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

Gene ID: 2539, updated on 3-Nov-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
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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: 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mediterranean glucose-6-phosphate dehydrogenase (G6PD(C563T)) mutation among Jordanian females with acute hemolytic crisis. Al-Alimi AA, et al. J Coll Physicians Surg Pak, 2010 Dec. PMID 21205543
  2. Frequency of Mediterranean mutation among a group of Saudi G6PD patients in Western region-Jeddah. Gari MA, et al. Int J Lab Hematol, 2010 Feb. PMID 20447239
  3. Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia. Nouraie M, et al. Br J Haematol, 2010 Jul. PMID 20507315, Free PMC Article
  4. The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. Leslie T, et al. PLoS Med, 2010 May 25. PMID 20520804, Free PMC Article
  5. Restriction fragment length polymorphism (RFLP) of the X chromosome linked glucose-6-phosphate dehydrogenase (G6PD) locus in India. Chalvam R, et al. Ann Hum Biol, 2011 Jan. PMID 20528626

See all (547) 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-κB/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
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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
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Malaria, susceptibility to
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
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Pegloticase response
MedGen: CN575653 GeneReviews: Not available
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Primaquine response
MedGen: CN322745 GeneReviews: Not available
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Rasburicase response
MedGen: CN078005 GeneReviews: Not available
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Tafenoquine response
MedGen: CN262925 GeneReviews: Not available
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Tolbutamide response
MedGen: C4016718 GeneReviews: Not available
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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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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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