Tbio HSD3B7 3 beta-hydroxysteroid dehydrogenase type 7

Protein Summary

Description

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 (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Uniprot Accession IDs

• Q9H2F3
• Q96M28
• Q9BSN9

Gene Name

• HSD3B7

Ensembl ID

• ENST00000262520
• ENSP00000262520
• ENSG00000099377
• ENST00000297679
• ENSP00000297679

Symbol

• CBAS1
• PFIC4
• SDR11E3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor	0.75
kinase perturbation	0.71
tissue sample	0.65
histone modification site profile	0.6
pathway	0.56

Protein Classes

PANTHER Classes

Protein / Oxidoreductase / 3 Beta-hydroxysteroid Dehydrogenase Type 7

Protein / Lyase / Dehydratase / 3 Beta-hydroxysteroid Dehydrogenase Type 7

Protein / Isomerase / Epimerase/racemase / 3 Beta-hydroxysteroid Dehydrogenase Type 7

DTO Classes

Protein / Enzyme / Isomerase / Epimerase/racemase / 3 Beta-hydroxysteroid Dehydrogenase Type 7

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 24.37   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 168   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 24.37   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 168   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0