Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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: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 |
|---|---|---|---|
| 115196975 | SALTR11623 | ||
| 115550949 | GADMO61517 | ||
| 103465917 | POERE28289 | ||
| 101170970 | ORYLA10928 | ||
| 100710661 | ORENI69919 | ||
| 109194203 | ORENI26245 | ||
| 102293767 | HAPBU12948 | ||
| 113026470 | ASTCA37845 | ||
| 399023 | Xenbase:XB-GENE-17341435 | ||
| 734699 | Xenbase:XB-GENE-947172 |
