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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AKR1D1
aldo-keto reductase family 1 member D1
Chromosome 7 · 7q33
NCBI Gene: 6718Ensembl: ENSG00000122787.16HGNC: HGNC:388UniProt: P51857
48PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bile acid biosynthetic processprotein bindingcholesterol catabolic processdigestioncongenital bile acid synthesis defect 2Congenital bile acid synthesis defect type 2liver failurecholestasis
✦AI Summary

AKR1D1 (aldo-keto reductase family 1 member D1) is a steroid 5β-reductase predominantly expressed in human liver that serves critical roles in bile acid biosynthesis and steroid hormone metabolism 1. The enzyme catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond in steroid substrates, creating an A/B cis-ring junction essential for bile acid function as emulsifiers 2. AKR1D1 inactivates glucocorticoids and androgens, with overexpression increasing steroid clearance and decreasing glucocorticoid receptor activation, while knockdown has opposite effects 3. The enzyme exists as multiple splice variants, with AKR1D1-002 being the predominant functional form in liver 4. AKR1D1 expression is significantly decreased in non-alcoholic fatty liver disease (NAFLD), correlating with advancing steatosis and fibrosis 5. Knockdown of AKR1D1 promotes hepatocyte lipid accumulation and inflammation through disrupted bile acid synthesis 5. Recent studies reveal AKR1D1's role in liver cancer suppression by regulating bile acid metabolism and NK cell cytotoxicity 6. Mutations in AKR1D1 cause congenital bile acid synthesis defect 2, leading to cholestasis and potential liver damage 1. Certain anabolic steroids can inhibit AKR1D1 activity, potentially contributing to steroid-induced hepatotoxicity 7.

Sources cited
1
AKR1D1 is a member of the aldo-keto reductase superfamily involved in steroid metabolism and bile acid deficiency
PMID: 25304492
2
AKR1D1 catalyzes stereospecific reduction creating A/B cis-ring junction essential for bile acid function
PMID: 24513054
3
AKR1D1 regulates glucocorticoid availability and receptor activation in hepatocytes
PMID: 30769091
4
Multiple AKR1D1 splice variants exist with differential expression and activity
PMID: 33502336
5
AKR1D1 expression decreases in NAFLD and its knockdown promotes hepatic steatosis
PMID: 31330134
6
AKR1D1 suppresses liver cancer by promoting NK cell cytotoxicity through bile acid metabolism
PMID: 40010348
7
Anabolic steroids can inhibit AKR1D1 activity, potentially causing hepatotoxicity
PMID: 37451653
Disease Associationsⓘ21
congenital bile acid synthesis defect 2Open Targets
0.81Strong
Congenital bile acid synthesis defect type 2Open Targets
0.69Moderate
liver failureOpen Targets
0.47Moderate
cholestasisOpen Targets
0.46Moderate
Hepatic failureOpen Targets
0.46Moderate
Congenital bile acid synthesis defectOpen Targets
0.44Moderate
alcohol drinkingOpen Targets
0.39Weak
injuryOpen Targets
0.32Weak
viral pneumoniaOpen Targets
0.30Weak
temporomandibular joint disorderOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
response to stimulusOpen Targets
0.11Weak
glomerulonephritisOpen Targets
0.09Suggestive
adverse effectOpen Targets
0.08Suggestive
Phenotypic abnormalityOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.04Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Congenital bile acid synthesis defect 2UniProt
Pathogenic Variants25
NM_005989.4(AKR1D1):c.261+1G>TLikely pathogenic
not provided
★★☆☆2025
NM_005989.4(AKR1D1):c.919C>T (p.Arg307Cys)Likely pathogenic
not provided|Congenital bile acid synthesis defect 2
★★☆☆2025→ Residue 307
NM_005989.4(AKR1D1):c.864del (p.Ser290fs)Likely pathogenic
Congenital bile acid synthesis defect 2
★★☆☆2024→ Residue 290
NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)Pathogenic
Congenital bile acid synthesis defect 2|Congenital bile acid synthesis defect
★★☆☆2024→ Residue 261
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)Pathogenic
Congenital bile acid synthesis defect 2
★★☆☆2024→ Residue 266
NM_005989.4(AKR1D1):c.262-1G>TLikely pathogenic
not provided
★★☆☆2024
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)Pathogenic
not provided|Congenital bile acid synthesis defect 2
★★☆☆2024→ Residue 50
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)Pathogenic
not provided|Congenital bile acid synthesis defect 2
★★☆☆2024→ Residue 195
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)Pathogenic
Congenital bile acid synthesis defect 2
★★☆☆2020→ Residue 266
NM_005989.4(AKR1D1):c.350dup (p.Tyr117Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 117
NM_005989.4(AKR1D1):c.158A>G (p.Asp53Gly)Likely pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2025→ Residue 53
NM_005989.4(AKR1D1):c.580-13T>APathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2025
NM_005989.4(AKR1D1):c.238del (p.Glu80fs)Pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2025→ Residue 80
NM_005989.4(AKR1D1):c.261+2T>CLikely pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2024
NM_005989.4(AKR1D1):c.174_175del (p.Tyr58_Gln59delinsTer)Likely pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2024→ Residue 58
NM_005989.4(AKR1D1):c.141_142del (p.Gly48fs)Likely pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2023→ Residue 48
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)Likely pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2023→ Residue 314
NM_005989.4(AKR1D1):c.579+2_579+4delinsALikely pathogenic
AKR1D1-related disorder
★☆☆☆2023
NM_005989.4(AKR1D1):c.689+1G>ALikely pathogenic
not provided
★☆☆☆2023
NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter)Pathogenic
Congenital bile acid synthesis defect 2
★☆☆☆2020→ Residue 89
View on ClinVar ↗
Related Genes
HSD3B7Protein interaction100%AKR1C3Protein interaction98%HSD11B1Protein interaction98%HSD11B2Protein interaction98%CYP8B1Protein interaction96%SRD5A3Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AKR1D1HSD3B7AKR1C3HSD11B1HSD11B2CYP8B1SRD5A3
PROTEIN STRUCTURE
Preparing viewer…
PDB3BUV · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.16]
RankingsWhere AKR1D1 stands among ~20K protein-coding genes
  • #9,038of 20,598
    Most Researched48
  • #1,986of 5,498
    Most Pathogenic Variants25
  • #12,074of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedAKR1D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AKR1D1 suppresses liver cancer progression by promoting bile acid metabolism-mediated NK cell cytotoxicity.
PMID: 40010348
Cell Metab · 2025
1.00
2
The aldo-keto reductases (AKRs): Overview.
PMID: 25304492
Chem Biol Interact · 2015
0.90
3
5β-Reduced steroids and human Δ(4)-3-ketosteroid 5β-reductase (AKR1D1).
PMID: 24513054
Steroids · 2014
0.80
4
AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells.
PMID: 30769091
J Steroid Biochem Mol Biol · 2019
0.70
5
Differential activity and expression of human 5β-reductase (AKR1D1) splice variants.
PMID: 33502336
J Mol Endocrinol · 2021
0.60