HSD3B1

Gene Information
 
Gene Symbol
HSD3B1
 
Aliases
3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
 
Entrez Gene ID
 
Gene Name
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
 
Chromosomal Location
1p12
 
HGNC ID
 
Summary
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006694 Biological process Steroid biosynthetic process IBA 21873635
GO:0006694 Biological process Steroid biosynthetic process ISS 1944309
GO:0006702 Biological process Androgen biosynthetic process TAS 1944309
GO:0006703 Biological process Estrogen biosynthetic process TAS 1944309
GO:0008207 Biological process C21-steroid hormone metabolic process IBA 21873635
Protein Information
 
Protein Name
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I, 3-beta-HSD I, 3-beta-hydroxy-5-ene steroid dehydrogenase, 3-beta-hydroxy-Delta(5)-steroid dehydrogenase, 3-beta-hydroxysteroid 3-dehydrogenase, delta-5-3-ketosteroid isomerase, dihydrotestosterone oxidoreductase, progesterone reductase, short chain dehydrogenase/reductase family 11E, member 1, steroid Delta-isomerase, trophoblast antigen FDO161G
 
Function
A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable).
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF01073 3Beta_HSD
Pathways
 
KEGG
 
Reactome
 

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome

 

Androgen biosynthesis
Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis

Interactions
 
STRING MINT IntAct
ENSP00000229135 P01579
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
Ovarian Cancer
References
 

Statins in the treatment of polycystic ovary syndrome.

Kodaman Pinar H, Duleba Antoni J
Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA.
Semin Reprod Med. 2008 Jan;26(1):127-38. doi: 10.1055/s-2007-992933.

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