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    G6PD glucose-6-phosphate dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 2539, updated on 22-Apr-2017
    Official Symbol
    G6PDprovided by HGNC
    Official Full Name
    glucose-6-phosphate dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4057
    See related
    Ensembl:ENSG00000160211 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]
    Orthologs
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (154531390..154547586, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153759606..153775796, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 697, pseudogene Neighboring gene family with sequence similarity 3 member A Neighboring gene inhibitor of nuclear factor kappa B kinase subunit gamma Neighboring gene family with sequence similarity 223 member A (non-protein coding) Neighboring gene activating transcription factor 4 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency
    MedGen: C2720289 OMIM: 300908 GeneReviews: Not available
    Compare labs
    Favism, susceptibility to
    MedGen: C1851319 OMIM: 134700 GeneReviews: Not available
    Compare labs
    Rasburicase response
    MedGen: CN078005 GeneReviews: Not available
    not available
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
    NHGRI GWA Catalog
    Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat upregulates the abundance of glucose-6-phosphate dehydrogenase (G6PD) in the nucleoli of Jurkat T-cells PubMed
    tat HIV-1 Tat increases the rate of transcription from the human glucose 6-phosphate dehydrogenase (G6PD) promoter and thereby activates G6PD PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of glucose-6-phosphate dehydrogenase (G6PD) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    glucose-6-phosphate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose-6-phosphate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NADP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NADPH regeneration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose 6-phosphate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose 6-phosphate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutathione metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein glutathionylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to food IEA
    Inferred from Electronic Annotation
    more info
     
    response to iron(III) ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    ribose phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    substantia nigra development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    glucose-6-phosphate 1-dehydrogenase
    NP_000393.4
    NP_001035810.1

    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_009015.2 RefSeqGene

      Range
      4987..21183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000393.4

      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)
      BC000337, BU589629, M27940, S58359
      Consensus CDS
      CCDS14756.2
      UniProtKB/Swiss-Prot
      P11413
      Related
      ENSP00000377192.2, OTTHUMP00000026034, ENST00000393562.6, OTTHUMT00000061165
      Conserved Domains (3) summary
      TIGR00871
      Location:60536
      zwf; glucose-6-phosphate 1-dehydrogenase
      pfam00479
      Location:65239
      G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
      pfam02781
      Location:242533
      G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
    2. NM_001042351.2NP_001035810.1  glucose-6-phosphate 1-dehydrogenase isoform b

      See identical proteins and their annotated locations for NP_001035810.1

      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)
      AL560686, BC000337, BU589629, DC394789
      Consensus CDS
      CCDS44023.1
      UniProtKB/Swiss-Prot
      P11413
      Related
      ENSP00000377194.2, OTTHUMP00000026039, ENST00000393564.6, OTTHUMT00000061170
      Conserved Domains (3) summary
      TIGR00871
      Location:30506
      zwf; glucose-6-phosphate 1-dehydrogenase
      pfam00479
      Location:35209
      G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
      pfam02781
      Location:212503
      G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      154531390..154547586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153671374..153687570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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