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Aliases for G6PD Gene

Aliases for G6PD Gene

  • Glucose-6-Phosphate Dehydrogenase 2 3
  • EC 1.1.1.49 4 63
  • G6PD1 3 6
  • Glucose-6-Phosphate 1-Dehydrogenase 3

External Ids for G6PD Gene

Previous GeneCards Identifiers for G6PD Gene

  • GC0XM147822
  • GC0XM150140
  • GC0XM151344
  • GC0XM152227
  • GC0XM153323
  • GC0XM153412
  • GC0XM153759
  • GC0XM142336

Summaries for G6PD Gene

Entrez Gene Summary for G6PD Gene

  • This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for G6PD Gene

G6PD (Glucose-6-Phosphate Dehydrogenase) is a Protein Coding gene. Diseases associated with G6PD include favism and glucose-6-phosphate dehydrogenase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and glucose binding. An important paralog of this gene is H6PD.

UniProtKB/Swiss-Prot for G6PD Gene

  • Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.

Gene Wiki entry for G6PD Gene

PharmGKB "VIP" Summary for G6PD Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for G6PD Gene

Genomics for G6PD Gene

Regulatory Elements for G6PD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for G6PD Gene

Start:
154,531,390 bp from pter
End:
154,547,586 bp from pter
Size:
16,197 bases
Orientation:
Minus strand

Genomic View for G6PD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for G6PD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PD Gene

Proteins for G6PD Gene

  • Protein details for G6PD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11413-G6PD_HUMAN
    Recommended name:
    Glucose-6-phosphate 1-dehydrogenase
    Protein Accession:
    P11413
    Secondary Accessions:
    • D3DWX9
    • Q16000
    • Q16765
    • Q8IU70
    • Q8IU88
    • Q8IUA6
    • Q96PQ2

    Protein attributes for G6PD Gene

    Size:
    515 amino acids
    Molecular mass:
    59257 Da
    Quaternary structure:
    • Homotetramer; dimer of dimers. Interacts with SIRT2; the interaction is enhanced by H(2)O(2) treatment.
    Miscellaneous:
    • Binds two molecules of NADP. The first one is a cosubstrate (bound to the N-terminal domain), the second is bound to the C-terminal domain and functions as a structural element
    SequenceCaution:
    • Sequence=AAA63175.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for G6PD Gene

    Alternative splice isoforms for G6PD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PD Gene

Proteomics data for G6PD Gene at MOPED

Post-translational modifications for G6PD Gene

  • Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity.
  • Ubiquitination at Lys97, Lys171, and Lys403
  • Modification sites at PhosphoSitePlus

Other Protein References for G6PD Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for G6PD (G6PD)

Domains for G6PD Gene

Protein Domains for G6PD Gene

Graphical View of Domain Structure for InterPro Entry

P11413

UniProtKB/Swiss-Prot:

G6PD_HUMAN :
  • P11413
Family:
  • Belongs to the glucose-6-phosphate dehydrogenase family.
genes like me logo Genes that share domains with G6PD: view

No data available for Gene Families for G6PD Gene

Function for G6PD Gene

Molecular function for G6PD Gene

GENATLAS Biochemistry: glucose-6-phosphate dehydrogenase,dimer,or tetramer of a 59.3kDa subunit,cytosolic,ubiquitously expressed,first step of pentose phosphate,pathway mainly involved in the defense against oxidizing agents through NADPH production,pentose phosphate pathway
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=7.07 uM for NADP {ECO:0000269 PubMed:15858258}; KM=52 uM for glucose 6-phosphate {ECO:0000269 PubMed:15858258};
UniProtKB/Swiss-Prot CatalyticActivity: D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + NADPH.
UniProtKB/Swiss-Prot Function: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.

Enzyme Numbers (IUBMB) for G6PD Gene

Gene Ontology (GO) - Molecular Function for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004345 glucose-6-phosphate dehydrogenase activity IMP 2420826
GO:0005515 protein binding IPI 21157431
GO:0005536 glucose binding IMP 5643703
GO:0030246 carbohydrate binding --
GO:0042802 identical protein binding IPI 24769394
genes like me logo Genes that share ontologies with G6PD: view
genes like me logo Genes that share phenotypes with G6PD: view

Animal Models for G6PD Gene

MGI Knock Outs for G6PD:

Animal Model Products

CRISPR Products

miRNA for G6PD Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for G6PD

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for G6PD Gene

Localization for G6PD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for G6PD Gene COMPARTMENTS Subcellular localization image for G6PD gene
Compartment Confidence
cytoskeleton 4
cytosol 4
plasma membrane 4
mitochondrion 3
chloroplast 2
endoplasmic reticulum 2
extracellular 2
nucleus 2
peroxisome 2
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with G6PD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for G6PD Gene

Pathways for G6PD Gene

genes like me logo Genes that share pathways with G6PD: view

PCR Array Products

UniProtKB/Swiss-Prot P11413-G6PD_HUMAN

  • Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3

Gene Ontology (GO) - Biological Process for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001816 cytokine production IMP 17361089
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process IEA --
GO:0006098 pentose-phosphate shunt TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with G6PD: view

Compounds for G6PD Gene

(8) HMDB Compounds for G6PD Gene

Compound Synonyms Cas Number PubMed IDs
6-Phosphonoglucono-D-lactone
  • 6-(dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone
2641-81-8
Beta-D-Glucose 6-phosphate
  • beta-D-glucose 6-(dihydrogen phosphate)
Not Available
Gluconolactone
  • 1,5-Gluconolactone
90-80-2
Glucose 6-phosphate
  • D(+)-Glucopyranose 6-phosphate
56-73-5
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(2) Drugbank Compounds for G6PD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2'-Monophosphoadenosine 5'-Diphosphoribose
target
Hydroxyacetic Acid
79-14-1 target

(149) Novoseek inferred chemical compound relationships for G6PD Gene

Compound -log(P) Hits PubMed IDs
glucose 6-phosphate 99.1 279
6-phosphogluconate 86 65
primaquine 81.1 51
nadph 78.1 129
nadp+ 74.8 43
genes like me logo Genes that share compounds with G6PD: view

Transcripts for G6PD Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for G6PD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for G6PD Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for G6PD Gene

GeneLoc Exon Structure for
G6PD
ECgene alternative splicing isoforms for
G6PD

Expression for G6PD Gene

mRNA expression in normal human tissues for G6PD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PD Gene

This gene is overexpressed in Whole Blood (9.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for G6PD Gene

SOURCE GeneReport for Unigene cluster for G6PD Gene Hs.461047

mRNA Expression by UniProt/SwissProt for G6PD Gene

P11413-G6PD_HUMAN
Tissue specificity: Isoform Long is found in lymphoblasts, granulocytes and sperm
genes like me logo Genes that share expressions with G6PD: view

In Situ Assay Products

Orthologs for G6PD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for G6PD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia G6PD 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia G6PD 35
  • 90.4 (n)
  • 92.11 (a)
G6PD 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia G6PD 35
  • 89.85 (n)
  • 91.74 (a)
G6PD 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia G6pd2 36
  • 87 (a)
OneToMany
G6pdx 35
  • 87.44 (n)
  • 93.79 (a)
G6pdx 16
G6pdx 36
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia G6PD 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia G6PD 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia G6pd 35
  • 87.57 (n)
  • 93.79 (a)
lizard
(Anolis carolinensis)
Reptilia G6PD 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pd 35
  • 71.4 (n)
  • 77.2 (a)
zebrafish
(Danio rerio)
Actinopterygii g6pd 35
  • 69.76 (n)
  • 76.4 (a)
g6pd 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012678 35
  • 66.53 (n)
  • 67.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Zw 35
  • 68.62 (n)
  • 65.18 (a)
Zw 36
  • 60 (a)
OneToOne
Zw 37
  • 65 (a)
CG7140 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea gspd-1 35
  • 58.63 (n)
  • 61.75 (a)
gspd-1 36
  • 57 (a)
OneToOne
B0035.5 37
  • 60 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL206C 35
  • 54.28 (n)
  • 48.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZWF1 35
  • 54.68 (n)
  • 49.79 (a)
ZWF1 36
  • 45 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19855g 35
  • 52.22 (n)
  • 48.84 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3508 35
soybean
(Glycine max)
eudicotyledons Gma.16750 35
thale cress
(Arabidopsis thaliana)
eudicotyledons G6PD6 35
  • 54.99 (n)
  • 55.98 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2912 35
corn
(Zea mays)
Liliopsida Zm.3058 35
rice
(Oryza sativa)
Liliopsida Os04g0485300 35
  • 58.39 (n)
  • 58.53 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.706 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09111 35
  • 59.33 (n)
  • 51.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes zwf1 35
  • 53.25 (n)
  • 49.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToOne
Species with no ortholog for G6PD:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for G6PD Gene

ENSEMBL:
Gene Tree for G6PD (if available)
TreeFam:
Gene Tree for G6PD (if available)

Paralogs for G6PD Gene

Paralogs for G6PD Gene

genes like me logo Genes that share paralogs with G6PD: view

Variants for G6PD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for G6PD Gene

P11413-G6PD_HUMAN
The sequence shown is that of variant B, the most common variant

Sequence variations from dbSNP and Humsavar for G6PD Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs743544 -- 154,536,951(-) ATTTC(C/T)AGCTT intron-variant
rs762515 -- 154,536,313(+) TGATA(C/T)ACAGA intron-variant
rs762516 -- 154,536,448(+) AAGTA(C/T)CATGT intron-variant
rs762517 -- 154,536,519(+) ATAAG(A/G)AGCTA intron-variant
rs1050757 -- 154,531,643(-) GGGAC(A/G)AGGGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for G6PD Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv508816 CNV Insertion 20534489

Relevant External Links for G6PD Gene

HapMap Linkage Disequilibrium report
G6PD
Human Gene Mutation Database (HGMD)
G6PD
Locus Specific Mutation Databases (LSDB)
G6PD

Disorders for G6PD Gene

(3) OMIM Diseases for G6PD Gene (305900)

UniProtKB/Swiss-Prot

G6PD_HUMAN
  • Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. {ECO:0000269 PubMed:1611091}. Note=The disease is caused by mutations affecting the gene represented in this entry. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of NSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class-IV have near normal activity.

(99) Novoseek inferred disease relationships for G6PD Gene

Disease -log(P) Hits PubMed IDs
g6pd deficiency 99.3 533
favism 94 37
enzymopathy 92.4 49
jaundice neonatal 90.8 104
kernicterus 88.2 49

Genatlas disease for G6PD Gene

anemia,non spherocytic,congenital,hemolytic anemia,favism

Relevant External Links for G6PD

Genetic Association Database (GAD)
G6PD
Human Genome Epidemiology (HuGE) Navigator
G6PD
genes like me logo Genes that share disorders with G6PD: view

Publications for G6PD Gene

  1. New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. (PMID: 1611091) Beutler E. … Baronciani L. (Blood 1992) 3 4 23
  2. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. (PMID: 7858267) Mason P.J. … Luzzatto L. (Blood 1995) 3 4 23
  3. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. (PMID: 8533762) Kaeda J.S. … Mason P.J. (Am. J. Hum. Genet. 1995) 3 4 23
  4. Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. (PMID: 8193373) Hirono A. … Kubota K. (Blood 1994) 3 4 23
  5. Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P and marked in vivo instability. (PMID: 1536798) Filosa S. … Battistuzzi G. (Br. J. Haematol. 1992) 3 4 23

Products for G6PD Gene

  • Addgene plasmids for G6PD

Sources for G6PD Gene

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