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    G6PD glucose-6-phosphate dehydrogenase [ Homo sapiens ]

    Gene ID: 2539, updated on 12-May-2012
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    Summary

    Official Symbol
    G6PDprovided by HGNC
    Official Full Name
    glucose-6-phosphate dehydrogenaseprovided by HGNC
    Primary source
    HGNC:4057
    See related
    Ensembl:ENSG00000160211; HPRD:02377; MIM:305900; Vega:OTTHUMG00000024237
    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
    G6PD1
    Summary
    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]
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    Genomic context

    Location :
    Xq28
    Sequence :
    Chromosome: X; NC_000023.10 (153759606..153775787, complement)
    See G6PD in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 10 (sodium/bile acid cotransporter family), member 3 Neighboring gene family with sequence similarity 3, member A Neighboring gene inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma Neighboring gene long intergenic non-protein coding RNA 204A Neighboring gene activating transcription factor 4 pseudogene 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Enzyme kinetics and molecular modeling studies of G6PD(Mahidol) associated with acute hemolytic anemia. Lu HR, et al. Indian J Biochem Biophys, 2011 Oct. PMID 22165289.
    2. Association of homozygous sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency. Lesesve JF, et al. Eur J Haematol, 2012 Apr. PMID 22117603.
    3. Overexpression of G6PD is associated with poor clinical outcome in gastric cancer. Wang J, et al. Tumour Biol, 2012 Feb. PMID 22012600.
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (229) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. analysis of mutations in homozygous sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency [case report]
      Title: Association of homozygous sickle cell anemia and glucose-6-phosphate dehydrogenase deficiency.
    2. G6PD contributes to replenish intracellular GSH and is a critical factor regulating GSH levels during oxidative stress.
      Title: [Effect of glucose-6-phosphate dehydrogenase on intracellular gsh level in Raji cells during oxidative stress].
    3. Data show that 563C-T was the commonest G6PD variant, while 1003A-G and 131C-G were less-frequent genetic variants of G6PD in Pakistani population.
      Title: Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Pakistani population.
    4. The frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races and might be a result of genetic drift within this isolated group.
      Title: Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli.
    5. overexpression of G6PD is closely related to progression of gastric cancer, and might be regarded as an independent predictor of poor prognosis for gastric cancer.
      Title: Overexpression of G6PD is associated with poor clinical outcome in gastric cancer.
    6. Enzyme kinetics and molecular modeling studies of G6PD(Mahidol) associated with acute hemolytic anemia
      Title: Enzyme kinetics and molecular modeling studies of G6PD(Mahidol) associated with acute hemolytic anemia.
    7. G6PD A- carriers had a lower increase of IgG3 levels to plasmodium falciparum MSP2 antigen during the transmission season than the noncarriers
      Title: G6PD A-variant influences the antibody responses to Plasmodium falciparum MSP2.
    8. Molecular studies revealed heterozygosity for an in-frame 18-bp deletion, mapping to exon 10 leading to a deletion of 6 residues, 362-367 (LNERKA), which is a novel G6PD class 1 variant, G6PD Tondela
      Title: Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.
    9. erythrocytes from the common African variant G6PD A- were used to analyze by redox proteomics the major oxidative changes occurring in host membrane proteins during intraerythrocytic development of Plasmodium falciparum, the most lethal malaria parasite
      Title: Stress response and cytoskeletal proteins involved in erythrocyte membrane remodeling upon Plasmodium falciparum invasion are differentially carbonylated in G6PD A- deficiency.
    10. Data report two families with novel mutations of glucose-6-phosphate dehydrogenase causing chronic nonspherocytic hemolytic anemia.
      Title: Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.
    Submit: New GeneRIF Correction See all (121)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

    G6PD deficiency

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat increases the rate of transcription from the human glucose 6-phosphate dehydrogenase (G6PD) promoter and thereby activates G6PD PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P11413 P11413 G6PD    HPRD  PubMed  
    P11413 Q6EEV6 SUMO4    HPRD  PubMed  
    BioGRID:108814 BioGRID:108814 G6PD    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108814 BioGRID:109547 HSPB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108814 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108814 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Co-purification 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the G6PD gene: The G6PD gene is conserved in , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, rice, and P.falciparum.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glucose binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glucose binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glucose-6-phosphate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NADPH regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glucose 6-phosphate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glutathione metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    negative regulation of protein glutathionylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    oxidation-reduction process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    pentose biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    pentose-phosphate shunt IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
    		  
    pentose-phosphate shunt, oxidative branch IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    ribose phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    internal side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    glucose-6-phosphate 1-dehydrogenase
    Names
    glucose-6-phosphate 1-dehydrogenase
    glucose-6-phosphate dehydrogenase, G6PD
    NP_000393.4
    NP_001035810.1
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    NCBI Reference Sequences (RefSeq)

    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_009015.1 RefSeqGene

      Range
      5001..21182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_148

    mRNA and Protein(s)

    1. NM_000402.3 → NP_000393.4  glucose-6-phosphate 1-dehydrogenase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). This full-length 545 aa form has been reported to be inactive, but may be processed to the smaller (515 aa) active form (PMID:8466644).
      Source sequence(s)
      AF277315, BC000337, X03674
      Consensus CDS
      CCDS14756.2
      UniProtKB/Swiss-Prot
      P11413
      Related
      ENSP00000377192, OTTHUMP00000026034, ENST00000393562, OTTHUMT00000061165
      Conserved Domains (3) summary
      TIGR00871
      Location:60 – 536
      Blast Score: 2075
      zwf; glucose-6-phosphate 1-dehydrogenase
      pfam00479
      Location:65 – 240
      Blast Score: 703
      G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
      pfam02781
      Location:242 – 536
      Blast Score: 1402
      G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

    2. NM_001042351.1 → NP_001035810.1  glucose-6-phosphate 1-dehydrogenase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AF277315, AL560686, BC000337, X03674
      Consensus CDS
      CCDS44023.1
      UniProtKB/Swiss-Prot
      P11413
      Related
      ENSP00000377194, OTTHUMP00000026039, ENST00000393564, OTTHUMT00000061170
      Conserved Domains (3) summary
      TIGR00871
      Location:30 – 506
      Blast Score: 2072
      zwf; glucose-6-phosphate 1-dehydrogenase
      pfam00479
      Location:35 – 210
      Blast Score: 701
      G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
      pfam02781
      Location:212 – 506
      Blast Score: 1401
      G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      153759606..153775787, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      142336102..142352295, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF277315.6 AAL27011.1
    genomic AY158096.1 AAN76367.1
    genomic AY158097.1 AAN76368.1
    genomic AY158098.1 AAN76369.1
    genomic AY158099.1 AAN76370.1
    genomic AY158100.1 AAN76371.1
    genomic AY158101.1 AAN76372.1
    genomic AY158102.1 AAN76373.1
    genomic AY158103.1 AAN76374.1
    genomic AY158104.1 AAN76375.1
    genomic AY158105.1 AAN76376.1
    genomic AY158106.1 AAN76377.1
    genomic AY158107.1 AAN76378.1
    genomic AY158108.1 AAN76379.1
    genomic AY158109.1 AAN76380.1
    genomic AY158110.1 AAN76381.1
    genomic AY158111.1 AAN76382.1
    genomic AY158112.1 AAN76383.1
    genomic AY158113.1 AAN76384.1
    genomic AY158114.1 AAN76385.1
    genomic AY158115.1 AAN76386.1
    genomic AY158116.1 AAN76387.1
    genomic AY158117.1 AAN76388.1
    genomic AY158118.1 AAN76389.1
    genomic AY158119.1 AAN76390.1
    genomic AY158120.1 AAN76391.1
    genomic AY158121.1 AAN76392.1
    genomic AY158122.1 AAN76393.1
    genomic AY158123.1 AAN76394.1
    genomic AY158124.1 AAN76395.1
    genomic AY158125.1 AAN76396.1
    genomic AY158126.1 AAN76397.1
    genomic AY158127.1 AAN76398.1
    genomic AY158128.1 AAN76399.1
    genomic AY158129.1 AAN76400.1
    genomic AY158130.1 AAN76401.1
    genomic AY158131.1 AAN76402.1
    genomic AY158132.1 AAN76403.1
    genomic AY158133.1 AAN76404.1
    genomic AY158134.1 AAN76405.1
    genomic AY158135.1 AAN76406.1
    genomic AY158136.1 AAN76407.1
    genomic AY158137.1 AAN76408.1
    genomic AY158138.1 AAN76409.1
    genomic AY158139.1 AAN76410.1
    genomic AY158140.1 AAN76411.1
    genomic AY158141.1 AAN76412.1
    genomic AY158142.1 AAN76413.1
    genomic CH471172.2 EAW72682.1
      EAW72683.1
      EAW72684.1
      EAW72685.1
      EAW72686.1
      EAW72687.1
    genomic DQ173568.1 ABB90566.1
    genomic DQ173592.1 ABC25732.1
    genomic DQ173593.1 ABC25737.1
    genomic DQ173594.1 ABC25742.1
    genomic DQ173595.1 ABC25747.1
    genomic DQ173596.1 ABC25752.1
    genomic DQ173597.1 ABC25757.1
    genomic DQ173598.1 ABC25761.1
    genomic DQ173599.1 ABC25766.1
    genomic DQ173600.1 ABC25771.1
    genomic DQ173601.1 ABC25776.1
    genomic DQ173602.1 ABC25781.1
    genomic DQ173603.1 ABC25786.1
    genomic DQ173604.1 ABC25791.1
    genomic DQ173605.1 ABC25796.1
    genomic DQ173606.1 ABC25801.1
    genomic DQ173607.1 ABC25806.1
    genomic DQ173608.1 ABC25811.1
    genomic DQ173609.1 ABC25816.1
    genomic DQ173610.1 ABC25821.1
    genomic DQ173611.1 ABC25826.1
    genomic DQ173612.1 ABC25831.1
    genomic DQ173613.1 ABC25836.1
    genomic DQ173614.1 ABC25841.1
    genomic DQ173615.1 ABC25846.1
    genomic DQ173616.1 ABC25851.1
    genomic DQ173617.1 ABC25856.1
    genomic DQ173618.1 ABC25861.1
    genomic DQ173619.1 ABC25866.1
    genomic DQ173620.1 ABC25871.1
    genomic DQ173621.1 ABC25876.1
    genomic DQ173622.1 ABC25881.1
    genomic DQ173623.1 ABC25886.1
    genomic DQ173624.1 ABC25891.1
    genomic DQ173625.1 ABC25896.1
    genomic DQ173626.1 ABC25901.1
    genomic DQ173627.1 ABC25906.1
    genomic DQ173628.1 ABC25911.1
    genomic DQ173629.1 ABC25916.1
    genomic DQ173630.1 ABC25921.1
    genomic DQ173631.1 ABC25926.1
    genomic DQ173632.1 ABC25931.1
    genomic DQ173633.1 ABC25936.1
    genomic DQ173634.1 ABC25941.1
    genomic DQ173635.1 ABC25946.1
    genomic DQ173636.1 ABC25951.1
    genomic DQ173637.1 ABC25956.1
    genomic DQ173638.1 ABC25961.1
    genomic DQ173639.1 ABC25966.1
    genomic DQ173640.1 ABC25971.1
    genomic DQ173641.1 ABC25976.1
    genomic DQ173642.1 ABC25981.1
    genomic DQ832766.1 ABH03569.1
    genomic FB718764.1 CAS91929.1
    genomic FB719134.1 CAS92163.1
    genomic HB869941.1 CBF59097.1
    genomic HC892663.1 CBN60799.1
    genomic HC895939.1 CBN62406.1
    genomic HC898862.1 CBN63835.1
    genomic HC899672.1 CBN64257.1
    genomic HC903214.1 CBN66061.1
    genomic HC908383.1 CBN68546.1
    genomic HC915319.1 CBN71894.1
    genomic HC927350.1 CBU84341.1
    genomic L44140.1 AAA92653.1
    genomic M23423.1 AAB59390.1
    genomic M65234.1 AAA63175.1
    genomic S64462.1 AAB20299.1
    genomic X53815.1 CAA37811.1
    genomic X55448.1 CAA39089.1
    mRNA AK292304.1 BAF84993.1
    mRNA AK302341.1 BAG63669.1
    mRNA AL560686.3 None
    mRNA BC000337.2 AAH00337.1
    mRNA M19866.1 AAA52501.1
    mRNA M21248.1 AAA52500.1
    mRNA M27940.1 AAA52504.1
    mRNA S58359.1 AAB26169.1
    mRNA X03674.1 CAA27309.1
    other-genetic DQ892219.2 ABM83145.1
    other-genetic DQ895415.2 ABM86341.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11413.4 GenPept UniProtKB/Swiss-Prot:P11413
    Q0PHS1 GenPept UniProtKB/TrEMBL:Q0PHS1
    Q0PHS4 GenPept UniProtKB/TrEMBL:Q0PHS4
    Q2Q9B7 GenPept UniProtKB/TrEMBL:Q2Q9B7
    Q2Q9H2 GenPept UniProtKB/TrEMBL:Q2Q9H2
    Q2VF42 GenPept UniProtKB/TrEMBL:Q2VF42
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    Additional Links

    Additional Links

    Gene LinkOut

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