InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD3B2

Summary

InnateDB Protein

IDBP-101501.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSD3B2

Protein Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Synonyms

HSD3B; HSDB; SDR11E2;

Species

Homo sapiens

Ensembl Protein

ENSP00000358424

InnateDB Gene

IDBG-101499 (HSD3B2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.

Disease Associations

Adrenal hyperplasia 2 (AH2) [MIM:201810]: 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. {ECO:0000269PubMed:10599696, ECO:0000269PubMed:10651755, ECO:0000269PubMed:10843183, ECO:0000269PubMed:12050213, ECO:0000269PubMed:18252794, ECO:0000269PubMed:22579964, ECO:0000269PubMed:7608265, ECO:0000269PubMed:7633426, ECO:0000269PubMed:7633460, ECO:0000269PubMed:7833923, ECO:0000269PubMed:7893703, ECO:0000269PubMed:7962268, ECO:0000269PubMed:8060486, ECO:0000269PubMed:8126127, ECO:0000269PubMed:8185809, ECO:0000269PubMed:8316254, ECO:0000269PubMed:9719627}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. {ECO:0000269PubMed:14764797}.

Tissue Specificity

Expressed in adrenal gland, testis and ovary.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0004769	steroid delta-isomerase activity
GO:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0050662	coenzyme binding

Biological Process

GO:0006694	steroid biosynthetic process
GO:0006702	androgen biosynthetic process
GO:0006704	glucocorticoid biosynthetic process
GO:0006705	mineralocorticoid biosynthetic process
GO:0008152	metabolic process
GO:0008202	steroid metabolic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005743	mitochondrial inner membrane
GO:0005758	mitochondrial intermembrane space
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0030868	smooth endoplasmic reticulum membrane
GO:0031966	mitochondrial membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001509 NAD-dependent epimerase/dehydratase, N-terminal domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
IPR003869 Polysaccharide biosynthesis protein, CapD-like domain
IPR005913 dTDP-4-dehydrorhamnose reductase
IPR008030 NmrA-like domain
IPR013120 Male sterility, NAD-binding
IPR013968 Polyketide synthase, KR

PFAM