Exosome component 3

EXOSC3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NN6
Identifiers
Aliases	EXOSC3 , PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10, CGI-102, Exosome component 3
External IDs	OMIM: 606489; MGI: 1913612; HomoloGene: 6867; GeneCards: EXOSC3; OMA:EXOSC3 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p13.2 Start 37,759,234 bp [1] End 37,832,117 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 B1 Start 45,316,613 bp [2] End 45,342,732 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte tendon of biceps brachii Achilles tendon right testis left testis gonad stromal cell of endometrium sperm ganglionic eminence Top expressed in tail of embryo genital tubercle embryo embryo yolk sac epiblast zygote spermatid ventricular zone interventricular septum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 3'-5'-exoribonuclease activity exoribonuclease activity protein binding RNA binding Cellular component cytosol nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) nucleus cytoplasm exosome (RNase complex) nucleolus nucleoplasm Biological process nuclear polyadenylation-dependent tRNA catabolic process exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) regulation of mRNA stability polyadenylation-dependent snoRNA 3'-end processing DNA deamination CUT catabolic process nuclear polyadenylation-dependent rRNA catabolic process positive regulation of isotype switching isotype switching nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' U4 snRNA 3'-end processing rRNA processing exonucleolytic catabolism of deadenylated mRNA Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51010 66362 Ensembl ENSG00000107371 ENSMUSG00000028322 UniProt Q9NQT5 Q7TQK4 RefSeq (mRNA) NM_016042 NM_001002269 NM_025513 NM_001362788 RefSeq (protein) NP_001002269 NP_057126 NP_079789 NP_001349717 Location (UCSC) Chr 9: 37.76 – 37.83 Mb Chr 4: 45.32 – 45.34 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex. ^[5]

Clinical significance

Mutations in EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000107371 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028322 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: EXOSC3 exosome component 3".
6. 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 . hdl: 2066/186951 . 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. S2CID   14817671.
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi: 10.1016/S0960-9822(01)00650-9 . PMID   11790298. S2CID   14132033.
• 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. hdl: 2066/261980 . 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. hdl: 2066/186665 . 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

External links

• Overview of all the structural information available in the PDB for UniProt : Q9NQT5 (Human Exosome complex component RRP40) at the PDBe-KB .