Entity Details
| Primary name |
G6PE_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | O95479 |
| EntryName | G6PE_HUMAN |
| FullName | GDH/6PGL endoplasmic bifunctional protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 791 |
| SequenceStatus | complete |
| DateCreated | 2000-05-30 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum lumen |
Domains
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| Domain | Name | Category | Type |
| IPR001282 | Glucose-6-phosphate dehydrogenase | Family | Family |
| IPR005900 | 6-phosphogluconolactonase, DevB-type | Domain | Domain |
| IPR006148 | Glucosamine/galactosamine-6-phosphate isomerase | Domain | Domain |
| IPR019796 | Glucose-6-phosphate dehydrogenase, active site | Site | Active site |
| IPR022674 | Glucose-6-phosphate dehydrogenase, NAD-binding | Domain | Domain |
| IPR022675 | Glucose-6-phosphate dehydrogenase, C-terminal | Domain | Domain |
| IPR036291 | NAD(P)-binding domain superfamily | Family | Homologous superfamily |
| IPR037171 | NagB/RpiA transferase-like | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 604931 | OMIM | Cortisone reductase deficiency 1 (CORTRD1) | An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00157 | NADH | Drugbank | small molecule |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |