Format

Send to:

Choose Destination

G6PC glucose-6-phosphatase catalytic subunit [ Homo sapiens (human) ]

Gene ID: 2538, updated on 25-Apr-2020

Summary

Official Symbol
G6PCprovided by HGNC
Official Full Name
glucose-6-phosphatase catalytic subunitprovided 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
G6PT; GSD1; G6PC1; 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

Genomic context

See G6PC in Genome Data Viewer
Location:
17q21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42900799..42914438)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41052814..41066450)

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

General protein information

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

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_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 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 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.

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)
Support Center