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Gene Symbol |
HSD3B1 |
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Aliases |
3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1 |
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Entrez Gene ID |
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Gene Name |
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
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Chromosomal Location |
1p12 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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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 |
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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). |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF01073 |
3Beta_HSD |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000229135 |
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P01579 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Neoplasms |
Prostate cancer |
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Ovarian Cancer |
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References |
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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. |
Abstract
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting reproductive-aged women. The hyperandrogenemia associated with the syndrome is a result of excessive growth and steroidogenic activity of theca-interstitial tissues in response to various factors, including elevated gonadotropins, hyperinsulinemia, and oxidative stress. PCOS frequently coexists with other cardiovascular risk factors, such as dyslipidemia and systemic inflammation. Statins inhibit the synthesis of mevalonate, the key precursor to cholesterol biosynthesis, and reduce cardiovascular morbidity and mortality. Blockade of mevalonate production may also lead to decreased maturation of insulin receptors, inhibition of steroidogenesis (e.g., via limiting the amount of substrate: cholesterol), and alteration of signal transduction pathways that mediate cellular proliferation. The latter depend upon posttranslational modification of proteins (prenylation), a process mediated by mevalonate derivatives. Statins also have intrinsic antioxidant properties. Given the pleiotropic actions of statins, they are likely not only to improve the dyslipidemia associated with PCOS but may also exert other beneficial metabolic and endocrine effects. |
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National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
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