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Aliases for G6PD Gene

Aliases for G6PD Gene

  • Glucose-6-Phosphate Dehydrogenase 2 3 5
  • EC 1.1.1.49 4 63
  • G6PD1 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 hemolytic anemia due to g6pd deficiency and favism. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include protein homodimerization activity and carbohydrate 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

Genomic Location for G6PD Gene

Chromosome:
X
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

Genes around G6PD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 97, Lys 171, and Lys 403
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for G6PD Gene

Protein Domains for G6PD Gene

Graphical View of Domain Structure for InterPro Entry

P11413

UniProtKB/Swiss-Prot:

G6PD_HUMAN :
  • Belongs to the glucose-6-phosphate dehydrogenase family.
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:0050661 NADP binding IEA,IDA 15858258
genes like me logo Genes that share ontologies with G6PD: view
genes like me logo Genes that share phenotypes with G6PD: view

Human Phenotype Ontology for G6PD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PD Gene

MGI Knock Outs for G6PD:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
cytosol 5
extracellular 5
plasma membrane 5
nucleus 4
mitochondrion 3
chloroplast 2
peroxisome 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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 & Interactions for G6PD Gene

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

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.

SIGNOR curated interactions for G6PD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process IEA --
GO:0006098 pentose-phosphate shunt TAS --
GO:0006629 lipid metabolic process TAS 17361089
GO:0006695 cholesterol biosynthetic process IMP 12027950
genes like me logo Genes that share ontologies with G6PD: view

Drugs & Compounds for G6PD Gene

(109) Drugs for G6PD Gene - From: Novoseek, HMDB, PharmGKB, DrugBank, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Primaquine Approved Pharma 64
Aspirin Approved Pharma Channel blocker 1029
chloroquine Approved Pharma Agonist 141
Dapsone Approved, Investigational Pharma 62
Glyburide Approved Pharma Channel blocker 107

(84) Additional Compounds for G6PD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
6-Phosphonoglucono-D-lactone
  • 6-(Dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-(9CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-D-Gluconic acid delta-lactone
  • 6-Pgdl
  • 6-Phospho-D-glucono-1,5-lactone
2641-81-8
Beta-D-Glucose 6-phosphate
  • beta-D-Glucose 6-(dihydrogen phosphate)
  • beta-D-Glucose 6-phosphate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with G6PD: view

Transcripts for G6PD Gene

CRISPR Products

Inhibitory RNA 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 (x9.3).

Protein differential expression in normal tissues from HIPED for G6PD Gene

This gene is overexpressed in Testis (11.8), Lymph node (7.1), and NK cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with G6PD: view

Protein tissue co-expression partners for G6PD Gene

- Elite partner

Primer Products

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 36
  • 94 (a)
OneToOne
G6PD 35
  • 90.4 (n)
  • 92.11 (a)
dog
(Canis familiaris)
Mammalia G6PD 35
  • 89.85 (n)
  • 91.74 (a)
G6PD 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia G6pdx 16
G6pdx 35
  • 87.44 (n)
  • 93.79 (a)
G6pd2 36
  • 87 (a)
OneToMany
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 CG7140 37
  • 41 (a)
Zw 37
  • 65 (a)
Zw 35
  • 68.62 (n)
  • 65.18 (a)
Zw 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0035.5 37
  • 60 (a)
gspd-1 36
  • 57 (a)
OneToOne
gspd-1 35
  • 58.63 (n)
  • 61.75 (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
VAR_002450 -
VAR_002451 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
VAR_002453 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
VAR_002454 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
VAR_002455 Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)

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

Variation tolerance for G6PD Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for G6PD Gene

HapMap Linkage Disequilibrium report
G6PD
Human Gene Mutation Database (HGMD)
G6PD

Disorders for G6PD Gene

MalaCards: The human disease database

(44) MalaCards diseases for G6PD Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to g6pd deficiency
  • anemia, non-spherocytic hemolytic, due to g6pd deficiency
favism
  • glucose-6-phosphate dehydrogenase deficiency
g6pd-related altered drug metabolism
  • favism
glucosephosphate dehydrogenase deficiency
  • deficiency of g-6pd
malaria
  • malaria, severe
- elite association - COSMIC cancer census association via MalaCards
Search G6PD in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:26479991}. 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
G6PD
genes like me logo Genes that share disorders with G6PD: view

Publications for G6PD Gene

  1. A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. (PMID: 7959695) Filosa S. … Martini G. (Hum. Genet. 1994) 3 4 48 67
  2. Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis. (PMID: 20203002) Yan J.B. … Huang S.Z. (J Mol Diagn 2010) 3 23
  3. High glucose inhibits glucose-6-phosphate dehydrogenase, leading to increased oxidative stress and beta-cell apoptosis. (PMID: 20032314) Zhang Z. … Stanton R.C. (FASEB J. 2010) 3 23
  4. Synchrony of G6PD activity and RBC fragility under oxidative stress exerted at normal and G6PD deficiency. (PMID: 19941843) Abboud M.M. … Al-Awaida W. (Clin. Biochem. 2010) 3 23
  5. [Relationship between glucose-6-phosphate dehydrogenase gene mutations and neonatal jaundice in Naning, Guangxi]. (PMID: 20113600) Zhong D.N. … Wei L.M. (Zhongguo Dang Dai Er Ke Za Zhi 2009) 3 23

Products for G6PD Gene

Sources for G6PD Gene

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