G6PD

Protein identityUniProt · HPA

UniProt accession

P11413

Gene

G6PD

Ensembl

ENSG00000160211

Chromosome

X

Canonical length

515 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Centriolar satellite,Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

515 residues, UniProt reviewed canonical sequence.

>P11413|G6PD
     1  MAEQVALSRT QVCGILREEL FQGDAFHQSD THIFIIMGAS GDLAKKKIYP TIWWLFRDGL
    61  LPENTFIVGY ARSRLTVADI RKQSEPFFKA TPEEKLKLED FFARNSYVAG QYDDAASYQR
   121  LNSHMNALHL GSQANRLFYL ALPPTVYEAV TKNIHESCMS QIGWNRIIVE KPFGRDLQSS
   181  DRLSNHISSL FREDQIYRID HYLGKEMVQN LMVLRFANRI FGPIWNRDNI ACVILTFKEP
   241  FGTEGRGGYF DEFGIIRDVM QNHLLQMLCL VAMEKPASTN SDDVRDEKVK VLKCISEVQA
   301  NNVVLGQYVG NPDGEGEATK GYLDDPTVPR GSTTATFAAV VLYVENERWD GVPFILRCGK
   361  ALNERKAEVR LQFHDVAGDI FHQQCKRNEL VIRVQPNEAV YTKMMTKKPG MFFNPEESEL
   421  DLTYGNRYKN VKLPDAYERL ILDVFCGSQM HFVRSDELRE AWRIFTPLLH QIELEKPKPI
   481  PYIYGSRGPT EADELMKRVG FQYEGTYKWV NPHKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against G6PD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

79 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about G6PD.

Disease | AllUniProt

Conditions G6PD is implicated in, by any mechanism.

• Anemia, congenital, non-spherocytic hemolytic, 1 (CNSHA1) MIM:300908

Disease | GeneticClinVar

230 pathogenic / likely-pathogenic of 875 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Anemia, nonspherocytic hemolytic, due to G6PD deficiency
• Malaria, susceptibility to
• G6PD deficiency
• Inborn genetic diseases
• G6PD-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.32

gnomAD pLI

0.97

gnomAD missense Z

2

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to oxidative stress
• cholesterol biosynthetic process
• erythrocyte maturation
• glucose 6-phosphate metabolic process
• glucose metabolic process
• glutathione metabolic process
• lipid metabolic process
• NADP+ metabolic process
• negative regulation of cell growth involved in cardiac muscle cell development
• negative regulation of reactive oxygen species metabolic process
• pentose biosynthetic process
• pentose-phosphate shunt
• pentose-phosphate shunt, oxidative branch
• positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
• regulation of neuron apoptotic process
• response to ethanol
• response to food
• response to iron(III) ion
• substantia nigra development
• ribose phosphate biosynthetic process

Molecular functions

• D-glucose binding
• glucose-6-phosphate dehydrogenase activity
• identical protein binding
• NADP binding
• protein homodimerization activity

Cellular components

• centriolar satellite
• cytoplasm
• cytoplasmic side of plasma membrane
• cytosol
• extracellular exosome
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glucose-6-phosphate dehydrogenase
• Glucose-6-phosphate dehydrogenase, active site
• Glucose-6-phosphate dehydrogenase, NAD-binding
• Glucose-6-phosphate dehydrogenase, C-terminal
• NAD(P)-binding domain superfamily
• Glucose-6-phosphate dehydrogenase, NAD binding domain
• Glucose-6-phosphate dehydrogenase, C-terminal domain

KeywordsUniProt

• Acetylation
• Carbohydrate metabolism
• Cytoplasm
• Glucose metabolism
• Hereditary hemolytic anemia
• Hydroxylation
• Membrane
• NADP
• Oxidoreductase
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of G6PD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SIRT2
• HSPA8