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: 21.2   (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: 21.2   (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

Expression Data (0 Tissues)

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No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

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

Tchem

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

Tchem

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

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

Viral Interactions (0)

No viral interactions found

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

Disease Associations (null)

No disease associations found

GWAS Traits (31)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
psoriasis	EFO_0000676	4	4	0	1.2	83.8
mean reticulocyte volume	EFO_0010701	1	1	1		82.8
mean corpuscular volume	EFO_0004526	1	1	1		82.2
response to anticoagulant	GO_0061476	1	1	0	20.4	81
triglyceride measurement	EFO_0004530	2	2	1	2.1	68.1

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 31

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
psoriasis	EFO_0000676	0	1.2	83.8
mean reticulocyte volume	EFO_0010701	1		82.8
mean corpuscular volume	EFO_0004526	1		82.2
response to anticoagulant	GO_0061476	0	20.4	81
triglyceride measurement	EFO_0004530	1	2.1	68.1

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UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Complete proteome
Disease mutation
Endoplasmic reticulum
Intrahepatic cholestasis
Membrane
NAD
Oxidoreductase
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
basophil percentage of leukocytes
body height
body mass index
diastolic blood pressure
eosinophil count
erythrocyte count
feeling tense measurement
gait measurement
heel bone mineral density
hematocrit

MGI Phenotype Find Similar Targets

No Header	No Header
digestive/alimentary phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
integument phenotype
liver/biliary system phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	VGNC:13757	454059
Mouse	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	MGI:2141879	101502
Dog	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	VGNC:41811	489917
Horse	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	VGNC:18890	100063491
Cow	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	VGNC:29978	540229

Species	Name	OMA	EggNOG	Inparanoid
Chimp	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Mouse	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Dog	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Horse	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Cow	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Publication Statistics

PubMed Score 21.20

PubMed score by year

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PubTator Score 16.88

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Related Publications

Text Mined References (16)

GeneRif Annotations (6)

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PMID	Year	Title