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

    Gene ID: 2539, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:4057
    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; CNSHA1
    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]
    Expression
    Broad expression in testis (RPKM 38.1), bone marrow (RPKM 27.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See G6PD in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154531390..154547569, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152767773..152783952, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153759605..153775784, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 697, pseudogene Neighboring gene FAM3 metabolism regulating signaling molecule A Neighboring gene uncharacterized LOC124905229 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153743824-153744447 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153744448-153745070 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153745046-153745202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30065 Neighboring gene Sharpr-MPRA regulatory region 11639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153762224-153762818 Neighboring gene G6PD and IKBKG intron CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153774097-153774640 Neighboring gene origin of replication in promoter of G6PD Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30067 Neighboring gene inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Neighboring gene IKBKG recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153792215-153792716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153792717-153793216 Neighboring gene IKBKG downstream recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153798001-153798800 Neighboring gene family with sequence similarity 223 member A Neighboring gene activating transcription factor 4 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Rapid detection of G6PD mutations by multicolor melting curve analysis. Xia Z, et al. Mol Genet Metab, 2016 Sep. PMID 27495838
    2. Glucose-6-Phosphate Dehydrogenase Deficiency in Brazilian Children With Sickle Cell Anemia is not Associated With Clinical Ischemic Stroke or High-Risk Transcranial Doppler. Belisário AR, et al. Pediatr Blood Cancer, 2016 Jun. PMID 26840990
    3. Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China. Deng C, et al. Pediatr Int, 2007 Aug. PMID 17587269
    4. Glucose-6-phosphate dehydrogenase polymorphism and lymphoma risk. Cocco P, et al. Tumori, 2007 Mar-Apr. PMID 17557555
    5. Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population. Haloui S, et al. Ann Biol Clin (Paris), 2016 Mar-Apr. PMID 27029726

    See all (548) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
      Title: Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
    2. Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.
      Title: Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.
    3. Brucella induced upregulation of NO promote macrophages glycolysis through the NF-kappaB/G6PD pathway.
      Title: Brucella induced upregulation of NO promote macrophages glycolysis through the NF-ÎşB/G6PD pathway.
    4. Adaptive selection at G6PD and disparities in diabetes complications.
      Title: Adaptive selection at G6PD and disparities in diabetes complications.
    5. Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
      Title: Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
    6. Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies.
      Title: Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies.
    7. The global role of G6PD in infection and immunity.
      Title: The global role of G6PD in infection and immunity.
    8. Multi-omics analyses of G6PD deficiency variants in Chinese population.
      Title: Multi-omics analyses of G6PD deficiency variants in Chinese population.
    9. Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.
      Title: Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.
    10. Associations between COVID-19 and Glucose-6-Phosphate Dehydrogenase Activity in Brazil.
      Title: Associations between COVID-19 and Glucose-6-Phosphate Dehydrogenase Activity in Brazil.
    Submit: New GeneRIF Correction See all GeneRIFs (347)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency
    MedGen: C2720289 OMIM: 300908 GeneReviews: Not available
    		Compare labs
    Chlorpropamide response
    MedGen: CN427423 GeneReviews: Not available
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    Glibenclamide response
    MedGen: CN437679 GeneReviews: Not available
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    Glimepiride response
    MedGen: CN437678 GeneReviews: Not available
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    Glipizide response
    MedGen: C1832730 GeneReviews: Not available
    		Compare labs
    Malaria, susceptibility to
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    		Compare labs
    Pegloticase response
    MedGen: CN575653 GeneReviews: Not available
    		Compare labs
    Primaquine response
    MedGen: CN322745 GeneReviews: Not available
    		Compare labs
    Rasburicase response
    MedGen: CN078005 GeneReviews: Not available
    		Compare labs
    Tafenoquine response
    MedGen: CN262925 GeneReviews: Not available
    		Compare labs
    Tolbutamide response
    MedGen: C4016718 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables D-glucose binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose-6-phosphate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucose-6-phosphate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose-6-phosphate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NADP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in NADPH regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glucose 6-phosphate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose 6-phosphate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glutathione metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein glutathionylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pentose biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt, oxidative branch IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pentose-phosphate shunt, oxidative branch IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to iron(III) ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribose phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    glucose-6-phosphate 1-dehydrogenase
    Names
    epididymis secretory sperm binding protein
    NP_000393.4
    NP_001035810.1
    NP_001346945.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_000402.4 → NP_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
      UniProtKB/TrEMBL
      A8K8D9
      Conserved Domains (1) summary
      TIGR00871
      Location:60 → 536
      zwf; glucose-6-phosphate 1-dehydrogenase

    2. NM_001042351.3 → NP_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
      Consensus CDS
      CCDS44023.1
      UniProtKB/Swiss-Prot
      D3DWX9, P11413, Q16000, Q16765, Q8IU70, Q8IU88, Q8IUA6, Q96PQ2
      UniProtKB/TrEMBL
      A0A384NL00, A8K8D9
      Related
      ENSP00000377194.2, ENST00000393564.7
      Conserved Domains (1) summary
      TIGR00871
      Location:30 → 506
      zwf; glucose-6-phosphate 1-dehydrogenase

    3. NM_001360016.2 → NP_001346945.1  glucose-6-phosphate 1-dehydrogenase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the transcription from the strong CAGE cluster (p1@G6PD). The encoded protein (isoform b) reflects an additional coding region annotated on the same transcript based on CAGE data, and represents the use of a downstream in-frame start codon.
      Source sequence(s)
      BC000337, HY078785
      Consensus CDS
      CCDS44023.1
      UniProtKB/Swiss-Prot
      D3DWX9, P11413, Q16000, Q16765, Q8IU70, Q8IU88, Q8IUA6, Q96PQ2
      UniProtKB/TrEMBL
      A0A384NL00, A8K8D9
      Related
      ENSP00000377192.3, ENST00000393562.10
      Conserved Domains (1) summary
      TIGR00871
      Location:30 → 506
      zwf; glucose-6-phosphate 1-dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154531390..154547569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152767773..152783952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11413.4 GenPept UniProtKB/Swiss-Prot:P11413

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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