77.1 5 8949949 (2), 11899241 (1), 12189168 (1)
    fanconi-bickel syndrome 68.7 1 7632512 (1)
    hyperuricemia 68.6 12 8949949 (2), 10625614 (1), 12713862 (1), 11899241 (1) (see all 7)
    hepatomegaly 65.4 10 11899241 (1), 12189168 (1), 12846528 (1), 9259982 (1) (see all 6)
    hypoglycemia 61.9 12 8949949 (2), 10625614 (1), 11899241 (1), 17023421 (1) (see all 7)
    metabolic disorder 56.5 25 8953636 (1), 8641644 (1), 11386847 (1), 9001800 (1) (see all 15)
    glycogen storage disease type iv 51.3 2 8245377 (1)

    GeneTests: G6PC
    GeneReviews: G6PC
    Genetic Association Database (GAD): G6PC
    Human Genome Epidemiology (HuGE) Navigator: G6PC (5 documents)

    Export disorders for G6PC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for G6PC gene, integrated from 10 sources (see all 443):
    (articles sorted by number of sources associating them with G6PC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PubMed id 15316959)1, 2, 4, 9 Ekstein J.... Risch N. (Am. J. Med. Genet. A 2004)
    2. The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PubMed id 12093795)1, 2, 9 Ghosh A.... Chou J.Y. (J. Biol. Chem. 2002)
    3. Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. (PubMed id 9705299)1, 2, 9 Pan C.J.... Chou J.Y. (J. Biol. Chem. 1998)
    4. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (PubMed id 8182131)1, 2, 9 Lei K.J.... Chou J.Y. (J. Clin. Invest. 1994)
    5. Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. (PubMed id 9001800)1, 2, 9 Lee W.J.... Lin W.H. (Clin. Genet. 1996)
    6. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (PubMed id 10960498)1, 2, 9 Weston B.W.... Chen Y.T. (Pediatr. Res. 2000)
    7. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PubMed id 7573034)1, 2, 9 Lei K.-J....Chou J.Y. (Am. J. Hum. Genet. 1995)
    8. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PubMed id 12373566)1, 2, 9 Matern D.... Chen Y.-T. (Eur. J. Pediatr. 2002)
    9. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (PubMed id 9332655)1, 2, 9 Parvari R.... Moses S.W. (Am. J. Med. Genet. 1997)
    10. 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. (PubMed id 10748407)1, 2, 9 Akanuma J.... Narisawa K. (Am. J. Med. Genet. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2538 HGNC: 4056 AceView: G6PC Ensembl:ENSG00000131482 euGenes: HUgn2538
    ECgene: G6PC Kegg: 2538 H-InvDB: G6PC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for G6PC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=G6PC[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for G6PC gene:
    Search GeneIP for patents involving G6PC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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