Tchem NOTCH3 Neurogenic locus notch homolog protein 3

Protein Summary

Description

Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q9UM47
• Q9UEB3
• Q9UPL3
• Q9Y6L8
• Notch 3

Gene Name

• NOTCH3

Ensembl ID

• ENST00000263388
• ENSP00000263388
• ENSG00000074181

Symbol

• IMF2
• LMNS
• CASIL
• CADASIL
• CADASIL1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
biological term	0.98
disease perturbation	0.93
cell type or tissue	0.81
PubMedID	0.8

Protein Classes

No PANTHER Classes or DTO Classes found

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: 1148.71   (req: < 5)

Gene RIFs: 305   (req: <= 3)

Antibodies: 655   (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: 1148.71   (req: >= 5)

Gene RIFs: 305   (req: > 3)

Antibodies: 655   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

Tchem

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

Active Ligands: 54

Tclin

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

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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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 (54)

Explore Active Ligands

1 – 10 of 54

CHEMBL3410161

NOTCH3Tchem

pIC50 : 9

CHEMBL3410169

NOTCH3Tchem

pIC50 : 9

CHEMBL3410163

NOTCH3Tchem

pIC50 : 9

CHEMBL3410153

NOTCH3Tchem

pIC50 : 9

US9273014, 24

NOTCH3Tchem

pIC50 : 8.85

US9273014, 20

NOTCH3Tchem

pIC50 : 8.85

US9273014, 25

NOTCH3Tchem

pIC50 : 8.77

US9273014, 3

NOTCH3Tchem

pIC50 : 8.74

CHEMBL3410170

NOTCH3Tchem

pIC50 : 8.7

CHEMBL3410168

NOTCH3Tchem

pIC50 : 8.7

Protein-Protein Interactions (208)

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1 – 10 of 208

• See Interactions on String-DB

HIF1AN

Tbio

Novelty:  0.00861018

p_int:  0.999999305

p_ni:  6.95e-7

p_wrong:  1e-9

Score:  0.375

Data Source:  BioPlex,STRINGDB

ANKRD44

Tdark

Family:  Enzyme

Novelty:  0.38360979

p_int:  0.999915535

p_ni:  0.000084458

p_wrong:  7e-9

Score:  0.347

Data Source:  BioPlex,STRINGDB

PPP1R12B

Tbio

Family:  Enzyme

Novelty:  0.0424259

p_int:  0.994802865

p_ni:  0.005197131

p_wrong:  4e-9

Score:  0.176

Data Source:  BioPlex,STRINGDB

RBPJ

Tchem

Family:  TF

Novelty:  0.00168834

p_int:  0.994284286

p_ni:  0.005715431

p_wrong:  2.83e-7

Score:  0.995

Data Source:  BioPlex,Reactome,STRINGDB

DLK2

Tbio

Novelty:  0.06366405

p_int:  0.992306434

p_ni:  0.007692187

p_wrong:  0.000001379

Score:  0.189

Data Source:  BioPlex,STRINGDB

ADAM33

Tchem

Family:  Enzyme

Novelty:  0.00584097

p_int:  0.987737007

p_ni:  0.012262985

p_wrong:  8e-9

Score:  0.224

Data Source:  BioPlex,STRINGDB

ADAM32

Tdark

Family:  Enzyme

Novelty:  0.36071191

p_int:  0.982284194

p_ni:  0.017715798

p_wrong:  8e-9

Score:  0.174

Data Source:  BioPlex,STRINGDB

DNAJC10

Tbio

Novelty:  0.02258366

p_int:  0.982284194

p_ni:  0.017715798

p_wrong:  8e-9

Data Source:  BioPlex

RXFP1

Tchem

Family:  GPCR

Novelty:  0.00580827

p_int:  0.977606611

p_ni:  0.022305342

p_wrong:  0.000088047

Data Source:  BioPlex

ZNF408

Tbio

Family:  TF

Novelty:  0.10649477

p_int:  0.968713905

p_ni:  0.031285885

p_wrong:  2.1e-7

Data Source:  BioPlex

Nearest Tclin Targets (1)

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Upstream (1)

1 – 1 of 1

THRA

Tclin

Family:  Nuclear Receptor

KEGG Distance:  1

Common Pathways:  1

1: Thyroid hormone signaling pathway

Pathways (47)

Reactome (18)

KEGG (9)

PathwayCommons (12)

WikiPathways (8)

Defective LFNG causes SCDO3 (R-HSA-5083630)

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5

1 – 5 of 18

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Defective LFNG causes SCDO3	5 targets	R-HSA-5083630
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with O-glycosylation of proteins	71 targets	R-HSA-3906995
Reactome	Diseases of glycosylation	146 targets	R-HSA-3781865
Reactome	Gene expression (Transcription)	1452 targets	R-HSA-74160

Name	Explore in Pharos	Explore in Source
Defective LFNG causes SCDO3	5 targets	R-HSA-5083630
Disease	1105 targets	R-HSA-1643685
Diseases associated with O-glycosylation of proteins	71 targets	R-HSA-3906995
Diseases of glycosylation	146 targets	R-HSA-3781865
Gene expression (Transcription)	1452 targets	R-HSA-74160

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (25)

Functions (5)

Components (9)

Processes (11)

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1 – 5 of 5

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
signaling receptor activity	Inferred from Mutant Phenotype (IMP)	UniProtKB
cadherin binding	Inferred from High Throughput Direct Assay (HDA)	BHF-UCL
calcium ion binding	Inferred from Electronic Annotation (IEA)	InterPro
enzyme binding	Inferred from Electronic Annotation (IEA)	Ensembl

Disease Associations ()

No disease associations found

GWAS Traits (6)

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5

1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean corpuscular volume	EFO_0004526	1	1	1		63.7
mean reticulocyte volume	EFO_0010701	1	1	1		57.8
reticulocyte measurement	EFO_0010700	1	1	1		56.4
platelet count	EFO_0004309	1	1	1		52.7
Anti-Toxoplasma gondii IgG measurement	EFO_0009353	1	1	1		15.8

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5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean corpuscular volume	EFO_0004526	1		63.7
mean reticulocyte volume	EFO_0010701	1		57.8
reticulocyte measurement	EFO_0010700	1		56.4
platelet count	EFO_0004309	1		52.7
Anti-Toxoplasma gondii IgG measurement	EFO_0009353	1		15.8

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Activator
ANK repeat
Cell membrane
Complete proteome
Developmental protein
Differentiation
Disease mutation
Disulfide bond
EGF-like domain

GWAS Trait Find Similar Targets

No Header	No Header
Anti-Toxoplasma gondii IgG measurement
mean corpuscular volume
mean reticulocyte volume
platelet count
platelet crit
reticulocyte measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype

IDG Resources

No IDG generated resources found

Orthologs (8)

1 – 5 of 8

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	notch 3	VGNC:2302	455792
Mouse	notch 3	MGI:99460	18131
Rat	notch 3	RGD:620761	56761
Dog	notch 3	VGNC:43899	610439
Horse	notch 3	VGNC:20818	100146771

Species	Name	OMA	EggNOG	Inparanoid
Chimp	notch 3
Mouse	notch 3
Rat	notch 3
Dog	notch 3
Horse	notch 3

Publication Statistics

PubMed Score 1148.71

PubMed score by year

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PubTator Score 776.74

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Related Publications

Text Mined References (341)

GeneRif Annotations (305)

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PMID	Year	Title