InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD3B7

Summary

InnateDB Protein

IDBP-27473.5

Last Modified

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

Gene Symbol

HSD3B7

Protein Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000297679

InnateDB Gene

IDBG-27469 (HSD3B7)

Protein Structure

UniProt Annotation

Function

The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, chirrosis. {ECO:0000269PubMed:11067870, ECO:0000269PubMed:12679481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [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:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity
GO:0050662	coenzyme binding

Biological Process

GO:0006694	steroid biosynthetic process
GO:0006699	bile acid biosynthetic process
GO:0008152	metabolic process
GO:0008206	bile acid metabolic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005575	cellular_component
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of 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