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

Gene ID: 92579, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:24861
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

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Location:
17q21.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44070673..44076344)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44923182..44928851)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42148041..42153712)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42102423-42102924 Neighboring gene uncharacterized LOC124904152 Neighboring gene LSM12 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42146518-42147445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42147446-42148372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12251 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42149300-42150225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42152642-42153376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42154394-42154933 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:42159496-42160695 Neighboring gene histone deacetylase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42169749-42170254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42172728-42173488 Neighboring gene Sharpr-MPRA regulatory region 9416 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42176231-42176442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42182651-42183302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42189382-42189882 Neighboring gene uncharacterized LOC105371789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42202517-42203016 Neighboring gene RNA, U6 small nuclear 131, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos]. Hong M, et al. Zhonghua Xue Ye Xue Za Zhi, 2023 Apr 14. PMID 37357000, Free PMC Article
  2. Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population. López-Rodríguez L, et al. Rev Invest Clin, 2022. PMID 36546889
  3. Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. Velez-Tirado N, et al. Scand J Immunol, 2022 Apr. PMID 34964150
  4. Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. Dai R, et al. Front Immunol, 2021. PMID 34305938, Free PMC Article
  5. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. Maroufi SF, et al. Endocr Metab Immune Disord Drug Targets, 2021. PMID 34137364

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos].
    Title: [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos].
  2. Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
    Title: Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
  3. Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
    Title: Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
  4. G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo.
    Title: G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo.
  5. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
    Title: Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
  6. Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
    Title: Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
  7. A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.
    Title: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.
  8. Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
    Title: Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
  9. The Transplantation Resistance of Type II Diabetes Mellitus Adipose-Derived Stem Cells Is Due to G6PC and IGF1 Genes Related to the FoxO Signaling Pathway.
    Title: The Transplantation Resistance of Type II Diabetes Mellitus Adipose-Derived Stem Cells Is Due to G6PC and IGF1 Genes Related to the FoxO Signaling Pathway.
  10. Deciphering Biochemical and Molecular Signatures Associated with Obesity in Context of Metabolic Health.
    Title: Deciphering Biochemical and Molecular Signatures Associated with Obesity in Context of Metabolic Health.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
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.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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 membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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
XP_054173776.1

NCBI Reference Sequences (RefSeq)

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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_001319945.2 → NP_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
    Consensus CDS
    CCDS92335.1
    UniProtKB/TrEMBL
    K7EJC5
    Related
    ENSP00000465111.2, ENST00000590253.3
    Conserved Domains (1) summary
    cl00474
    Location:38 → 141
    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_001384165.1 → NP_001371094.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
    Consensus CDS
    CCDS92336.1
    UniProtKB/TrEMBL
    A0A8Q3SIG5
    Conserved Domains (1) summary
    cl00474
    Location:1 → 155
    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_001384166.1 → NP_001371095.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
    Consensus CDS
    CCDS92336.1
    UniProtKB/TrEMBL
    A0A8Q3SIG5
    Conserved Domains (1) summary
    cl00474
    Location:1 → 155
    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_001384167.1 → NP_001371096.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
    Consensus CDS
    CCDS92336.1
    UniProtKB/TrEMBL
    A0A8Q3SIG5
    Conserved Domains (1) summary
    cl00474
    Location:1 → 155
    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_001384168.1 → NP_001371097.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
    Consensus CDS
    CCDS92336.1
    UniProtKB/TrEMBL
    A0A8Q3SIG5
    Related
    ENSP00000512593.1, ENST00000696383.1
    Conserved Domains (1) summary
    cl00474
    Location:1 → 155
    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_138387.4 → NP_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
    Q8WU15, Q9BUM1
    Related
    ENSP00000269097.3, ENST00000269097.9
    Conserved Domains (1) summary
    cd03381
    Location:38 → 270
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011525474.4 → XP_011523776.1  glucose-6-phosphatase 3 isoform X1

    See identical proteins and their annotated locations for XP_011523776.1

    UniProtKB/TrEMBL
    A0A8Q3SIG5
    Conserved Domains (1) summary
    cl00474
    Location:1 → 155
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44923182..44928851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317801.1 → XP_054173776.1  glucose-6-phosphatase 3 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIG5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUM1.2 GenPept UniProtKB/Swiss-Prot:Q9BUM1

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