AKR1D1 (aldo-keto reductase family 1 member D1)

2014-11-01  

Identity

HGNC
LOCATION
7q33
LOCUSID
ALIAS
3o5bred,CBAS2,SRD5B1
FUSION GENES

Other Information

Locus ID:

NCBI: 6718
MIM: 604741
HGNC: 388
Ensembl: ENSG00000122787

Variants:

dbSNP: 6718
ClinVar: 6718
TCGA: ENSG00000122787
COSMIC: AKR1D1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122787ENST00000242375P51857
ENSG00000122787ENST00000411726P51857
ENSG00000122787ENST00000432161P51857
ENSG00000122787ENST00000438242C9J3U1

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
Steroid hormone biosynthesisKEGGko00140
Primary bile acid biosynthesisKEGGhsa00120
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterolREACTOMER-HSA-193807

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
241891852014Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.39
184079982008Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.33
205229102010Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.18
188488632009Structure and catalytic mechanism of human steroid 5beta-reductase (AKR1D1).17
212555932011Substrate specificity and inhibitor analyses of human steroid 5β-reductase (AKR1D1).17
191758282009SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.13
1612307720055 Beta-dihydroprogesterone and steroid 5 beta-reductase decrease in association with human parturition at term.12
2451305420145β-Reduced steroids and human Δ(4)-3-ketosteroid 5β-reductase (AKR1D1).12
237046992013Genetic variation in aldo-keto reductase 1D1 (AKR1D1) affects the expression and activity of multiple cytochrome P450s.11

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