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

Gene ID: 92579, updated on 1-Aug-2020

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

Genomic context

See G6PC3 in Genome Data Viewer
Location:
17q21.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44070700..44076344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42148098..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
Severe congenital neutropenia 4, autosomal recessive
MedGen: C2675526 OMIM: 612541 GeneReviews: G6PC3 Deficiency
Compare labs

NHGRI 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.
NHGRI GWA Catalog

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
glucose-6-phosphatase activity EXP
Inferred from Experiment
more info
PubMed 
glucose-6-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose-6-phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose-6-phosphate transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA 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_612396.1
XP_011523775.1
XP_011523776.1
XP_016880824.1

NCBI Reference Sequences (RefSeq)

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
  3. NM_001384166.1NP_001371095.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
  4. NM_001384167.1NP_001371096.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
  5. NM_001384168.1NP_001371097.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023855
  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, ENST00000269097.8
    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 Annotation Release 109.20200522

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
    44070700..44076344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025335.2XP_016880824.1  glucose-6-phosphatase 3 isoform X1

    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 ...
  2. 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 ...
  3. XM_011525473.3XP_011523775.1  glucose-6-phosphatase 3 isoform X1

    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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