G6PD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | G6PD |
| Official Name | glucose-6-phosphate dehydrogenase [Source:HGNC Symbol;Acc:HGNC:4057] |
| Ensembl ID | ENSG00000160211 |
| Bio databases IDs | |
| Aliases | glucose-6-phosphate dehydrogenase |
| Synonyms | CNSHA1, G28A, G6PD1, G6PDX, Glucose-6-P Dehydrogenase, Glucose-6-phosphate 1-dehydrogenase, glucose-6-phosphate dehydrogenase, glucose-6-phosphate dehydrogenase X-linked, Gpdx |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human G6PD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glucose-6-phosphate dehydrogenase, C-terminal domain
- Glucose-6-phosphate dehydrogenase, NAD binding domain
- NADP binding
- glucose-6-phosphate 1-dehydrogenase
- protein homodimerization
- glucose binding
- enzyme
- protein binding
- carbohydrate binding
- identical protein binding
Pathways
Biological processes and signaling networks where the G6PD gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hypertension
- anemia
- neoplasia
- nonspherocytic hemolytic anemia due to G6PD deficiency
- prostate cancer
- breast carcinoma
- hereditary disorder
- glucosephosphate dehydrogenase deficiency
- Alzheimer disease
role in cell
- proliferation
- expression in
- apoptosis
- phosphorylation in
- invasion by
- cell death
- production in
- binding in
- glycolysis in
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cell periphery
- Nucleus
- centrosome
- microtubule organizing centers
- cytosol
- cytoplasmic face of plasma membrane
- cytoplasmic droplets
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human G6PD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to food
- response to iron(III) ion
- pentose-phosphate shunt, oxidative branch
- negative regulation of cell growth involved in cardiac muscle cell development
- pentose-phosphate shunt
- cholesterol biosynthetic process
- NADPH regeneration
- response to organic cyclic compound
- glucose metabolic process
- regulation of neuron apoptotic process
- substantia nigra development
- erythrocyte maturation
- response to ethanol
- glucose 6-phosphate metabolic process
- glutathione metabolic process
- lipid metabolic process
- NADP metabolic process
- pentose biosynthetic process
- cellular response to oxidative stress
- negative regulation of protein glutathionylation
- ribose phosphate biosynthetic process
- negative regulation of reactive oxygen species metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- centriolar satellite
- intracellular membrane-bounded organelle
- membrane
- cytosol
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- glucose binding
- identical protein binding
- NADP binding
- protein binding
- protein homodimerization activity
- glucose-6-phosphate dehydrogenase activity