Tbio CASC3 Protein CASC3

Protein Summary

Description

Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer. The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O15234
• A8K8R0

Gene Name

• CASC3

Ensembl ID

• ENST00000264645
• ENSP00000264645
• ENSG00000108349

Symbol

• MLN51
• BTZ
• MLN51

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
ligand (protein) perturbation	0.96
virus perturbation	0.94
kinase perturbation	0.88
disease perturbation	0.87
histone modification site profile	0.87

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: 22.75   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 261   (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: 22.75   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 261   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

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 (362)

Explore Interacting Targets

1 – 10 of 362

• See Interactions on String-DB

CCDC9

Tdark

Novelty:  0.73149492

p_int:  0.999985638

p_ni:  0.000014362

Data Source:  BioPlex

UPF3A

Tbio

Novelty:  0.01431609

p_int:  0.999962762

p_ni:  0.000037238

Score:  0.999

Data Source:  BioPlex,Reactome,STRINGDB

PYM1

Tbio

Novelty:  0.04117785

p_int:  0.999682994

p_ni:  0.000317006

Score:  0.956

Data Source:  BioPlex,STRINGDB

PNN

Tbio

Novelty:  0.01395394

p_int:  0.999334995

p_ni:  0.000665005

Score:  0.821

Data Source:  BioPlex,STRINGDB

LUC7L2

Tdark

Novelty:  0.36989457

p_int:  0.998893212

p_ni:  0.001106788

Data Source:  BioPlex

SNIP1

Tbio

Novelty:  0.01865867

p_int:  0.998544002

p_ni:  0.001455998

Score:  0.519

Data Source:  BioPlex,STRINGDB

LARP4B

Tbio

Novelty:  0.11363794

p_int:  0.997665773

p_ni:  0.002334177

p_wrong:  5e-8

Data Source:  BioPlex

ELAVL2

Tbio

Novelty:  0.00370708

p_int:  0.996916555

p_ni:  0.003083444

Score:  0.92

Data Source:  BioPlex,STRINGDB

GSPT2

Tchem

Family:  Enzyme

Novelty:  0.08140512

p_int:  0.992365325

p_ni:  0.007634658

p_wrong:  1.7e-8

Score:  0.916

Data Source:  BioPlex,STRINGDB

MCRIP2

Tdark

Novelty:  1.50465727

p_int:  0.988254228

p_ni:  0.011745761

p_wrong:  1.2e-8

Data Source:  BioPlex

Nearest Tclin Targets

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

Pathways (18)

Reactome (16)

KEGG (2)

Axon guidance (R-HSA-422475)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	Developmental Biology	1055 targets	R-HSA-1266738
Reactome	Gene expression (Transcription)	1452 targets	R-HSA-74160
Reactome	Metabolism of RNA	686 targets	R-HSA-8953854
Reactome	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	117 targets	R-HSA-975957

Name	Explore in Pharos	Explore in Source
Axon guidance	533 targets	R-HSA-422475
Developmental Biology	1055 targets	R-HSA-1266738
Gene expression (Transcription)	1452 targets	R-HSA-74160
Metabolism of RNA	686 targets	R-HSA-8953854
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	117 targets	R-HSA-975957

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (19)

Functions (4)

Components (8)

Processes (7)

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10

1 – 4 of 4

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Direct Assay (IDA)	MGI
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB
ubiquitin protein ligase binding	Inferred from Physical Interaction (IPI)	UniProtKB
RNA binding	Inferred from High Throughput Direct Assay (HDA)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (19)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 19

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
sex hormone-binding globulin measurement	EFO_0004696	4	1	4		75.6
high density lipoprotein cholesterol measurement	EFO_0004612	2	2	2		69.6
multiple sclerosis	EFO_0003885	1	1	0	1.1	59.5
mathematical ability	EFO_0004875	2	1	2		49.5
mitochondrial DNA measurement	EFO_0006312	1	1	1		48.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 19

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
sex hormone-binding globulin measurement	EFO_0004696	4		75.6
high density lipoprotein cholesterol measurement	EFO_0004612	2		69.6
multiple sclerosis	EFO_0003885	0	1.1	59.5
mathematical ability	EFO_0004875	2		49.5
mitochondrial DNA measurement	EFO_0006312	1		48.5

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
ADP-ribosylation
Cell projection
Coiled coil
Complete proteome
Cytoplasm
mRNA processing
mRNA splicing
mRNA transport
Nonsense-mediated mRNA decay

GWAS Trait Find Similar Targets

No Header	No Header
chronic obstructive pulmonary disease
eosinophil count
feeling miserable measurement
granulocyte count
hair color
high density lipoprotein cholesterol measurement
household income
leukocyte count
mathematical ability
mitochondrial DNA measurement

MGI Phenotype Find Similar Targets

No Header	No Header
embryo phenotype
growth/size/body region phenotype
limbs/digits/tail phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	cancer susceptibility 3		454646
Mouse	cancer susceptibility candidate 3	MGI:2179723	192160
Rat	cancer susceptibility 3	RGD:628766	259170
Dog	CASC3, exon junction complex subunit	VGNC:54699	480528
Horse	CASC3, exon junction complex subunit	VGNC:54696	100067814

Species	Name	OMA	EggNOG	Inparanoid
Chimp	cancer susceptibility 3
Mouse	cancer susceptibility candidate 3
Rat	cancer susceptibility 3
Dog	CASC3, exon junction complex subunit
Horse	CASC3, exon junction complex subunit

Publication Statistics

PubMed Score 22.75

PubMed score by year

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PubTator Score 24.11

PubTator score by year

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Related Publications

Text Mined References (36)

GeneRif Annotations (7)

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PMID	Year	Title