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CASC3 - CASC3 exon junction complex subunit Gene

Also Known as BTZ; MLN51

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22794

About CASC3

Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38): 17:40,140,537-40,172,171 (from NCBI)

This gene has 10 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in testis (RPKM 40.3), endometrium (RPKM 27.3) and 25 other tissues.

Summary

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]

CASC3 Products (1)

mRNA	Protein	Name
NM_007359.5	NP_031385.2	protein CASC3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	21478859	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	12080473	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14973490	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21478859	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	19478851	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type catalytic step 1 spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
part of exon-exon junction complex	IDA IDA: Inferred from direct assay	16601204	GOA
part of exon-exon junction complex	IPI IPI: Inferred from physical interaction	16931718	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29301961	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CASC3 Protein Structure

Btz

0
200
400
600
703 a.a.

Protein Preferred Names	Protein Names
protein CASC3	MLN 51

CASC3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CASC3	O15234	KRTAP6-2	Homo sapiens	Q3LI66	Validated Y2H	32296183
Intra	CASC3	O15234	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	CASC3	O15234	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	3D-EM	16797590
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	Validated Y2H	32296183
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	X-Ray Diffraction	16923391
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	SAXS	16931718
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	X-Ray Diffraction	20479275
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	TEM	22522823
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	GMS	20479275
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	GMS	16797590
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	Anti Tag CoIP	19478851
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	Density Sedimentation	22522823
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	TAP	18066079
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	GMS	22522823
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	3D-EM	22522823
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	TAP	16170325
Intra	CASC3	O15234	EIF4A3	Homo sapiens	P38919	X-Ray Diffraction	16931718
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	TAP	18066079
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	TAP	16170325
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	TEM	22522823
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	GMS	20479275
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	Density Sedimentation	22522823
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	GMS	22522823
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	Anti Tag CoIP	19478851
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	GMS	16797590
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	3D-EM	16797590
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	X-Ray Diffraction	16923391
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	3D-EM	22522823
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	X-Ray Diffraction	16931718
Intra	CASC3	O15234	MAGOH	Homo sapiens	P61326	X-Ray Diffraction	20479275

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3	MLASA3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01936	CASC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CASC3	VGNC	VGNC:99126
Canis familiaris	CASC3	VGNC	VGNC:54699
Mus musculus	CASC3	MGD	MGI:2179723
Rattus norvegicus	CASC3	RGD	RGD:628766
Bos taurus	CASC3	VGNC	VGNC:54702
Felis catus	CASC3	VGNC	VGNC:60376
Others	CASC3	NCBI