InnateDB Protein
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IDBP-47222.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CASC3
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Protein Name
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cancer susceptibility candidate 3
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Synonyms
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BTZ; MLN51;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000264645
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InnateDB Gene
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IDBG-47220 (CASC3)
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Protein Structure
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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}.
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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}.
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Disease Associations |
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Tissue Specificity |
Widely expressed. Overexpressed in breast cancers and metastasis, as well as in gastric cancers. {ECO:0000269PubMed:12080473}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
23
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR018545
Btz domain
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PFAM |
PF09405
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PRINTS |
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PIRSF |
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SMART |
SM01044
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TIGRFAMs |
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Modification |
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SwissProt |
O15234
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PhosphoSite |
PhosphoSite-O15234
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TrEMBL |
A0A024R1X0
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UniProt Splice Variant |
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Entrez Gene |
22794
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UniGene |
Hs.743287
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RefSeq |
NP_031385
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HUGO |
HGNC:17040
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OMIM |
606504
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CCDS |
CCDS11362
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HPRD |
16225
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IMGT |
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EMBL |
AC068669
AK292425
BC044656
BC050526
CH471152
X80199
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GenPept |
AAH44656
AAH50526
BAF85114
CAC27699
EAW60643
EAW60644
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