CASC3
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| CASC3, exon junction complex subunit | MIM:606504 | Ensembl:ENSG00000108349 | HGNC:HGNC:17040 | PA134948596 | 17q21.1 |
GO terms in CASC3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IDA | GO:0042802 | identical protein binding |
| BP | TAS | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006405 | RNA export from nucleus |
| BP | TAS | GO:0006406 | mRNA export from nucleus |
| BP | IEA | GO:0006417 | regulation of translation |
| BP | ND | GO:0008150 | biological_process |
| BP | IEA | GO:0008298 | intracellular mRNA localization |
| BP | IBA | GO:0016070 | RNA metabolic process |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0010494 | cytoplasmic stress granule |
| CC | IEA | GO:0016607 | nuclear speck |
| CC | IEA | GO:0030425 | dendrite |
| CC | IDA | GO:0031965 | nuclear membrane |
| CC | IBA | GO:0035145 | exon-exon junction complex |
| CC | IDA | GO:0035145 | exon-exon junction complex |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
Gene expression in normal tissue: CASC3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CASC3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-376176 | Signaling by ROBO receptors |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
| reactome | R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| reactome | R-HSA-927802 | Nonsense-Mediated Decay (NMD) |
| reactome | R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| kegg | hsa03013 | RNA transport - Homo sapiens (human) |
| kegg | hsa03015 | mRNA surveillance pathway - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CASC3
CLASSFICATION
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