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

Gene ID: 2539, updated on 14-Jun-2018
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]
Expression
Broad expression in testis (RPKM 38.1), bone marrow (RPKM 27.2) and 23 other tissues See more
Orthologs
See G6PD in Genome Data Viewer
Location:
Xq28
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 G6PD and IKBKG intron CAGE-defined low expression enhancer Neighboring gene origin of replication in promoter of G6PD Neighboring gene inhibitor of nuclear factor kappa B kinase subunit gamma Neighboring gene IKBKG recombination region Neighboring gene IKBKG downstream recombination region

  • 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
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Chlorpropamide response
MedGen: CN427423 GeneReviews: Not available
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Favism, susceptibility to
MedGen: C1851319 OMIM: 134700 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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Glyburide response
MedGen: CN437679 GeneReviews: Not available
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Pegloticase response
MedGen: CN575653 GeneReviews: Not available
not available
Rasburicase response
MedGen: CN078005 GeneReviews: Not available
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Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
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Tolbutamide response
MedGen: C4016718 GeneReviews: Not available
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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 HEP 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 HDA PubMed 
membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glucose-6-phosphate 1-dehydrogenase
NP_000393.4
NP_001035810.1
NP_001346945.1

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
    UniProtKB/Swiss-Prot
    P11413
    Related
    ENSP00000377192.2, OTTHUMP00000026034, ENST00000393562.7, 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 (1) summary
    TIGR00871
    Location:30506
    zwf; glucose-6-phosphate 1-dehydrogenase
  3. NM_001360016.1NP_001346945.1  glucose-6-phosphate 1-dehydrogenase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. 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, M27940
    Consensus CDS
    CCDS44023.1
    Related
    ENSP00000483686.1, ENST00000621232.4
    Conserved Domains (1) summary
    TIGR00871
    Location:30506
    zwf; glucose-6-phosphate 1-dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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