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

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; AllianceGenome:HGNC:4056
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: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42900799..42914438)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43757942..43771581)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41052816..41066455)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The FOXO1/G6PC axis promotes gastric cancer progression and mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR signaling pathway.
Title: The FOXO1/G6PC axis promotes gastric cancer progression and mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR signaling pathway.
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population.
Title: Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population.
G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.
Title: G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.
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.
Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
Title: Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Title: Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
The results distinguished two ovarian cancer phenotypes, one with elevated HK activity and low G6Pase activity, and another with the opposite characteristics.
Title: Linked Hexokinase and Glucose-6-Phosphatase Activities Reflect Grade of Ovarian Malignancy.
Five novel mutations, p.V99Cfs*3, p.G125R, IVS1-2A>T, IVS3+39G>A and IVS3+42G>A are reported for the first time to cause Glycogen storage disease type-1a among Indian ethnicity, suggesting separate ethnic founder effects for some mutations among Indian ethnicity. Functional characterization revealed that glucose-6-phosphatase activity was completely abrogated with the mutant proteins.
Title: Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.
The neutropenia in patients with G6PC3 or G6PT mutations is a metabolite-repair deficiency.
Title: Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
Microarrays revealed that G6PC mRNA was upregulated following GDNF-mediated dopaminergic differentiation of SH-SY5Y cells. Array association analysis showed three downregulated microRNAs that could possibly influence G6PC translation. Although qRT-PCR results were not significant, they did support the microarray findings with regard to trend. Western blotting also confirmed increased G6PC protein expression following GDNF
Title: Glucose-6-phosphatase-α participates in dopaminergic differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (46)

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

Associated conditions

Description	Tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MedGen: C2919796 OMIM: 232200 GeneReviews: Glycogen Storage Disease Type I	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G38154 (e-PCR)
- UniSTS:53341

SGC35243 (e-PCR)
- UniSTS:2410

SHGC-67307 (e-PCR)
- UniSTS:89991

RH17972 (e-PCR)
- UniSTS:16037

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	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 cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
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	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
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 regulation of gene expression	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	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glucose-6-phosphatase catalytic subunit 1

Names: G-6-Pase; G6Pase-alpha; glucose-6-phosphatase alpha

NP_000142.2

EC 3.1.3.9

NP_001257326.1

EC 3.1.3.9

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

NG_011808.1 RefSeqGene

Range

5000..18636

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_147

mRNA and Protein(s)

NM_000151.4 → NP_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

A1L4C0, B4E1C3, K7EL82, P35575

Related

ENSP00000253801.1, ENST00000253801.7

Conserved Domains (1) summary

cd03381
Location:42 → 280

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 ...
NM_001270397.2 → NP_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:42 → 114

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 ...