Tbio HSD3B7 3 beta-hydroxysteroid dehydrogenase type 7

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

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

IDG Partner Tools

GlyGen

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: 20.08   (req: < 5)

Gene RIFs: 6   (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: 20.08   (req: >= 5)

Gene RIFs: 6   (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

GWAS Traits (1)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
irritability measurement	EFO_0009594	1	1	0	5.8	19.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
irritability measurement	EFO_0009594	0	5.8	19.5

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Pathways (11)

Reactome (8)

KEGG (2)

UniProt (1)

Bile acid and bile salt metabolism (R-HSA-194068)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Bile acid and bile salt metabolism	43 targets	R-HSA-194068
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of lipids	740 targets	R-HSA-556833
Reactome	Metabolism of steroids	151 targets	R-HSA-8957322
Reactome	Synthesis of bile acids and bile salts	34 targets	R-HSA-192105

Name	Explore in Pharos	Explore in Source
Bile acid and bile salt metabolism	43 targets	R-HSA-194068
Metabolism	2112 targets	R-HSA-1430728
Metabolism of lipids	740 targets	R-HSA-556833
Metabolism of steroids	151 targets	R-HSA-8957322
Synthesis of bile acids and bile salts	34 targets	R-HSA-192105

Gene Ontology Terms (10)

Functions (4)

Components (3)

Processes (3)

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1 – 4 of 4

GO Term	Evidence	Assigned by
oxidoreductase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
3-beta-hydroxy-delta5-steroid dehydrogenase activity	Traceable Author Statement (TAS)	Reactome

Protein-Protein Interactions (59)

Explore Interacting Targets

1 – 10 of 59

• See Interactions on String-DB

CYP7B1

Tbio

Family: Enzyme

Novelty: 0.01164653

Score: 0.98

Data Source: STRINGDB

CYP7A1

Tbio

Family: Enzyme

Novelty: 0.00148194

Score: 0.977

Data Source: STRINGDB

AKR1D1

Tbio

Family: Enzyme

Novelty: 0.01264297

Score: 0.977

Data Source: STRINGDB

CYP8B1

Tbio

Family: Enzyme

Novelty: 0.01243408

Score: 0.968

Data Source: STRINGDB

POR

Tbio

Family: Enzyme

Novelty: 0.00145147

Score: 0.911

Data Source: STRINGDB

CH25H

Tbio

Family: Enzyme

Novelty: 0.01620877

Score: 0.809

Data Source: STRINGDB

SQLE

Tchem

Family: Enzyme

Novelty: 0.0059338

Score: 0.709

Data Source: STRINGDB

LSS

Tchem

Family: Enzyme

Novelty: 0.00735187

Score: 0.706

Data Source: STRINGDB

FDFT1

Tchem

Family: Enzyme

Novelty: 0.00225882

Score: 0.683

Data Source: STRINGDB

HSD17B7

Tchem

Family: Enzyme

Novelty: 0.04295724

Score: 0.666

Data Source: STRINGDB

Publication Statistics

PubMed Score  20.08

PubMed score by year

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PubTator Score  16.88

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

Alternative splicing
Complete proteome
Disease mutation
Endoplasmic reticulum
Intrahepatic cholestasis
Membrane
NAD
Oxidoreductase
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

irritability measurement

MGI Phenotype Find Similar Targets

digestive/alimentary phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
integument phenotype
liver/biliary system phenotype
mortality/aging