HSD3B1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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.

Clinical significance

The 1245C allele is associated with poorer outcomes in prostate cancer.

Further reading

• Dumont M, Luu-The V, Dupont E, et al. (1992). "Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin". J. Invest. Dermatol. 99 (4): 415–21. doi:10.1111/1523-1747.ep12616131. PMID 1401999.
• Russell AJ, Gaffney D, Gardiner MT, et al. (1991). "Synonymous polymorphism in the coding sequence of human 3-beta hydroxysteroid-5-ene dehydrogenase (HSD)". Nucleic Acids Res. 19 (5): 1172. doi:10.1093/nar/19.5.1172-a. PMC 333834. PMID 1673569.
• Lachance Y, Luu-The V, Labrie C, et al. (1992). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". J. Biol. Chem. 267 (5): 3551. PMID 1737804.
• Nickson DA, McBride MW, Zeinali S, et al. (1991). "Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase". J. Reprod. Fertil. 93 (1): 149–56. doi:10.1530/jrf.0.0930149. PMID 1920284.
• Rhéaume E, Lachance Y, Zhao HF, et al. (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". Mol. Endocrinol. 5 (8): 1147–57. doi:10.1210/mend-5-8-1147. PMID 1944309.
• Morrison N, Nickson DA, McBride MW, et al. (1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation". Hum. Genet. 87 (2): 223–5. doi:10.1007/BF00204189. PMID 2066113.
• Lorence MC, Corbin CJ, Kamimura N, et al. (1991). "Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase". Mol. Endocrinol. 4 (12): 1850–5. doi:10.1210/mend-4-12-1850. PMID 2082186.
• Lorence MC, Murry BA, Trant JM, Mason JI (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, et al. (1990). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". J. Biol. Chem. 265 (33): 20469–75. PMID 2243100.
• Luu The V, Lachance Y, Labrie C, et al. (1989). "Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase". Mol. Endocrinol. 3 (8): 1310–2. doi:10.1210/mend-3-8-1310. PMID 2779585.
• Thomas JL, Frieden C, Nash WE, Strickler RC (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". J. Biol. Chem. 270 (36): 21003–8. doi:10.1074/jbc.270.36.21003. PMID 7673125.
• Alvarez CI, Genti-Raimondi S, Patrito LC, Flury A (1994). "Topography of human placental 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase in microsomal membrane. A study using limited proteolysis and immunoblotting". Biochim. Biophys. Acta. 1207 (1): 102–8. doi:10.1016/0167-4838(94)90057-4. PMID 8043598.
• Cherradi N, Defaye G, Chambaz EM (1994). "Dual subcellular localization of the 3 beta-hydroxysteroid dehydrogenase isomerase: characterization of the mitochondrial enzyme in the bovine adrenal cortex". J. Steroid Biochem. Mol. Biol. 46 (6): 773–9. doi:10.1016/0960-0760(93)90318-Q. PMID 8274411.
• Hatakeyama H, Miyamori I, Takeda Y, et al. (1997). "The expression of steroidogenic enzyme genes in human vascular cells". Biochem. Mol. Biol. Int. 40 (3): 639–45. doi:10.1080/15216549600201233. PMID 8908375.
• El-Alfy M, Luu-The V, Huang XF, et al. (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/en.140.3.1481. PMID 10067877.
• Cargill M, Altshuler D, Ireland J, et al. (1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209.
• Bonenfant M, Provost PR, Drolet R, Tremblay Y (2000). "Localization of type 1 17beta-hydroxysteroid dehydrogenase mRNA and protein in syncytiotrophoblasts and invasive cytotrophoblasts in the human term villi". J. Endocrinol. 165 (2): 217–22. doi:10.1677/joe.0.1650217. PMID 10810285.
• Pelletier G, Luu-The V, El-Alfy M, et al. (2001). "Immunoelectron microscopic localization of 3beta-hydroxysteroid dehydrogenase and type 5 17beta-hydroxysteroid dehydrogenase in the human prostate and mammary gland". J. Mol. Endocrinol. 26 (1): 11–9. doi:10.1677/jme.0.0260011. PMID 11174850.
• Pang S, Wang W, Rich B, et al. (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". J. Clin. Endocrinol. Metab. 87 (6): 2556–63. doi:10.1210/jc.87.6.2556. PMID 12050213.
• Rosmond R, Chagnon M, Bouchard C, Björntorp P (2002). "Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure". Biochem. Biophys. Res. Commun. 293 (1): 629–32. doi:10.1016/S0006-291X(02)00234-6. PMID 12054649.