aldo-keto reductase family 1 member D1

Summary
Gene Symbol
  • AKR1D1
Aliases
  • delta 4-3-ketosteroid-5-beta-reductase
Organism
Homo sapiens (human)
External Links
NCBI Gene
6718
HGNC
388
KEGG Gene ID
hsa:6718
PubChem
6718
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Bile acid catabolism
  • Cytoplasm
  • Disease variant
  • Intrahepatic cholestasis
  • NADP
  • Oxidoreductase
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P51857
  • 3-oxo-5-beta-steroid 4-dehydrogenase
  • Delta(4)-3-ketosteroid 5-beta-reductase
  • Delta(4)-3-oxosteroid 5-beta-reductase
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
KEGG BRITE Database
Orthology
K00251
Name
3-oxo-5-beta-steroid 4-dehydrogenase [EC:1.3.1.3]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 32 in total
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
Displaying entries 21 - 29 of 29 in total
HPO ID HPO Term
HP:0003623 Neonatal onset
HP:0003645 Prolonged partial thromboplastin time
HP:0006579 Prolonged neonatal jaundice
HP:0008151 Prolonged prothrombin time
HP:0008897 Postnatal growth retardation
HP:0011040 Abnormal intrahepatic bile duct morphology
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0100513 Decreased circulating vitamin E concentration
HP:0200084 Giant cell hepatitis
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79303
  • congenital bile acid synthesis defect 2
OMIM:235555
  • congenital bile acid synthesis defect 2
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001665
Gene Name
aldo-keto reductase family 1, member D1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024