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Aliases for G6PC3 Gene

Aliases for G6PC3 Gene

  • Glucose 6 Phosphatase, Catalytic, 3 2 3
  • UGRP 3 4 6
  • 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
  • SCN4 3 6
  • Ubiquitously Expressed G6Pase Catalytic Subunit-Related Protein 3
  • Glucose-6-Phosphatase Catalytic Subunit 3 3
  • Glucose-6-Phosphatase Beta 4
  • Glucose-6-Phosphatase 3 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. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009]

GeneCards Summary for G6PC3 Gene

G6PC3 (Glucose 6 Phosphatase, Catalytic, 3) is a Protein Coding gene. Diseases associated with G6PC3 include neutropenia, severe congenital 4, autosomal recessive and severe congenital neutropenia. Among its related pathways are PI3K-Akt signaling pathway and 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

Genomic Location for G6PC3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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 :
  • Q9BUM1
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC3: view

No data available for Gene Families for G6PC3 Gene

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

Gene Ontology (GO) - Molecular Function for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004346 glucose-6-phosphatase activity IMP 25492228
genes like me logo Genes that share ontologies with G6PC3: view
genes like me logo Genes that share phenotypes with G6PC3: view

Animal Models for G6PC3 Gene

MGI Knock Outs for G6PC3:

miRNA for G6PC3 Gene

miRTarBase miRNAs that target G6PC3

No data available for Transcription Factor Targeting 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:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with G6PC3: view

Pathways 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:0006796 phosphate-containing compound metabolic process --
GO:0008152 metabolic process --
GO:0008645 hexose transport TAS --
genes like me logo Genes that share ontologies with G6PC3: view

Compounds for G6PC3 Gene

(2) HMDB Compounds for G6PC3 Gene

Compound Synonyms Cas Number PubMed IDs
Glucose 6-phosphate
  • D(+)-Glucopyranose 6-phosphate
56-73-5
Phosphate
  • NFB Orthophosphate
14265-44-2
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

Integrated Proteomics: protein expression 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 expressions with G6PC3: view

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
chimpanzee
(Pan troglodytes)
Mammalia G6PC3 35
  • 99.61 (n)
  • 99.13 (a)
G6PC3 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia G6PC3 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia G6PC3 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia G6pc3 35
  • 84.59 (n)
  • 81.79 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2593 35
zebrafish
(Danio rerio)
Actinopterygii g6pc3 35
  • 52.91 (n)
  • 46.99 (a)
g6pc3 36
  • 45 (a)
OneToOne
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

Selected 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 MAF
rs179266 -- 44,070,322(-) CCTTT(C/T)TAATT upstream-variant-2KB
rs228758 -- 44,070,837(-) CCAGC(A/G)GTCAC utr-variant-5-prime, nc-transcript-variant
rs228759 -- 44,072,390(-) attgc(A/G)ccact intron-variant
rs407421 -- 44,070,074(+) CCCCA(A/G)ATGAC upstream-variant-2KB
rs446157 -- 44,070,035(+) GCCTA(A/G)AATAG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv833454 CNV Loss 17160897

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

(1) OMIM Diseases for G6PC3 Gene (611045)

UniProtKB/Swiss-Prot

G6PC3_HUMAN
  • 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.
  • 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.

(1) University of Copenhagen DISEASES for G6PC3 Gene

Relevant External Links for G6PC3

Human Genome Epidemiology (HuGE) Navigator
G6PC3
genes like me logo Genes that share disorders with G6PC3: view

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
  2. Identification and characterisation of a new human glucose-6- phosphatase isoform. (PMID: 12965222) Guionie O. … Burchell A. (FEBS Lett. 2003) 2 3 4
  3. A syndrome with congenital neutropenia and mutations in G6PC3. (PMID: 19118303) Boztug K. … Klein C. (N. Engl. J. Med. 2009) 3 4
  4. Digenic mutations in severe congenital neutropenia. (PMID: 20220065) Germeshausen M. … Welte K. (Haematologica 2010) 3 4
  5. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. (PMID: 20616219) McDermott D.H. … Murphy P.M. (Blood 2010) 3 4

Products for G6PC3 Gene

Sources for G6PC3 Gene

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