H6PD Gene Summary [Human]
There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | H6PD |
| Official Name | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Source:HGNC Symbol;Acc:HGNC:4795] |
| Ensembl ID | ENSG00000049239 |
| Bio databases IDs | |
| Aliases | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase, GDH/6PGL endoplasmic bifunctional protein, 6-phosphogluconolactonase |
| Synonyms | BC009563, CORTRD1, G6PD1, G6PDH, GDH, Gpd-1, H6PDH, hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase), hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase |
| 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 H6PD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SugarP_isomerase
- glucose 1-dehydrogenase
- Glucose-6-phosphate dehydrogenase, C-terminal domain
- Glucose-6-phosphate dehydrogenase, NAD binding domain
- NADP binding
- glucose-6-phosphate 1-dehydrogenase
- 6-phosphogluconolactonase
- Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase
- enzyme
- carbohydrate binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- deficiency of (r)-20-hydroxysteroid dehydrogenase
- weight gain
- centronuclear myopathy
- hypoglycemia
role in cell
- expression in
- activation in
- depletion in
- abnormal morphology
- cell viability
- vacuolation in
- vacuolation
- conversion in
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
- sarcoplasmic reticulum
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- microsome
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human H6PD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pentose-phosphate shunt, oxidative branch
- regulation of cortisol biosynthetic process
- response to alcohol
- glucose metabolic process
- response to nutrient levels
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- NADP binding
- 6-phosphogluconolactonase activity
- carbohydrate binding
- glucose 1-dehydrogenase [NAD(P)] activity
- glucose 1-dehydrogenase (NADP+) activity
- glucose 1-dehydrogenase (NAD+) activity
- glucose-6-phosphate dehydrogenase activity