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HSD3B1
Identifiers
Aliases	HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
External IDs	OMIM: 109715; MGI: 109598; HomoloGene: 133013; GeneCards: HSD3B1; OMA:HSD3B1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p12 Start 119,507,198 bp End 119,515,054 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.2 Start 98,712,820 bp End 98,721,759 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta decidua skin of thigh vulva right adrenal cortex left adrenal gland left adrenal cortex mucosa of transverse colon mucosa of ileum islet of Langerhans Top expressed in adrenal gland genital tubercle placenta adrenal medulla testicle embryo yolk sac tail of embryo secondary oocyte pallidum of neuraxis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor isomerase activity catalytic activity oxidoreductase activity steroid delta-isomerase activity 3-beta-hydroxy-delta5-steroid dehydrogenase activity cholesterol dehydrogenase activity 3-keto sterol reductase activity 5alpha-androstane-3beta,17beta-diol dehydrogenase activity Cellular component integral component of membrane membrane mitochondrial membranes mitochondrial intermembrane space smooth endoplasmic reticulum membrane endoplasmic reticulum mitochondrion mitochondrial inner membrane endoplasmic reticulum membrane intracellular membrane-bounded organelle Biological process estrogen biosynthetic process androgen biosynthetic process glucocorticoid biosynthetic process mineralocorticoid biosynthetic process metabolism steroid biosynthetic process C21-steroid hormone metabolic process hippocampus development response to corticosterone lipid metabolism steroid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3283 15497 Ensembl ENSG00000203857 ENSMUSG00000027869 UniProt P14060 O35469 RefSeq (mRNA) NM_000862 NM_001328615 NM_013821 RefSeq (protein) NP_000853 NP_001315544 NP_038849 Location (UCSC) Chr 1: 119.51 – 119.52 Mb Chr 3: 98.71 – 98.72 Mb PubMed search
Wikidata
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HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date, besides prostate cancer.

Clinical significance

The 1245C allele (HSD3B1 adrenal-permissive homozygous genotype 1245 C/C) encodes for a missense and hyperactive enzyme that increases extragonadal androgen synthesis and is associated with poorer outcomes after androgen deprivation therapy in prostate cancer.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000203857 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000027869 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1".
6. Taneja SS (January 2017). "Re: HSD3B1 and Resistance to Androgen-Deprivation Therapy in Prostate Cancer: A Retrospective, Multicohort Study". The Journal of Urology. 197 (1): 150. doi:10.1016/j.juro.2016.10.045. PMID 27979506.
7. Hearn, Jason (October 2016). "HSD3B1 and resistance to androgen-deprivation therapy in prostate cancer: a retrospective, multicohort study". Lancet Oncology. 17 (10): 1435–1444. doi:10.1016/S1470-2045(16)30227-3. PMC 5135009. PMID 27575027.
8. McKay, Rana R.; Nelson, Tyler J.; Pagadala, Meghana S.; Teerlink, Craig C.; Gao, Anthony; Bryant, Alex K.; Agiri, Fatai Y.; Guram, Kripa; Thompson, Reid F.; Pridgen, Kathryn M.; Seibert, Tyler M.; Lee, Kyung Min; Carter, Hannah; Lynch, Julie A.; Hauger, Richard L. (2024-03-20). "Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes". JAMA Network Open. 7 (3): e242976. doi:10.1001/jamanetworkopen.2024.2976. ISSN 2574-3805. PMC 10955379.

Further reading

• Dumont M, Luu-The V, Dupont E, Pelletier G, Labrie F (October 1992). "Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin". The Journal of Investigative Dermatology. 99 (4): 415–21. doi:10.1111/1523-1747.ep12616131. PMID 1401999.
• Russell AJ, Gaffney D, Gardiner MT, Nickson DA, Sutcliffe RG (March 1991). "Synonymous polymorphism in the coding sequence of human 3-beta hydroxysteroid-5-ene dehydrogenase (HSD)". Nucleic Acids Research. 19 (5): 1172. doi:10.1093/nar/19.5.1172-a. PMC 333834. PMID 1673569.
• Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guérin S, Leblanc G, Labrie F (February 1992). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". The Journal of Biological Chemistry. 267 (5): 3551. doi:10.1016/S0021-9258(19)50764-5. PMID 1737804.
• Nickson DA, McBride MW, Zeinali S, Hawes CS, Petropoulos A, Mueller UW, Sutcliffe RG (September 1991). "Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase". Journal of Reproduction and Fertility. 93 (1): 149–56. doi:10.1530/jrf.0.0930149. PMID 1920284.
• Rhéaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J, Labrie F (August 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". Molecular Endocrinology. 5 (8): 1147–57. doi:10.1210/mend-5-8-1147. PMID 1944309.
• Morrison N, Nickson DA, McBride MW, Mueller UW, Boyd E, Sutcliffe RG (June 1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation". Human Genetics. 87 (2): 223–5. doi:10.1007/BF00204189. PMID 2066113. S2CID 38702281.
• Lorence MC, Corbin CJ, Kamimura N, Mahendroo MS, Mason JI (December 1990). "Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase". Molecular Endocrinology. 4 (12): 1850–5. doi:10.1210/mend-4-12-1850. PMID 2082186.
• Lorence MC, Murry BA, Trant JM, Mason JI (May 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". Endocrinology. 126 (5): 2493–8. doi:10.1210/endo-126-5-2493. PMID 2139411.
• Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guérin S, Leblanc G, Labrie F (November 1990). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". The Journal of Biological Chemistry. 265 (33): 20469–75. doi:10.1016/S0021-9258(17)30528-8. PMID 2243100.
• Luu The V, Lachance Y, Labrie C, Leblanc G, Thomas JL, Strickler RC, Labrie F (August 1989). "Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase". Molecular Endocrinology. 3 (8): 1310–2. doi:10.1210/mend-3-8-1310. PMID 2779585.
• Thomas JL, Frieden C, Nash WE, Strickler RC (September 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". The Journal of Biological Chemistry. 270 (36): 21003–8. doi:10.1074/jbc.270.36.21003. PMID 7673125.
• Alvarez CI, Genti-Raimondi S, Patrito LC, Flury A (July 1994). "Topography of human placental 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase in microsomal membrane. A study using limited proteolysis and immunoblotting". Biochimica et Biophysica Acta. 1207 (1): 102–8. doi:10.1016/0167-4838(94)90057-4. PMID 8043598.
• Cherradi N, Defaye G, Chambaz EM (December 1993). "Dual subcellular localization of the 3 beta-hydroxysteroid dehydrogenase isomerase: characterization of the mitochondrial enzyme in the bovine adrenal cortex". The Journal of Steroid Biochemistry and Molecular Biology. 46 (6): 773–9. doi:10.1016/0960-0760(93)90318-Q. PMID 8274411. S2CID 29330476.
• Hatakeyama H, Miyamori I, Takeda Y, Yamamoto H, Mabuchi H (October 1996). "The expression of steroidogenic enzyme genes in human vascular cells". Biochemistry and Molecular Biology International. 40 (3): 639–45. doi:10.1080/15216549600201233. PMID 8908375. S2CID 26317546.
• El-Alfy M, Luu-The V, Huang XF, Berger L, Labrie F, Pelletier G (March 1999). "Localization of type 5 17beta-hydroxysteroid dehydrogenase, 3beta-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry". Endocrinology. 140 (3): 1481–91. doi:10.1210/endo.140.3.6585. PMID 10067877.
• Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES (July 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nature Genetics. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209. S2CID 195213008.
• Bonenfant M, Provost PR, Drolet R, Tremblay Y (May 2000). "Localization of type 1 17beta-hydroxysteroid dehydrogenase mRNA and protein in syncytiotrophoblasts and invasive cytotrophoblasts in the human term villi". The Journal of Endocrinology. 165 (2): 217–22. doi:10.1677/joe.0.1650217. PMID 10810285.
• Pelletier G, Luu-The V, El-Alfy M, Li S, Labrie F (February 2001). "Immunoelectron microscopic localization of 3beta-hydroxysteroid dehydrogenase and type 5 17beta-hydroxysteroid dehydrogenase in the human prostate and mammary gland". Journal of Molecular Endocrinology. 26 (1): 11–9. doi:10.1677/jme.0.0260011. PMID 11174850.
• Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI (June 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". The Journal of Clinical Endocrinology and Metabolism. 87 (6): 2556–63. doi:10.1210/jcem.87.6.8559. PMID 12050213.
• Rosmond R, Chagnon M, Bouchard C, Björntorp P (April 2002). "Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure". Biochemical and Biophysical Research Communications. 293 (1): 629–32. doi:10.1016/S0006-291X(02)00234-6. PMID 12054649.

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1. Chang, Kai-Hsiung (August 2013). "A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer". Cell. 154 (5): 1074–1084. doi:10.1016/j.cell.2013.07.029. PMC 3931012. PMID 23993097.

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