Property Summary

NCBI Gene PubMed Count 31
Grant Count 11
R01 Count 9
Funding $999,599.8
PubMed Score 68.62
PubTator Score 51.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -2.757 0.021
psoriasis -1.400 0.000

Gene RIF (19)

PMID Text
26418565 Impaired NADPH binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1.
25500266 When different steroid substrates were used in single turnover experiments with AKR1D1.
24894951 Despite having high kchem values with steroid hormones, the kinetic control of AKR1D1 is consistent with the enzyme catalysing the slowest step in the catabolic sequence of steroid hormone transformation in the liver.
24513054 AKR1D1 generates all 5beta-dihydrosteroids in the C19-C27 steroid series.
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.
23704699 Consistent with AKR1D1's putative role as a driver of the P450 subnetwork, the AKR1D1 3'-UTR SNP was significantly associated with increased hepatic mRNA expression of multiple P450s
23679950 Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease.
22437839 These studies show how a single point mutation in AKR1D1 can introduce HSD activity with unexpected configurational and stereochemical preference.
21255593 determined the substrate specificity of homogeneous human recombinant AKR1D1 using C18, C19, C21, and C27 Delta(4)-ketosteroids and assessed the pH-rate dependence of the enzyme.
21185810 all five mutations identified in patients with functional bile acid deficiency strongly affected AKR1D1 enzyme functionality and therefore may be causal for this disease
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AA Sequence

MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIRE      1 - 70
KIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKW     71 - 140
LYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQ    141 - 210
QHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERI    211 - 280
KENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY                            281 - 326
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Text Mined References (40)

PMID Year Title
26418565 2015 In-Depth Dissection of the P133R Mutation in Steroid 5?-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
25500266 2015 The rate-determining steps of aldo-keto reductases (AKRs), a study on human steroid 5?-reductase (AKR1D1).
24894951 2014 Rate of steroid double-bond reduction catalysed by the human steroid 5?-reductase (AKR1D1) is sensitive to steroid structure: implications for steroid metabolism and bile acid synthesis.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24513054 2014 5?-Reduced steroids and human ?(4)-3-ketosteroid 5?-reductase (AKR1D1).
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.
23704699 2013 Genetic variation in aldo-keto reductase 1D1 (AKR1D1) affects the expression and activity of multiple cytochrome P450s.
23679950 2013 A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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