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    G6PC1 glucose-6-phosphatase catalytic subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2538, updated on 9-Aug-2021

    Summary

    Official Symbol
    G6PC1provided by HGNC
    Official Full Name
    glucose-6-phosphatase catalytic subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:4056
    See related
    Ensembl:ENSG00000131482 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
    G6PC; G6PT; GSD1; 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]
    Expression
    Biased expression in liver (RPKM 48.0), kidney (RPKM 22.9) and 2 other tissues See more
    Orthologs
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    Genomic context

    See G6PC1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42900799..42914438)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41052816..41066455)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 671 Neighboring gene HNF1 motif-containing MPRA enhancer 258 Neighboring gene RNA, U6 small nuclear 287, pseudogene Neighboring gene RNY4 pseudogene 2 Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene alanyl-tRNA synthetase domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC163350

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose-6-phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables glucose-6-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glucose-6-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucose-6-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables phosphate ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphotransferase activity, alcohol group as acceptor IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in glucose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose-6-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycogen catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycogen metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphorylated carbohydrate dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to resveratrol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    glucose-6-phosphatase catalytic subunit 1
    Names
    G-6-Pase
    G6Pase-alpha
    glucose-6-phosphatase alpha
    NP_000142.2
    NP_001257326.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000151.4NP_000142.2  glucose-6-phosphatase catalytic subunit 1 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, AW614228, U01120
      Consensus CDS
      CCDS11446.1
      UniProtKB/Swiss-Prot
      P35575
      Related
      ENSP00000253801.1, ENST00000253801.7
      Conserved Domains (1) summary
      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_001270397.2NP_001257326.1  glucose-6-phosphatase catalytic subunit 1 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
      ENSP00000465958.1, ENST00000592383.5
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      42900799..42914438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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