3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Function

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Classification

Family (Pfam)

PF01073 3Beta_HSD

InterPro

3Beta_OHSteriod_DH/Estase, Lipid_A_modif_metabolic_enz, NAD(P)-bd_dom_sf

Functional cluster

Phosphoribosyltransferases & related

Gene Ontology · 15

• GO:0005737 cytoplasm
• GO:0005783 endoplasmic reticulum
• GO:0005789 endoplasmic reticulum membrane
• GO:0045171 intercellular bridge
• GO:0016020 membrane
• GO:0005743 mitochondrial inner membrane
• GO:0005758 mitochondrial intermembrane space
• GO:0031966 mitochondrial membrane
• GO:0030868 smooth endoplasmic reticulum membrane
• GO:0003854 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity
• GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
• GO:0004769 steroid Delta-isomerase activity
• GO:0006702 androgen biosynthetic process
• GO:0008207 C21-steroid hormone metabolic process
• GO:0006694 steroid biosynthetic process

Disease associations

• congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0008727

Drugs targeting this protein · 1

• TRILOSTANE inhibitor

Related proteins · sequence + function similarity

• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 0.99
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 0.98
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 0.97
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase 0.96
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 0.96
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 0.96
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 0.96
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase 0.96
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase 0.95
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 4 0.95
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6 0.95
• 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 0.95

Literature · 26 cited papers

• A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3beta-hydroxysteroid dehidrogenase type II. J. Clin. Endocrinol. Metab. · 2015
• In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations. Gene · 2012
• Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. · 2008
• The full-ORF clone resource of the German cDNA consortium. BMC Genomics · 2007
• The DNA sequence and biological annotation of human chromosome 1. Nature · 2006
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 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. J. Clin. Endocrinol. Metab. · 2004
• A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. · 2002
• A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. J. Clin. Endocrinol. Metab. · 2000
• Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Clin. Endocrinol. (Oxf.) · 2000
• New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. J. Clin. Endocrinol. Metab. · 1999
• Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents. Mol. Genet. Metab. · 1998
• … and 14 more in the literature graph