HSD3B1

From Wikipedia, the free encyclopedia


Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Identifiers
Symbol(s) HSD3B1; HSD3B; HSDB3
External IDs OMIM: 109715 MGI: 96233 HomoloGene: 69149
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3283 15492
Ensembl ENSG00000203857 ENSMUSG00000027871
Uniprot P14060 Q3UI20
Refseq NM_000862 (mRNA)
NP_000853 (protein)		 NM_008293 (mRNA)
NP_032319 (protein)
Location Chr 1: 119.85 - 119.86 Mb Chr 3: 98.98 - 98.99 Mb
Pubmed search [1] [2]

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1, also known as HSD3B1, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1.

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 
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