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

Gene ID: 92579, updated on 27-Nov-2024

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
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Genomic context

See G6PC3 in Genome Data Viewer
Location:
17q21.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44070673..44076344)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44923182..44928851)
RS_2024_09 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

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001319945.2NP_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
    Consensus CDS
    CCDS92335.1
    UniProtKB/TrEMBL
    K7EJC5
    Related
    ENSP00000465111.2, ENST00000590253.3
    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
    Consensus CDS
    CCDS92336.1
    UniProtKB/TrEMBL
    A0A8Q3SIG5
    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. NM_001384166.1NP_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: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 ...
  4. NM_001384167.1NP_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: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 ...
  5. NM_001384168.1NP_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: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 ...
  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
    Q8WU15, Q9BUM1
    Related
    ENSP00000269097.3, ENST00000269097.9
    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: GCF_000001405.40-RS_2024_08

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_011525474.4XP_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: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 ...

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_054317801.1XP_054173776.1  glucose-6-phosphatase 3 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIG5