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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aldo-keto reductase family 1 member D1
Summary
- Gene Symbol
-
- AKR1D1
- Aliases
-
- delta 4-3-ketosteroid-5-beta-reductase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Bile acid catabolism
- Cytoplasm
- Disease variant
- Intrahepatic cholestasis
- NADP
- Oxidoreductase
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| P51857 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| C21-steroid hormone metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| delta4-3-oxosteroid 5beta-reductase activity | ||
| alditol:NADP+ 1-oxidoreductase activity | ||
| steroid binding |
|
|
| aldo-keto reductase (NADP) activity |
|
|
| ketosteroid monooxygenase activity |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2739 | Gilbert syndrome | |
| DOID:2741 | bilirubin metabolic disorder | |
| DOID:409 | liver disease | |
| DOID:5844 | myocardial infarction | |
| DOID:5854 | silent myocardial infarction | |
| DOID:7148 | rheumatoid arthritis | |
| DOID:758 | situs inversus | |
| DOID:893 | Wilson disease | |
| DOID:9351 | diabetes mellitus | |
| DOID:9352 | type 2 diabetes mellitus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000107 | Renal cyst |
| HP:0000952 | Jaundice |
| HP:0001396 | Cholestasis |
| HP:0001397 | Hepatic steatosis |
| HP:0001399 | Hepatic failure |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| HP:0001978 | Extramedullary hematopoiesis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79303 |
|
| OMIM:235555 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001665
- Gene Name
- aldo-keto reductase family 1, member D1
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 112907014 | VULVU32638 | ||
| 123788904 | URSAM29107 | ||
| 100483237 | AILME17877 | ||
| 101687850 | MUSPF17984 | ||
| 101100551 | FELCA03568 | ||
| 122212147 | PANLE23261 | ||
| 101322385 | TURTR00879 | ||
| 118900399 | BALMU12002 | ||
| 100665738 | LOXAF04021 | ||
| 100520813 | PIGXX12481 |
