Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

1.1.1.145

Official Name

3beta-hydroxy-Delta5-steroid dehydrogenase

Name from literature

hydroxy delta steroid dehydrogenase

Pathway from literature

the sex steroid hormone biosynthesis pathway

Pathway from KEGG

Lipid Metabolism; Androgen and estrogen metabolism; map00150

Lipid Metabolism; C21-Steroid hormone metabolism; map00140

Organisms

Human (9606)

Genome localization

1p13.1[3283 ], 1p13.1[3284 ],

Comments

Acts on 3beta-hydroxyandrost-5-en-17-one to form androst-4-ene-3,17-dione and on 3beta-hydroxypregn-5-en-20-one to form progesterone.

Rate-limiting Description

"We investigated the first two steps of the bile acid biosynthesis pathway by assaying the activities of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in this pathway, and 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase, and by measuring the concentrations of 7 alpha-hydroxycholesterol and 7 alpha-hydroxy-4-cholesten-3-one in liver specimens from ten patients with cholesterol gallstones and ten gallstone-free controls." (8574339)

Regulatory Information

Upstream transcription factor

2494;3164

Regulatory type

Detail

transcriptional factor;nerve growth factor-induced clone B family of transcription factors(3164)

"HSD3B2 is upregulated by the nerve growth factor-induced clone B family of transcription factors." (15615861)

key enzyme;

"The enzyme 3beta-hydroxysteroid dehydrogenase (3beta-HSD) is a key enzyme in the biosynthesis of steroid hormones. " (9075693)

inhibitor;

"Substantially higher affinity of 3beta-HSD1 activity for substrate and inhibitor steroids relative to the 3beta-HSD2 enzyme." (12530651)

inhibitor;

"Substantially higher affinity of 3beta-HSD1 activity for substrate and inhibitor steroids relative to the 3beta-HSD2 enzyme." (12530651)

transcriptional factor;LRH-1(2494)

"LRH-1 is highly expressed in corpus luteum, and it plays an essential role in the regulation of HSD3B2." (14671206)

transcriptional factor;NGFIB(3164)

"regulation of transcription by NGFIB" (15208301)

transcriptional factor;Nur77(3164)

"Nur77 is an important regulator of HSD3B2 promoter activity" (15498889)

transcriptional factor;the nerve growth factor-induced clone B family of transcription factor(3164)

"HSD3B2 is upregulated by the nerve growth factor-induced clone B family of transcription factors." (15615861)

Gene ontology

Gene ontology

GO:0006703 (P) estrogen biosynthetic process [P14060 ];
GO:0006700 (P) C21-steroid hormone biosynthetic process [P14060, P26439 ];
GO:0004769 (F) steroid delta-isomerase activity [P14060, P26439 ];
GO:0003854 (F) 3-beta-hydroxy-delta5-steroid dehydrogenase... [P14060, P26439 ];
GO:0016021 (C) integral to membrane [P14060, P26439 ];
GO:0030868 (C) smooth endoplasmic reticulum membrane [P14060, P26439 ];
GO:0005758 (C) mitochondrial intermembrane space [P14060, P26439 ];
GO:0005792 (C) microsome [P14060, P26439 ];
GO:0006702 (P) androgen biosynthetic process [P14060 ];
GO:0005488 (F) binding [P14060, P26439 ];
GO:0055114 (P) oxidation reduction [P14060, P26439 ];
GO:0005743 (C) mitochondrial inner membrane [P14060, P26439 ];

Tissue expression

Tissue From HPRD

Uterus [01941 ];
Intestine [01941 ];
Testis [01941 ];
Liver [01941 ];
Muscle [01941 ];
Brain [01941 ];
Prostate [01941, 04920 ];
Epididymis [01941 ];
Pulmonary artery [04920 ];
Adipose tissue [01941 ];
Kidney [01941 ];
Adrenal gland [01941 ];
Mammary gland [01941, 04920 ];
Heart [01941 ];
Lung [01941 ];
Ovary [01941 ];
Skin [01941, 04920 ];
Placenta [01941, 04920 ];
Vascular endothelium [04920 ];
Sebaceous gland [04920 ];
Pituitary gland [01941 ];

Tissue specificity

Adrenal glands, testes and ovaries [P26439 ];

Placenta and skin. Predominantly expressed in mammary gland tissue [P14060 ];

Subcellular localization

Localization

mitochondrion [P14060, P26439 ];

endoplasmic reticulum [P14060, P26439 ];

Disease relevance

Disease

Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormon hypersecretion [P26439 ];

Defects in HSD3B2 are the cause of adrenal hyperplasia type 2 (AH2) [MIM:201810]. AH2 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life [P26439 ];

Links

Entrez Gene

3283; 3284

HPRD

04920; 01941



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min