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

Gene ID: 2539, updated on 26-Aug-2014
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]
See G6PD in Epigenomics, MapViewer
Location:
Xq28
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 solute carrier family 10, 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 activating transcription factor 4 pseudogene 2 Neighboring gene cancer/testis antigen 1A

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
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 Protein 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 IDA
Inferred from Direct Assay
more info
PubMed 
glucose-6-phosphate dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
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 
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 IDA
Inferred from Direct Assay
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 
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 organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
ribose phosphate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
substantia nigra development IEP
Inferred from Expression Pattern
more info
 
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 vesicular 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
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 

    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 proteins identical to 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, OTTHUMP00000026034, ENST00000393562, OTTHUMT00000061165
    Conserved Domains (3) summary
    TIGR00871
    Location:60536
    Blast Score: 2148
    zwf; glucose-6-phosphate 1-dehydrogenase
    pfam00479
    Location:65240
    Blast Score: 714
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:242536
    Blast Score: 1464
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  2. NM_001042351.2NP_001035810.1  glucose-6-phosphate 1-dehydrogenase isoform b

    See proteins identical to 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
    Conserved Domains (3) summary
    TIGR00871
    Location:30506
    Blast Score: 2145
    zwf; glucose-6-phosphate 1-dehydrogenase
    pfam00479
    Location:35210
    Blast Score: 712
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:212506
    Blast Score: 1462
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

mRNA and Protein(s)

  1. XM_005274658.2XP_005274715.1  

    Conserved Domains (3) summary
    TIGR00871
    Location:30507
    Blast Score: 2134
    zwf; glucose-6-phosphate 1-dehydrogenase
    pfam00479
    Location:35211
    Blast Score: 713
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:213507
    Blast Score: 1462
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  2. XM_005274657.2XP_005274714.1  

    Conserved Domains (3) summary
    TIGR00871
    Location:60537
    Blast Score: 2138
    zwf; glucose-6-phosphate 1-dehydrogenase
    pfam00479
    Location:65241
    Blast Score: 715
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:243537
    Blast Score: 1464
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    142336101..142352309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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