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MIRAGE
aldo-keto reductase family 1 member D1

Summary
Gene Symbol
  • AKR1D1
Aliases
  • delta 4-3-ketosteroid-5-beta-reductase
Organism
Homo sapiens (human)
NCBI Gene
6718
HGNC
388
KEGG Gene ID
PubChem
6718
Alliance of Genome Resources
JoGo
AKR1D1
TogoVar
AKR1D1
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Bile acid catabolism
  • Cytoplasm
  • Disease variant
  • Intrahepatic cholestasis
  • NADP
  • Oxidoreductase
  • Proteomics identification
  • 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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 12 in total
GO Term Evidence Code PMID
bile acid biosynthetic process
bile acid biosynthetic process
bile acid biosynthetic process
cholesterol catabolic process
digestion
GO Hierarchy
Displaying all 4 entries
GO Term Evidence Code PMID
cytoplasm
cytosol
cytosol
cytosol
GO Hierarchy
Displaying entries 1 - 5 of 9 in total
GO Term Evidence Code PMID
aldose reductase (NADPH) activity
steroid binding
protein binding
alcohol dehydrogenase (NADP+) activity
alcohol dehydrogenase (NADP+) activity
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
KEGG BRITE Database
Orthology
K00251
Name
3-oxo-5-beta-steroid 4-dehydrogenase [EC:1.3.1.3]
References
Rhea

RHEA:46636

5β-dihydrotestosterone + NADP+
H+ + testosterone + NADPH
Enzyme
PMID

RHEA:54412

a 3-oxo-5β-steroid + NADP+
H+ + a 3-oxo-Δ4-steroid + NADPH
Enzyme
PMID

RHEA:11524

5β-cholestan-3-one + NADP+
H+ + cholest-4-en-3-one + NADPH
Enzyme
PMID

RHEA:14037

4,5β-dihydrocortisone + NADP+
H+ + cortisone + NADPH
Enzyme
PMID
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0111069 congenital bile acid synthesis defect 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
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
Displaying all 2 entries
Disease ID Disease Name
OMIM:235555
  • congenital bile acid synthesis defect 2
ORPHA:79303
  • congenital bile acid synthesis defect 2
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001665
Gene Name
aldo-keto reductase family 1, member D1
Ortholog
Displaying all 3 entries
Species Gene ID Alliance of Genome Resources
39304 FB:FBgn0086254
854287 SGD:S000005646
851974 SGD:S000002776
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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: April 6, 2026