Identity
HGNC
LOCATION
7q33
LOCUSID
ALIAS
3o5bred,CBAS2,SRD5B1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6718
MIM: 604741
HGNC: 388
Ensembl: ENSG00000122787
Variants:
dbSNP: 6718
ClinVar: 6718
TCGA: ENSG00000122787
COSMIC: AKR1D1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000122787 | ENST00000242375 | P51857 |
| ENSG00000122787 | ENST00000411726 | P51857 |
| ENSG00000122787 | ENST00000432161 | P51857 |
| ENSG00000122787 | ENST00000438242 | C9J3U1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166160055 | cholic acid | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36739965 | 2023 | Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency. | 2 |
| 36739965 | 2023 | Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency. | 2 |
| 33493134 | 2021 | Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma. | 10 |
| 33502336 | 2021 | Differential activity and expression of human 5β-reductase (AKR1D1) splice variants. | 0 |
| 33493134 | 2021 | Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma. | 10 |
| 33502336 | 2021 | Differential activity and expression of human 5β-reductase (AKR1D1) splice variants. | 0 |
| 31337596 | 2020 | AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. | 6 |
| 31337596 | 2020 | AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. | 6 |
| 30769091 | 2019 | AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells. | 10 |
| 31259734 | 2019 | AKR1D1*36 C>T (rs1872930) allelic variant is associated with variability of the CYP2C9 genotype predicted pharmacokinetics of ibuprofen enantiomers - a pilot study in healthy volunteers. | 0 |
| 31330134 | 2019 | AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease. | 33 |
| 30769091 | 2019 | AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells. | 10 |
| 31259734 | 2019 | AKR1D1*36 C>T (rs1872930) allelic variant is associated with variability of the CYP2C9 genotype predicted pharmacokinetics of ibuprofen enantiomers - a pilot study in healthy volunteers. | 0 |
| 31330134 | 2019 | AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease. | 33 |
| 29024782 | 2018 | Dysregulation of Δ(4)-3-oxosteroid 5β-reductase in diabetic patients: Implications and mechanisms. | 9 |
Citation
Dessen P
AKR1D1 (aldo-keto reductase family 1 member D1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60234/akr1d1-(aldo-keto-reductase-family-1-member-d1)
