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CASC3
Identifiers
Aliases	CASC3, BTZ, MLN51, cancer susceptibility candidate 3, cancer susceptibility 3, exon junction complex subunit, CASC3 exon junction complex subunit
External IDs	OMIM: 606504; MGI: 2179723; HomoloGene: 7208; GeneCards: CASC3; OMA:CASC3 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2HYI, 2J0Q, 2J0S, 2J0U, 2XB2, 3EX7
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.1 Start 40,140,318 bp End 40,172,171 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 98,695,731 bp End 98,724,640 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve middle frontal gyrus gastric mucosa ganglionic eminence paraflocculus of cerebellum body of uterus Brodmann area 10 popliteal artery tibial arteries ventricular zone Top expressed in tail of embryo neural layer of retina granulocyte genital tubercle ventricular zone epiblast cumulus cell ankle joint yolk sac Rostral migratory stream More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding identical protein binding enzyme binding ubiquitin protein ligase binding RNA binding Cellular component cytoplasm cytosol nuclear speck exon-exon junction complex perinuclear region of cytoplasm nucleus nucleoplasm nuclear membrane cytoplasmic stress granule dendrite cytoplasmic ribonucleoprotein granule cell projection ribonucleoprotein complex U2-type catalytic step 1 spliceosome spliceosomal complex Biological process mRNA transport mRNA processing intracellular mRNA localization RNA splicing nuclear-transcribed mRNA catabolic process, nonsense-mediated decay regulation of translation mRNA splicing, via spliceosome RNA export from nucleus termination of RNA polymerase II transcription mRNA export from nucleus mRNA 3'-end processing transport biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22794 192160 Ensembl ENSG00000108349 ENSMUSG00000078676 UniProt O15234 Q8K3W3 RefSeq (mRNA) NM_007359 NM_138660 RefSeq (protein) NP_031385 NP_619601 Location (UCSC) Chr 17: 40.14 – 40.17 Mb Chr 11: 98.7 – 98.72 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Protein CASC3 is a protein that in humans is encoded by the CASC3 gene.

Function

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.

External links

• Human CASC3 genome location and CASC3 gene details page in the UCSC Genome Browser.

Further reading

• Varis A, Wolf M, Monni O, et al. (2002). "Targets of gene amplification and overexpression at 17q in gastric cancer". Cancer Res. 62 (9): 2625–9. PMID 11980659.
• Degot S, Régnier CH, Wendling C, et al. (2002). "Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer". Oncogene. 21 (28): 4422–34. doi:10.1038/sj.onc.1205611. PMID 12080473.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Macchi P, Kroening S, Palacios IM, et al. (2003). "Barentsz, a new component of the Staufen-containing ribonucleoprotein particles in mammalian cells, interacts with Staufen in an RNA-dependent manner". J. Neurosci. 23 (13): 5778–88. doi:10.1523/jneurosci.23-13-05778.2003. PMC 6741274. PMID 12843282.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Palacios IM, Gatfield D, St Johnston D, Izaurralde E (2004). "An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay". Nature. 427 (6976): 753–7. Bibcode:2004Natur.427..753P. doi:10.1038/nature02351. PMID 14973490. S2CID 4400243.
• Degot S, Le Hir H, Alpy F, et al. (2004). "Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module". J. Biol. Chem. 279 (32): 33702–15. doi:10.1074/jbc.M402754200. PMID 15166247.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kim YK, Furic L, Desgroseillers L, Maquat LE (2005). "Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay". Cell. 120 (2): 195–208. doi:10.1016/j.cell.2004.11.050. PMID 15680326. S2CID 16786108.
• Ballut L, Marchadier B, Baguet A, et al. (2005). "The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity". Nat. Struct. Mol. Biol. 12 (10): 861–9. doi:10.1038/nsmb990. PMID 16170325. S2CID 1359792.
• Tange TØ, Shibuya T, Jurica MS, Moore MJ (2006). "Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core". RNA. 11 (12): 1869–83. doi:10.1261/rna.2155905. PMC 1370875. PMID 16314458.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Shibuya T, Tange TØ, Stroupe ME, Moore MJ (2006). "Mutational analysis of human eIF4AIII identifies regions necessary for exon junction complex formation and nonsense-mediated mRNA decay". RNA. 12 (3): 360–74. doi:10.1261/rna.2190706. PMC 1383576. PMID 16495234.
• Andersen CB, Ballut L, Johansen JS, et al. (2006). "Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA". Science. 313 (5795): 1968–72. Bibcode:2006Sci...313.1968A. doi:10.1126/science.1131981. PMID 16931718. S2CID 26409491.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Baguet A, Degot S, Cougot N, et al. (2007). "The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly". J. Cell Sci. 120 (Pt 16): 2774–84. doi:10.1242/jcs.009225. PMID 17652158.