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Aliases for G6PC3 Gene

Aliases for G6PC3 Gene

  • Glucose 6 Phosphatase Catalytic Subunit 3 2 3
  • Glucose 6 Phosphatase, Catalytic, 3 2 3 5
  • Ubiquitous Glucose-6-Phosphatase Catalytic Subunit-Related Protein 3 4
  • G6Pase-Beta 3 4
  • G-6-Pase 3 3 4
  • EC 3.1.3.9 4 63
  • G6Pase 3 3 4
  • UGRP 3 4
  • Ubiquitously Expressed G6Pase Catalytic Subunit-Related Protein 3
  • Glucose-6-Phosphatase Catalytic Subunit 3 3
  • Glucose-6-Phosphatase Beta 4
  • SCN4 3

External Ids for G6PC3 Gene

Previous GeneCards Identifiers for G6PC3 Gene

  • GC17P042623
  • GC17P039503
  • GC17P042148
  • GC17P037912

Summaries for G6PC3 Gene

Entrez Gene Summary for G6PC3 Gene

  • 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]

GeneCards Summary for G6PC3 Gene

G6PC3 (Glucose 6 Phosphatase Catalytic Subunit 3) is a Protein Coding gene. Diseases associated with G6PC3 include neutropenia, severe congenital 4, autosomal recessive and neutropenia. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC.

UniProtKB/Swiss-Prot for G6PC3 Gene

  • Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.

Gene Wiki entry for G6PC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for G6PC3 Gene

Genomics for G6PC3 Gene

Regulatory Elements for G6PC3 Gene

Promoters for G6PC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around G6PC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for G6PC3 Gene

Chromosome:
17
Start:
44,070,730 bp from pter
End:
44,076,344 bp from pter
Size:
5,615 bases
Orientation:
Plus strand

Genomic View for G6PC3 Gene

Genes around G6PC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC3 Gene

Proteins for G6PC3 Gene

  • Protein details for G6PC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUM1-G6PC3_HUMAN
    Recommended name:
    Glucose-6-phosphatase 3
    Protein Accession:
    Q9BUM1
    Secondary Accessions:
    • Q8WU15

    Protein attributes for G6PC3 Gene

    Size:
    346 amino acids
    Molecular mass:
    38735 Da
    Quaternary structure:
    No Data Available

neXtProt entry for G6PC3 Gene

Proteomics data for G6PC3 Gene at MOPED

Selected DME Specific Peptides for G6PC3 Gene

Post-translational modifications for G6PC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for G6PC3 Gene

Domains & Families for G6PC3 Gene

Gene Families for G6PC3 Gene

Protein Domains for G6PC3 Gene

Suggested Antigen Peptide Sequences for G6PC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUM1

UniProtKB/Swiss-Prot:

G6PC3_HUMAN :
  • Belongs to the glucose-6-phosphatase family.
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC3: view

Function for G6PC3 Gene

Molecular function for G6PC3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.0 mM for glucose-6-phosphate (at pH 5.5) {ECO:0000269 PubMed:12965222, ECO:0000269 PubMed:13129915}; KM=2.0 mM for glucose-6-phosphate (at pH 6.5) {ECO:0000269 PubMed:12965222, ECO:0000269 PubMed:13129915}; Note=8 times less active compared to G6PC under the same experimental conditions.;
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by vanadate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.

Enzyme Numbers (IUBMB) for G6PC3 Gene

genes like me logo Genes that share phenotypes with G6PC3: view

Human Phenotype Ontology for G6PC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC3 Gene

MGI Knock Outs for G6PC3:

Animal Model Products

  • Taconic Biosciences Mouse Models for G6PC3

miRNA for G6PC3 Gene

miRTarBase miRNAs that target G6PC3

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for G6PC3 Gene

Localization for G6PC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for G6PC3 Gene COMPARTMENTS Subcellular localization image for G6PC3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with G6PC3: view

Pathways & Interactions for G6PC3 Gene

genes like me logo Genes that share pathways with G6PC3: view

UniProtKB/Swiss-Prot Q9BUM1-G6PC3_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Interacting Proteins for G6PC3 Gene

Gene Ontology (GO) - Biological Process for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006094 gluconeogenesis IEA --
GO:0008645 hexose transport TAS --
GO:0015758 glucose transport TAS --
GO:0015760 glucose-6-phosphate transport IEA --
genes like me logo Genes that share ontologies with G6PC3: view

No data available for SIGNOR curated interactions for G6PC3 Gene

Drugs & Compounds for G6PC3 Gene

(1) Drugs for G6PC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucose 6-phosphate Experimental Pharma 0

(4) Additional Compounds for G6PC3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Glucose
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001
50-99-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with G6PC3: view

Transcripts for G6PC3 Gene

Unigene Clusters for G6PC3 Gene

Glucose 6 phosphatase, catalytic, 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e
SP1: - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for G6PC3 Gene

GeneLoc Exon Structure for
G6PC3
ECgene alternative splicing isoforms for
G6PC3

Expression for G6PC3 Gene

mRNA expression in normal human tissues for G6PC3 Gene

Protein differential expression in normal tissues from HIPED for G6PC3 Gene

This gene is overexpressed in Placenta (21.8), Fetal gut (9.6), Testis (8.7), Retina (7.6), and Fetal testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for G6PC3 Gene



SOURCE GeneReport for Unigene cluster for G6PC3 Gene Hs.294005

mRNA Expression by UniProt/SwissProt for G6PC3 Gene

Q9BUM1-G6PC3_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes.
genes like me logo Genes that share expression patterns with G6PC3: view

Protein tissue co-expression partners for G6PC3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for G6PC3 Gene

Orthologs for G6PC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia G6PC3 35
  • 91.43 (n)
  • 91.91 (a)
G6PC3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia G6PC3 35
  • 90.37 (n)
  • 91.33 (a)
G6PC3 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia G6pc3 35
  • 85.45 (n)
  • 84.1 (a)
G6pc3 16
G6pc3 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia G6PC3 35
  • 99.61 (n)
  • 99.13 (a)
G6PC3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia G6pc3 35
  • 84.59 (n)
  • 81.79 (a)
oppossum
(Monodelphis domestica)
Mammalia G6PC3 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia G6PC3 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves G6PC3 35
  • 60.32 (n)
  • 53.54 (a)
G6PC3 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia G6PC3 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pc3.1 35
  • 54.38 (n)
  • 45.62 (a)
Str.15098 35
zebrafish
(Danio rerio)
Actinopterygii g6pc3 35
  • 52.91 (n)
  • 46.99 (a)
g6pc3 36
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2593 35
fruit fly
(Drosophila melanogaster)
Insecta CG15400 36
  • 18 (a)
OneToMany
Species with no ortholog for G6PC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for G6PC3 Gene

ENSEMBL:
Gene Tree for G6PC3 (if available)
TreeFam:
Gene Tree for G6PC3 (if available)

Paralogs for G6PC3 Gene

Paralogs for G6PC3 Gene

(2) SIMAP similar genes for G6PC3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with G6PC3: view

Variants for G6PC3 Gene

Sequence variations from dbSNP and Humsavar for G6PC3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs34406052 - 44,075,421(-) AGAGG(A/G)TCCAA nc-transcript-variant, reference, synonymous-codon, missense
VAR_055156 Neutropenia, severe congenital 4, autosomal recessive (SCN4)
VAR_055157 Neutropenia, severe congenital 4, autosomal recessive (SCN4)
VAR_055158 Neutropenia, severe congenital 4, autosomal recessive (SCN4)
VAR_064508 Neutropenia, severe congenital 4, autosomal recessive (SCN4)

Structural Variations from Database of Genomic Variants (DGV) for G6PC3 Gene

Variant ID Type Subtype PubMed ID
nsv833454 CNV Loss 17160897

Variation tolerance for G6PC3 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for G6PC3 Gene

HapMap Linkage Disequilibrium report
G6PC3
Human Gene Mutation Database (HGMD)
G6PC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC3 Gene

Disorders for G6PC3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for G6PC3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital 4, autosomal recessive
  • dursun syndrome
neutropenia
  • leukopenia
g6pc3 deficiency
  • ubiquitous glucose-6-phosphatase deficiency
lymphopenia
  • lymphocytopenia
severe congenital neutropenia
  • kostmann disease
- elite association - COSMIC cancer census association via MalaCards
Search G6PC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PC3_HUMAN
  • Dursun syndrome (DURSS) [MIM:612541]: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. {ECO:0000269 PubMed:20799326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:19118303, ECO:0000269 PubMed:20220065, ECO:0000269 PubMed:20616219, ECO:0000269 PubMed:22050868, ECO:0000269 PubMed:22469094, ECO:0000269 PubMed:23018568, ECO:0000269 PubMed:23298686, ECO:0000269 PubMed:24105461, ECO:0000269 PubMed:24750412, ECO:0000269 PubMed:25492228}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for G6PC3

Human Genome Epidemiology (HuGE) Navigator
G6PC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
G6PC3
genes like me logo Genes that share disorders with G6PC3: view

No data available for Genatlas for G6PC3 Gene

Publications for G6PC3 Gene

  1. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit- related protein. (PMID: 12370122) Martin C.C. … O'Brien R.M. (J. Mol. Endocrinol. 2002) 2 3 4 23 67
  2. Identification and characterisation of a new human glucose-6- phosphatase isoform. (PMID: 12965222) Guionie O. … Burchell A. (FEBS Lett. 2003) 2 3
  3. Genetic analysis and clinical picture of severe congenital neutropenia in Israel. (PMID: 25284454) Lebel A. … Tamary H. (Pediatr Blood Cancer 2015) 3
  4. Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-I^ deficiency. (PMID: 25492228) Lin S.R. … Chou J.Y. (Mol. Genet. Metab. 2015) 3
  5. Testicular failure in a patient with G6PC3 deficiency. (PMID: 24796372) Yeshayahu Y. … Somech R. (Pediatr. Res. 2014) 3

Products for G6PC3 Gene

Sources for G6PC3 Gene

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