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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 |
|---|---|---|
| cholesterol catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| steroid binding |
|
|
| delta4-3-oxosteroid 5beta-reductase activity | ||
| alditol:NADP+ 1-oxidoreductase activity | ||
| steroid dehydrogenase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- aldo-keto
- Functional Category
-
- C: Energy production and conversion
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
| Gene Ontology |
|---|
| alditol |
| oxidoreductase activity |
| InterPro |
|---|
| Aldo-keto reductase |
| Aldo/keto reductase, conserved site |
| NADP-dependent oxidoreductase domain superfamily |
| NADP-dependent oxidoreductase domain |
KEGG BRITE Database
Rhea
Disease
- 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 |
|---|---|
| OMIM:235555 |
|
| ORPHA:79303 |
|
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 | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 39304 | FB:FBgn0086254 | |||
| 39305 | FB:FBgn0036183 | |||
| 175047 | WB:WBGene00012722 | |||
| 192242 | RGD:620752 | RATNO30572 | ||
| 208665 | MGI:2384785 | MOUSE50602 | ||
| 399023 | Xenbase:XB-GENE-17341435 | |||
| 472607 | 9598_0:001ffb | PANTR41505 | ||
| 482711 | CANLF04397 | |||
| 513855 | BOVIN28502 | |||
| 594997 | Xenbase:XB-GENE-947167 |
