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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:0014667 | disease of metabolism | |
| DOID:0050674 | congenital bile acid synthesis defect | |
| DOID:0060262 | gallbladder disease | |
| DOID:0111029 | hemochromatosis type 1 | |
| DOID:0111069 | congenital bile acid synthesis defect 2 | |
| DOID:10607 | tropical sprue | |
| DOID:11476 | osteoporosis | |
| DOID:11847 | coronary thrombosis | |
| DOID:1247 | blood coagulation disease | |
| DOID:12549 | hepatitis A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0002240 | Hepatomegaly |
| HP:0002570 | Steatorrhea |
| HP:0002630 | Fat malabsorption |
| HP:0002748 | Rickets |
| HP:0002904 | Hyperbilirubinemia |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003256 | Abnormality of the coagulation cascade |
| 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 |
|---|---|---|---|
| 101873803 | MELUD03366 | ||
| 100022753 | MONDO35010 | ||
| 102453451 | PELSI10232 | ||
| 100555605 | ANOCA06812 | ||
| 107094041 | CYPVA18664 | ||
| 107094558 | CYPVA19255 | ||
| 103669050 | URSMA20245 | ||
| 114028061 | VOMUR21422 | ||
| 113891162 | BOBOX16648 | ||
| 102545225 | VICPA09838 |
