Gene
h6pd
- ID
- ZDB-GENE-110408-60
- Name
- hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
- Symbol
- h6pd Nomenclature History
- Previous Names
-
- si:dkey-148l2.3
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable glucose-6-phosphate dehydrogenase activity. Predicted to be involved in glucose metabolic process and pentose-phosphate shunt, oxidative branch. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis. Orthologous to human H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cortisone reductase deficiency 1 | Alliance | Cortisone reductase deficiency 1 | 604931 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR019796 | Glucose-6-phosphate dehydrogenase, active site |
| Domain | IPR005900 | 6-phosphogluconolactonase, DevB-type |
| Domain | IPR006148 | Glucosamine/galactosamine-6-phosphate isomerase |
| Domain | IPR022674 | Glucose-6-phosphate dehydrogenase, NAD-binding |
| Domain | IPR022675 | Glucose-6-phosphate dehydrogenase, C-terminal |
| Family | IPR001282 | Glucose-6-phosphate dehydrogenase |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
| Homologous_superfamily | IPR037171 | NagB/RpiA transferase-like |
Domain Details Per Protein
| Protein | Length | 6-phosphogluconolactonase, DevB-type | Glucosamine/galactosamine-6-phosphate isomerase | Glucose-6-phosphate dehydrogenase | Glucose-6-phosphate dehydrogenase, active site | Glucose-6-phosphate dehydrogenase, C-terminal | Glucose-6-phosphate dehydrogenase, NAD-binding | NAD(P)-binding domain superfamily | NagB/RpiA transferase-like |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FGT2
|
791 |
Interactions and Pathways
No data available
Plasmids
No data available