AKR1C4 (aldo-keto reductase family 1 member C4)

2017-04-01  

Identity

HGNC
LOCATION
10p15.1
LOCUSID
ALIAS
3-alpha-HSD,C11,CDR,CHDR,DD-4,DD4,HAKRA
FUSION GENES

Other Information

Locus ID:

NCBI: 1109
MIM: 600451
HGNC: 387
Ensembl: ENSG00000198610

Variants:

dbSNP: 1109
ClinVar: 1109
TCGA: ENSG00000198610
COSMIC: AKR1C4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198610ENST00000263126P17516
ENSG00000198610ENST00000380448P17516

Expression (GTEx)

0
50
100
150
200

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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449212daunorubicinChemicalVariantAnnotationassociatedPK20837989
PA449563exemestaneChemicalClinicalAnnotationassociatedPK27111237

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
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
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
215211742011Stereospecific reduction of 5β-reduced steroids by human ketosteroid reductases of the AKR (aldo-keto reductase) superfamily: role of AKR1C1-AKR1C4 in the metabolism of testosterone and progesterone via the 5β-reductase pathway.19
163448542006Influence of mirtazapine on plasma concentrations of neuroactive steroids in major depression and on 3alpha-hydroxysteroid dehydrogenase activity.16
159874282005Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.14
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.12
202148022010Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.11

Citation

Dessen P

AKR1C4 (aldo-keto reductase family 1 member C4)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56854/akr1c4