Property Summary

NCBI Gene PubMed Count 37
Grant Count 60
R01 Count 29
Funding $18,594,716.63
PubMed Score 48.66
PubTator Score 273.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -3.008 0.003

Synonym

Accession P17516 Q5T6A3 Q8WW84 Q9NS54
Symbols C11
CDR
DD4
CHDR
DD-4
HAKRA
3-alpha-HSD

Gene

PANTHER Protein Class (2)

PDB

2FVL  

Gene RIF (17)

PMID Text
24189185 Studies indicate that mutations in aldo-keto reductase family 1 (AKR1) enzymes AKR1C1 and AKR1C4 are responsible for sexual development dysgenesis and mutations in AKR1D1 are causative in bile-acid deficiency.
22356824 In women only, SNPs in AKR1C4 reduced the likelihood of having exhibited paranoid ideation by circa 60%.
21570127 Low progesterone levels and a cystine to serine change at position 145 in AKR1C4 gene are associated with manic/hypomanic irritability in males
21521174 role of AKR1C4 in the metabolism of testosterone and progesterone via the 5beta-reductase pathway.
20214802 Observational study of gene-disease association. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19013211 Structure determination of human AKR1C4 and homology modelling of AKR1D1 followed by docking experiments were used to explore active site geometries.
More...

AA Sequence

MDPKYQRVELNDGHFMPVLGFGTYAPPEVPRNRAVEVTKLAIEAGFRHIDSAYLYNNEEQVGLAIRSKIA      1 - 70
DGSVKREDIFYTSKLWCTFFQPQMVQPALESSLKKLQLDYVDLYLLHFPMALKPGETPLPKDENGKVIFD     71 - 140
TVDLSATWEVMEKCKDAGLAKSIGVSNFNCRQLEMILNKPGLKYKPVCNQVECHPYLNQSKLLDFCKSKD    141 - 210
IVLVAHSALGTQRHKLWVDPNSPVLLEDPVLCALAKKHKQTPALIALRYQLQRGVVVLAKSYNEQRIREN    211 - 280
IQVFEFQLTSEDMKVLDGLNRNYRYVVMDFLMDHPDYPFSDEY                               281 - 323
//

Text Mined References (39)

PMID Year Title
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24189185 2014 Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22356824 2012 Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder.
21851338 2011 Retinaldehyde is a substrate for human aldo-keto reductases of the 1C subfamily.
21802064 2011 Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
21570127 2011 AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder.
21521174 2011 Stereospecific reduction of 5?-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 5?-reductase pathway.
More...