Property Summary

NCBI Gene PubMed Count 92
PubMed Score 345.16
PubTator Score 426.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -3.600 2.0e-36

Protein-protein Interaction (4)

Gene RIF (78)

PMID Text
25731771 prostate cancer patients who harbored the heterozygous variant HSD3B1 (1245C) are more likely to develop to castration-resistant prostate cancer but do not have shorter time to biochemical recurrence, shorter survival time or higher mortality risk
25458695 HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma.
25319929 Results indicate that orexin-A significantly enhanced the expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) and the production of cortisol, and increased the phosphorylation of AKT protein in the NCI-H295R adrenocortical cells.
25172194 The data of this study supports a strongly positive association between mitochondrial complex I gene variations and MS pathogenesis in a Filipino population.
25092869 The AngII-NGFIB/NURR1 pathway controls HSD3B1 expression.
24951726 No evidence to support that HSD3B1 is involved in aldosterone synthesis in the human adrenal cortex or that genetic variation in HSD3B1 affects blood pressure or hypertension.
24810473 Expression of the genes HSD3B1, HSD17B3, and SRD5A2 was significantly increased in BPH tissues compared to normal adjacent prostate tissues.
24157973 The AAT haplotype of the HSD3B1 gene was significantly associated with increased risks of acne vulgaris in Han Chinese from the Southwest China.
24006038 Risk-conferring genetic variations in the HSD3beta gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio
23993097 Study shows that castration-resistant prostate cancer sometimes expresses a gain-of-stability mutation that leads to a gain-of-function in 3betaHSD1, which catalyzes the initial rate-limiting step in conversion of the adrenal-derived steroid dehydroepiandrosterone to dihydrotestosterone.
23859711 HSD3B1 T-->C Leu338, HTR2A T102C, GNAS T393C, and RGS2 G638A polymorphisms were not associated with hypertension risk.
23318910 HSD3B1 is a highly specific trophoblast-associated marker that can be used in the distinction of trophoblastic tumorlike lesions and tumors from nontrophoblastic lesions and tumors.
23122578 elevated in placental tissue of women with polycystic ovarian syndrome
22673022 Carriers of HSD3B1 GCC haplotype had lower peak early (Ea; P = 0.004) and higher peak late (Aa; P = 0.066) diastolic mitral annular velocities and therefore a lower Ea/Aa ratio (P = 0.041) as compared with noncarriers
22638611 The aim of this haplotype-based case-control study was to estimate whether polymorphisms of the maternal estrogen synthesis genes (CYP19A1, HSD3B1 and HSD3B2) are associated with preeclampsia and gestational hypertension
21932034 There is expression of 3beta-Hsd1 in XX gonads during gonad differentiation period.
21631238 The HSD3B1 T/C polymorphism cannot be used as genetic marker for the risk for recurrent spontaneous abortions in our Caucasian population.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20729390 Observational study of gene-disease association. (HuGE Navigator)
20660004 rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for essential hypertension, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level.
20660004 Observational study of gene-disease association. (HuGE Navigator)
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20420909 The study identifies an amino acid in the steroid binding domain of human 3-beta-HSD I that may be exploited to produce new inhibitors that are much more highly specific for 3-beta-HSD I in breast tumors compared to adrenal 3-beta-HSD II.
20214802 Observational study of gene-disease association. (HuGE Navigator)
20184498 Observational study of gene-disease association. (HuGE Navigator)
20086173 Data indicate that enzymes CYP17A1 and HSD3B1 showed low expression, while AKR1C3 and SRD5A1 were abundantly expressed.
20056642 We investigated associations between single nucleotide polymorphisms in genes HSD3B1, SRD5A1/2, and AKR1C2 and prostate cancer risk
20056642 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational 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)
19574343 Observational study of gene-disease association. (HuGE Navigator)
19505920 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19429456 compared (+)- and (-)-gossypols in the inhibition of 3beta-HSD and 17beta-HSD3 in human and rat testes
19414525 3beta-HSD protein was immunodetectable in primary ascites of women who were diagnosed with epithelial ovarian cancer but mRNA transcripts of both 3beta-hydroxysteroid dehydrogenase type 1 and type 2 were diminished relative to normal cells.
19336370 Observational study of gene-disease association. (HuGE Navigator)
19197249 Among patients with essential hypertension, cholesterol side-chain cleavage & MDR1 loci are related to circulating endogenous ouabain & DBP. In contrast, variants in HSD3B1 are related with SBP probably via aldosterone
19197249 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19148546 The genetic polymorphisms of the HSD3B1,genes were found to be significantly different (p<0.05) between the uremic and non-uremic diabetes group
19148546 Observational study of gene-disease association. (HuGE Navigator)
18955108 The high affinity, competitive inhibition of 3beta-HSD1 by trilostane and epostane may be related to the presence of Arg195 in 3beta-HSD1 vs. Pro195 in 3beta-HSD2.
18778748 Anti-inflammatory effects of IL-1alpha and IL-4 on 3beta-HSD2 mRNA involve a p38 MAPK signalling pathway, whereas pro-inflammatory response of IL-1alpha to 3beta-HSD1 mRNA involves a NF-kappaB inflammatory pathway.
18723074 The activity levels of 17beta-hydroxysteroid dehydrogenase (17beta-HSD), 3beta-hydroxysteroid dehydrogenase (3beta-HSD), 3alpha-hydroxysteroid dehydrogenase (3alpha-HSD/3-KSR) and estrone sulfatase in ovarian epithelial carcinomas, were assayed.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18636124 Observational study of gene-disease association. (HuGE Navigator)
18524572 Structure/function of the inhibition of HSD3B1 by trilostane is reported.
18281655 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18281655 Observational study of gene-disease association. (HuGE Navigator)
18223326 HSD3B1 is highly specific and sensitive compared with other trophoblastic markers dor differential diagnosis of trophoblastic tumors and tumorlike lesions..
17826523 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17826523 results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease
17689071 There is a possible role in human disease of common genetic variation in HSD3B1 and HSD3B2.
17627014 Observational study of gene-disease association. (HuGE Navigator)
17627014 Variant in the HSD3B1 gene is associated with increased mammographic density
17624763 The Rossmann-fold domain of 3beta-HSD1 contains two Cys residues, Cys72 and Cys111, which are capable of forming an intrasubunit disulfide bond based on their proximity in our structural model.
17589376 Observational study of gene-disease association. (HuGE Navigator)
17507624 Observational study of gene-disease association. (HuGE Navigator)
16302261 Observational study of gene-disease association. (HuGE Navigator)
15797861 identification of structural reasons for the substantially higher affinities of 3beta-HSD1 for substrates, coenzymes, and inhibitors
15291757 further characterizes structure/function relationships of human 3beta-HSD and bring us closer to the goal of selectively inhibiting the type 1 enzyme in placenta to control the timing of labor or in hormone-sensitive breast tumors to slow their growth
15291746 results designate YY1 as the factor responsible for the intron 1-mediated boost of the HSD3B2 gene basal promoter activity
15097232 Observational study of gene-disease association. (HuGE Navigator)
15097232 Neither of the HSD3B1 or PTP1B variants were associated with hypertension
14764797 Descending HSD3B phenotype in hyperandrogenic females is associated with a variant of insulin-resistant polycystic ovary syndrome.
12832414 Structure/function relationships responsible for coenzyme specificity and the isomerase activity of this multienzyme complex.
12530676 In outer region of adrenal cortex immunoreactivity was observed for 3beta-hydroxysteroid dehydrogenase.
12530651 Substantially higher affinity of 3beta-HSD1 activity for substrate and inhibitor steroids relative to the 3beta-HSD2 enzyme.
12438565 HSD3B1 was identified using a trifunctional phenyl sulfonate probe.
12205101 Structure/function relationships responsible for the kinetic differences between isoforms
12054649 Observational study of gene-disease association. (HuGE Navigator)
12054649 Polymorphism in exon 4 of the human gene and blood presssure
12050213 nonstop mutation in the stop codon and missense mutation in type II 3beta-hydroxysteroid dehydrogenase gene causing 3beta-HSD deficiency congenital adrenal hyperplasia.
11912155 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLEGDILDEPFLK      1 - 70
RACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQN     71 - 140
GHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTLYTCALRPMYIYGEGSRFLSASINEALNNNG    141 - 210
ILSSVGKFSTVNPVYVGNVAWAHILALRALQDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRL    211 - 280
DSRWSFPLSLMYWIGFLLEIVSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAK    281 - 350
QKTVEWVGSLVDRHKETLKSKTQ                                                   351 - 373
//

Text Mined References (93)

PMID Year Title
25731771 2015 Variant allele of HSD3B1 increases progression to castration-resistant prostate cancer.
25458695 2015 3?-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma.
25319929 2014 Orexin-A stimulates 3?-hydroxysteroid dehydrogenase expression and cortisol production in H295R human adrenocortical cells through the AKT pathway.
25172194 2014 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis.
25092869 2014 Angiotensin II triggers expression of the adrenal gland zona glomerulosa-specific 3?-hydroxysteroid dehydrogenase isoenzyme through de novo protein synthesis of the orphan nuclear receptors NGFIB and NURR1.
24951726 2015 Expression and gene variation studies deny association of human HSD3B1 gene with aldosterone production or blood pressure.
24810473 2015 Gene expression of androgen metabolising enzymes in benign and malignant prostatic tissues.
24157973 2013 Association of HSD17B3 and HSD3B1 polymorphisms with acne vulgaris in Southwestern Han Chinese.
24006038 2013 Association of the variations in the HSD3? gene with primary aldosteronism.
23993097 2013 A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer.
23859711 2013 Genetic associations with hypertension: meta-analyses of six candidate genetic variants.
23318910 2013 HSD3B1 is a specific trophoblast-associated marker not expressed in a wide spectrum of tumors.
23122578 2013 Placental steroidogenesis in pregnant women with polycystic ovary syndrome.
22673022 2012 Left ventricular structure and function in relation to steroid biosynthesis genes in a white population.
22638611 2012 Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
21932034 2011 Expression of 3?-HSD1 and P450 Aromatase enzymes during mouse gonad differentiation.
21631238 2012 Genetic variation in the HSD3B1 gene and recurrent spontaneous abortions.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20729390 2010 Serum estrogen and tumor-positive estrogen receptor-alpha are strong prognostic classifiers of non-small-cell lung cancer survival in both men and women.
20660004 2010 Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20420909 2010 The functions of key residues in the inhibitor, substrate and cofactor sites of human 3beta-hydroxysteroid dehydrogenase type 1 are validated by mutagenesis.
20214802 2010 Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.
20184498 2010 Polymorphisms in catechol-O-methyltransferase and cytochrome p450 subfamily 19 genes predispose towards Madurella mycetomatis-induced mycetoma susceptibility.
20086173 2010 Evidence of limited contributions for intratumoral steroidogenesis in prostate cancer.
20056642 2010 Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19574343 2009 Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
19505920 2009 Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19429456 2009 The (+)- and (-)-gossypols potently inhibit both 3beta-hydroxysteroid dehydrogenase and 17beta-hydroxysteroid dehydrogenase 3 in human and rat testes.
19414525 2009 Regulation of 3beta-hydroxysteroid dehydrogenase type 1 and type 2 gene expression and function in the human ovarian surface epithelium by cytokines.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19197249 2009 Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19148546 2009 Polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: results of a DNA resequencing array study.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18955108 2009 Structural basis for the selective inhibition of human 3beta-hydroxysteroid dehydrogenase 1 in human breast tumor MCF-7 cells.
18778748 2009 3beta-Hydroxysteroid dehydrogenases and pre-receptor steroid metabolism in the human ovarian surface epithelium.
18723074 2009 Steroid-converting enzymes in human ovarian carcinomas.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18524572 2008 Structure/function of the inhibition of human 3beta-hydroxysteroid dehydrogenase type 1 and type 2 by trilostane.
18281655 2008 Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.
18223326 2008 HSD3B1 as a novel trophoblast-associated marker that assists in the differential diagnosis of trophoblastic tumors and tumorlike lesions.
17826523 2007 Association between polymorphisms in HSD3B1 and UGT2B17 and prostate cancer risk.
17689071 2007 Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics.
17627014 2007 Mammographic density and candidate gene variants: a twins and sisters study.
17624763 2007 Structure/function of human type 1 3beta-hydroxysteroid dehydrogenase: An intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for substrate and coenzyme utilization.
17589376 Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition.
17507624 2007 Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.
16302261 2006 Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.
15797861 2005 Identification of key amino acids responsible for the substantially higher affinities of human type 1 3beta-hydroxysteroid dehydrogenase/isomerase (3beta-HSD1) for substrates, coenzymes, and inhibitors relative to human 3beta-HSD2.
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15291757 2004 Serine 124 completes the Tyr, Lys and Ser triad responsible for the catalysis of human type 1 3beta-hydroxysteroid dehydrogenase.
15291746 2004 YY1 binding within the human HSD3B2 gene intron 1 is required for maximal basal promoter activity: identification of YY1 as the 3beta1-A factor.
15097232 2004 Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension.
14764797 2004 The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12832414 2003 Structure/function relationships responsible for coenzyme specificity and the isomerase activity of human type 1 3 beta-hydroxysteroid dehydrogenase/isomerase.
12530676 2002 Steroidogenic enzyme expression within the adrenal cortex during early human gestation.
12530651 2002 Differences in substrate and inhibitor kinetics of human type 1 and type 2 3beta-hydroxysteroid dehydrogenase are explained by the type 1 mutant, H156Y.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12438565 2002 Trifunctional chemical probes for the consolidated detection and identification of enzyme activities from complex proteomes.
12205101 2002 Structure/function relationships responsible for the kinetic differences between human type 1 and type 2 3beta-hydroxysteroid dehydrogenase and for the catalysis of the type 1 activity.
12054649 2002 Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure.
12050213 2002 A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
11912155 2002 Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
11174850 2001 Immunoelectron microscopic localization of 3beta-hydroxysteroid dehydrogenase and type 5 17beta-hydroxysteroid dehydrogenase in the human prostate and mammary gland.
10810285 2000 Localization of type 1 17beta-hydroxysteroid dehydrogenase mRNA and protein in syncytiotrophoblasts and invasive cytotrophoblasts in the human term villi.
10391209 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes.
10067877 1999 Localization of type 5 17beta-hydroxysteroid dehydrogenase, 3beta-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry.
8908375 1996 The expression of steroidogenic enzyme genes in human vascular cells.
8274411 1993 Dual subcellular localization of the 3 beta-hydroxysteroid dehydrogenase isomerase: characterization of the mitochondrial enzyme in the bovine adrenal cortex.
8043598 1994 Topography of human placental 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase in microsomal membrane. A study using limited proteolysis and immunoblotting.
7673125 1995 An NADH-induced conformational change that mediates the sequential 3 beta-hydroxysteroid dehydrogenase/isomerase activities is supported by affinity labeling and the time-dependent activation of isomerase.
2779585 1989 Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase.
2770297 1989 Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes.
2243100 1990 Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.
2139411 1990 Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids.
2082186 1990 Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase.
2066113 1991 Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation.
1944309 1991 Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.
1920284 1991 Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase.
1737804 1992 Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.
1673569 1991 Synonymous polymorphism in the coding sequence of human 3-beta hydroxysteroid-5-ene dehydrogenase (HSD).
1401999 1992 Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin.