Homo sapiens Protein: CASC3
Summary
InnateDB Protein IDBP-47222.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CASC3
Protein Name cancer susceptibility candidate 3
Synonyms BTZ; MLN51;
Species Homo sapiens
Ensembl Protein ENSP00000264645
InnateDB Gene IDBG-47220 (CASC3)
Protein Structure
UniProt Annotation
Function 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. {ECO:0000269PubMed:17375189, ECO:0000269PubMed:17652158}.
Subcellular Localization Cytoplasm, perinuclear region. Nucleus. Nucleus speckle. Note=Predominantly found in the perinuclear region (By similarity). Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Shuttles between the cytoplasm and the stress granules. More specifically found in nuclear intrachromatin granules clusters (IGC), also called nuclear speckles, which are storage compartments for nuclear proteins involved in mRNA processing. Colocalizes in nuclear speckles with MAGOH. Under stress condition, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC core factors, in cytoplasmic stress granules, which contain stored mRNAs whose translation is stopped in response to stress. {ECO:0000250}.
Disease Associations
Tissue Specificity Widely expressed. Overexpressed in breast cancers and metastasis, as well as in gastric cancers. {ECO:0000269PubMed:12080473}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0006397 mRNA processing
GO:0006417 regulation of translation
GO:0006950 response to stress
GO:0008150 biological_process
GO:0008298 intracellular mRNA localization
GO:0008380 RNA splicing
GO:0010467 gene expression
GO:0016070 RNA metabolic process
GO:0016071 mRNA metabolic process
GO:0051028 mRNA transport
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0030529 ribonucleoprotein complex
GO:0035145 exon-exon junction complex
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR018545 Btz domain
PFAM PF09405
PRINTS
PIRSF
SMART SM01044
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O15234
PhosphoSite PhosphoSite-O15234
TrEMBL A0A024R1X0
UniProt Splice Variant
Entrez Gene 22794
UniGene Hs.743287
RefSeq NP_031385
HUGO HGNC:17040
OMIM 606504
CCDS CCDS11362
HPRD 16225
IMGT
EMBL AC068669 AK292425 BC044656 BC050526 CH471152 X80199
GenPept AAH44656 AAH50526 BAF85114 CAC27699 EAW60643 EAW60644