CASC3

Protein CASC3 is a protein that in humans is encoded by the CASC3 gene.^[5][6][7]

CASC3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2HYI, 2J0Q, 2J0S, 2J0U, 2XB2, 3EX7
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
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.1 Start 40,140,318 bp[1] End 40,172,171 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 98,695,731 bp[2] End 98,724,640 bp[2]
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 [3] [4]
Wikidata
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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.^[7]