Exosome component 3

Exosome component 3
PDB rendering based on 2nn6.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2NN6​
Identifiers
Symbols	EXOSC3 ; CGI-102; PCH1B; RRP40; Rrp40p; bA3J10.7; hRrp-40; p10
External IDs	OMIM: 606489 MGI: 1913612 HomoloGene: 6867 GeneCards: EXOSC3 Gene
Gene ontology Molecular function • 3'-5'-exoribonuclease activity • RNA binding • exoribonuclease activity • protein binding Cellular component • nuclear exosome (RNase complex) • cytoplasmic exosome (RNase complex) • exosome (RNase complex) • nucleus • nucleolus • cytoplasm • cytosol • transcriptionally active chromatin Biological process • nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay • exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) • rRNA processing • gene expression • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' • U4 snRNA 3'-end processing • exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay • DNA deamination • isotype switching • positive regulation of isotype switching • CUT catabolic process • nuclear polyadenylation-dependent rRNA catabolic process • nuclear polyadenylation-dependent tRNA catabolic process • nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription • polyadenylation-dependent snoRNA 3'-end processing Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51010	66362
Ensembl	ENSG00000107371	ENSMUSG00000028322
UniProt	Q9NQT5	Q7TQK4
RefSeq (mRNA)	NM_001002269	NM_025513
RefSeq (protein)	NP_001002269	NP_079789
Location (UCSC)	Chr 9: 37.77 – 37.8 Mb	Chr 4: 45.32 – 45.34 Mb
PubMed search

Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.^[1]

Clinical significance

Mutations in EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.^[2]

References

1. "Entrez Gene: EXOSC3 exosome component 3".
2. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC (2012). "Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration". Nat. Genet. 44 (6): 704–8. doi:10.1038/ng.2254. PMC 3366034. PMID 22544365.

Further reading

• Allmang C, Petfalski E, Podtelejnikov A; et al. (1999). "The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases.". Genes Dev. 13 (16): 2148–58. doi:10.1101/gad.13.16.2148. PMC 316947. PMID 10465791.
• Lai CH, Chou CY, Ch'ang LY; et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
• Brouwer R, Allmang C, Raijmakers R; et al. (2001). "Three novel components of the human exosome.". J. Biol. Chem. 276 (9): 6177–84. doi:10.1074/jbc.M007603200. PMID 11110791.
• Chen CY, Gherzi R, Ong SE; et al. (2002). "AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.". Cell 107 (4): 451–64. doi:10.1016/S0092-8674(01)00578-5. PMID 11719186.
• Andersen JS, Lyon CE, Fox AH; et al. (2002). "Directed proteomic analysis of the human nucleolus.". Curr. Biol. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298.
• Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ (2002). "Protein-protein interactions of hCsl4p with other human exosome subunits.". J. Mol. Biol. 315 (4): 809–18. doi:10.1006/jmbi.2001.5265. PMID 11812149.
• Brouwer R, Vree Egberts WT, Hengstman GJ; et al. (2002). "Autoantibodies directed to novel components of the PM/Scl complex, the human exosome.". Arthritis Res. 4 (2): 134–8. doi:10.1186/ar389. PMC 83843. PMID 11879549.
• Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ (2002). "Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.". J. Mol. Biol. 323 (4): 653–63. doi:10.1016/S0022-2836(02)00947-6. PMID 12419256.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gherzi R, Lee KY, Briata P; et al. (2004). "A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery.". Mol. Cell 14 (5): 571–83. doi:10.1016/j.molcel.2004.05.002. PMID 15175153.
• Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation.". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
• 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.
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.