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    G6PC3 glucose-6-phosphatase catalytic subunit 3 [ Homo sapiens (human) ]

    Gene ID: 92579, updated on 26-Jul-2021

    Summary

    Official Symbol
    G6PC3provided by HGNC
    Official Full Name
    glucose-6-phosphatase catalytic subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:24861
    See related
    Ensembl:ENSG00000141349 MIM:611045
    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
    SCN4; UGRP
    Summary
    This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 23.0), kidney (RPKM 18.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See G6PC3 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44070673..44076344)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42148041..42153712)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 101 Neighboring gene LSM12 homolog Neighboring gene histone deacetylase 5 Neighboring gene uncharacterized LOC105371789 Neighboring gene RNA, U6 small nuclear 131, pseudogene

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.
    GeneReviews: Not available
    Severe congenital neutropenia 4, autosomal recessive
    MedGen: C2675526 OMIM: 612541 GeneReviews: G6PC3 Deficiency
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glucose-6-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in dephosphorylation 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 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-6-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    glucose-6-phosphatase 3
    Names
    G-6-Pase 3
    G6Pase 3
    G6Pase-beta
    glucose 6 phosphatase, catalytic, 3
    ubiquitous glucose-6-phosphatase catalytic subunit-related protein
    ubiquitously expressed G6Pase catalytic subunit-related protein
    NP_001306874.1
    NP_001371094.1
    NP_001371095.1
    NP_001371096.1
    NP_001371097.1
    NP_612396.1
    XP_011523776.1

    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_015818.1 RefSeqGene

      Range
      5001..10615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_182

    mRNA and Protein(s)

    1. NM_001319945.2NP_001306874.1  glucose-6-phosphatase 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC023855
      Conserved Domains (1) summary
      cl00474
      Location:38141
      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 ...
    2. NM_001384165.1NP_001371094.1  glucose-6-phosphatase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC023855
      Conserved Domains (1) summary
      cl00474
      Location:1155
      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 ...
    3. NM_001384166.1NP_001371095.1  glucose-6-phosphatase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC023855
      Conserved Domains (1) summary
      cl00474
      Location:1155
      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 ...
    4. NM_001384167.1NP_001371096.1  glucose-6-phosphatase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC023855
      Conserved Domains (1) summary
      cl00474
      Location:1155
      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 ...
    5. NM_001384168.1NP_001371097.1  glucose-6-phosphatase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC023855
      Conserved Domains (1) summary
      cl00474
      Location:1155
      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 ...
    6. NM_138387.4NP_612396.1  glucose-6-phosphatase 3 isoform 1

      See identical proteins and their annotated locations for NP_612396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC023855
      Consensus CDS
      CCDS11476.1
      UniProtKB/Swiss-Prot
      Q9BUM1
      Related
      ENSP00000269097.3, ENST00000269097.9
      Conserved Domains (1) summary
      cd03381
      Location:38270
      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 ...

    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
      44070673..44076344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525474.3XP_011523776.1  glucose-6-phosphatase 3 isoform X1

      See identical proteins and their annotated locations for XP_011523776.1

      Conserved Domains (1) summary
      cl00474
      Location:1155
      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 ...
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