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

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; 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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
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.
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.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MedGen: C2751630 OMIM: 612541 GeneReviews: G6PC3 Deficiency	Compare labs

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 EBI GWAS CatalogPubMed

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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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 more info	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

EC 3.1.3.9

NP_001371094.1

EC 3.1.3.9

NP_001371095.1

EC 3.1.3.9

NP_001371096.1

EC 3.1.3.9

NP_001371097.1

EC 3.1.3.9

NP_612396.1

EC 3.1.3.9

XP_011523776.1

EC 3.1.3.9

XP_054173776.1

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_015818.1 RefSeqGene

Range

5001..10615

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_182

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...
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 ...
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

44070673..44076344

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...