AKR1C1 (aldo-keto reductase family 1 member C1)

2012-12-01  

Identity

HGNC
LOCATION
10p15.1
LOCUSID
ALIAS
2-ALPHA-HSD,20-ALPHA-HSD,C9,DD1,DD1/DD2,DDH,DDH1,H-37,HAKRC,HBAB,MBAB
FUSION GENES

Other Information

Locus ID:

NCBI: 1645
MIM: 600449
HGNC: 384
Ensembl: ENSG00000187134

Variants:

dbSNP: 1645
ClinVar: 1645
TCGA: ENSG00000187134
COSMIC: AKR1C1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187134ENST00000380859A6NHU4
ENSG00000187134ENST00000380872Q04828
ENSG00000187134ENST00000442997H0Y804

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Steroid hormone biosynthesisKEGGhsa00140
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
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
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
163380602006AKR1C1 and AKR1C3 may determine progesterone and estrogen ratios in endometrial cancer.45
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
241891852014Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.39
165432472006Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma.36
152126872004Expression of progesterone metabolizing enzyme genes (AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2) is altered in human breast carcinoma.33
154922892004Selective loss of AKR1C1 and AKR1C2 in breast cancer and their potential effect on progesterone signaling.31
171496002007Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma.26
128998312003Human 20alpha-hydroxysteroid dehydrogenase: crystallographic and site-directed mutagenesis studies lead to the identification of an alternative binding site for C21-steroids.25
179451942008Transcriptional regulation of aldo-keto reductase 1C1 in HT29 human colon cancer cells resistant to methotrexate: role in the cell cycle and apoptosis.25

Citation

Dessen P

AKR1C1 (aldo-keto reductase family 1 member C1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53098/akr1c1