Exosome component 3: Difference between revisions

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{{Underlinked|date=May 2016}}
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{{Infobox_gene}}
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'''Exosome component 3''', also known as '''EXOSC3''', is a human [[gene]], which is part of the [[exosome complex]].<ref name="entrez">{{cite web | title = Entrez Gene: EXOSC3 exosome component 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51010| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{GNF_Protein_box
| image = PBB_Protein_EXOSC3_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2nn6.
| PDB = {{PDB2|2nn6}}
| Name = Exosome component 3
| HGNCid = 17944
| Symbol = EXOSC3
| AltSymbols =; p10; RP11-3J10.8; CGI-102; MGC15120; MGC723; RRP40; Rrp40p; bA3J10.7; hRrp40p
| OMIM = 606489
| ECnumber = 
| Homologene = 6867
| MGIid = 1913612
| GeneAtlas_image1 = PBB_GE_EXOSC3_gnf1h00198_at_tn.png
| Function = {{GNF_GO|id=GO:0000175 |text = 3'-5'-exoribonuclease activity}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0004527 |text = exonuclease activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0000176 |text = nuclear exosome (RNase complex)}} {{GNF_GO|id=GO:0000177 |text = cytoplasmic exosome (RNase complex)}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006364 |text = rRNA processing}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 51010
    | Hs_Ensembl = ENSG00000107371
    | Hs_RefseqProtein = NP_001002269
    | Hs_RefseqmRNA = NM_001002269
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 37770308
    | Hs_GenLoc_end = 37775065
    | Hs_Uniprot = Q9NQT5
    | Mm_EntrezGene = 66362
    | Mm_Ensembl = ENSMUSG00000028322
    | Mm_RefseqmRNA = NM_025513
    | Mm_RefseqProtein = NP_079789
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 45337713
    | Mm_GenLoc_end = 45341698
    | Mm_Uniprot = Q7TQK4
  }}
}}
'''Exosome component 3''', also known as '''EXOSC3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EXOSC3 exosome component 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51010| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Mutations in '''EXOSC3''' cause {{SWL | target=pontocerebellar hypoplasia | label= pontocerebellar hypoplasia | type =genetic_defect_results_in_disease}} and spinal motor neuron degeneration.<ref name="pmid22544365">{{cite journal | vauthors = 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 | title = Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration | journal = Nat. Genet. | volume = 44 | issue = 6 | pages = 704–8 | year = 2012 | pmid = 22544365 | pmc = 3366034 | doi = 10.1038/ng.2254 }}</ref>
{{PBB_Summary
 
| section_title =  
== References ==
| summary_text =  
{{reflist}}
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Allmang C, Petfalski E, Podtelejnikov A |title=The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases. |journal=Genes Dev. |volume=13 |issue= 16 |pages= 2148–58 |year= 1999 |pmid= 10465791 |doi=  10.1101/gad.13.16.2148| pmc=316947  |display-authors=etal}}
| citations =
*{{cite journal  | vauthors=Lai CH, Chou CY, Ch'ang LY |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi=  10.1101/gr.10.5.703| pmc=310876  |display-authors=etal}}
*{{cite journal  | author=Allmang C, Petfalski E, Podtelejnikov A, ''et al.'' |title=The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases. |journal=Genes Dev. |volume=13 |issue= 16 |pages= 2148-58 |year= 1999 |pmid= 10465791 |doi=  }}
*{{cite journal  | vauthors=Brouwer R, Allmang C, Raijmakers R |title=Three novel components of the human exosome. |journal=J. Biol. Chem. |volume=276 |issue= 9 |pages= 6177–84 |year= 2001 |pmid= 11110791 |doi= 10.1074/jbc.M007603200 |display-authors=etal}}
*{{cite journal  | author=Lai CH, Chou CY, Ch'ang LY, ''et al.'' |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703-13 |year= 2000 |pmid= 10810093 |doi=  }}
*{{cite journal  | vauthors=Chen CY, Gherzi R, Ong SE |title=AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. |journal=Cell |volume=107 |issue= 4 |pages= 451–64 |year= 2002 |pmid= 11719186 |doi=10.1016/S0092-8674(01)00578-5 |display-authors=etal}}
*{{cite journal  | author=Brouwer R, Allmang C, Raijmakers R, ''et al.'' |title=Three novel components of the human exosome. |journal=J. Biol. Chem. |volume=276 |issue= 9 |pages= 6177-84 |year= 2001 |pmid= 11110791 |doi= 10.1074/jbc.M007603200 }}
*{{cite journal  | vauthors=Andersen JS, Lyon CE, Fox AH |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=10.1016/S0960-9822(01)00650-9 |display-authors=etal}}
*{{cite journal  | author=Chen CY, Gherzi R, Ong SE, ''et al.'' |title=AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. |journal=Cell |volume=107 |issue= 4 |pages= 451-64 |year= 2002 |pmid= 11719186 |doi=  }}
*{{cite journal  | vauthors=Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions of hCsl4p with other human exosome subunits. |journal=J. Mol. Biol. |volume=315 |issue= 4 |pages= 809–18 |year= 2002 |pmid= 11812149 |doi= 10.1006/jmbi.2001.5265 }}
*{{cite journal  | author=Andersen JS, Lyon CE, Fox AH, ''et al.'' |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1-11 |year= 2002 |pmid= 11790298 |doi=  }}
*{{cite journal  | vauthors=Brouwer R, Vree Egberts WT, Hengstman GJ |title=Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. |journal=Arthritis Res. |volume=4 |issue= 2 |pages= 134–8 |year= 2002 |pmid= 11879549 |doi=  10.1186/ar389| pmc=83843  |display-authors=etal}}
*{{cite journal  | author=Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions of hCsl4p with other human exosome subunits. |journal=J. Mol. Biol. |volume=315 |issue= 4 |pages= 809-18 |year= 2002 |pmid= 11812149 |doi= 10.1006/jmbi.2001.5265 }}
*{{cite journal  | vauthors=Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. |journal=J. Mol. Biol. |volume=323 |issue= 4 |pages= 653–63 |year= 2002 |pmid= 12419256 |doi=10.1016/S0022-2836(02)00947-6 }}
*{{cite journal  | author=Brouwer R, Vree Egberts WT, Hengstman GJ, ''et al.'' |title=Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. |journal=Arthritis Res. |volume=4 |issue= 2 |pages= 134-8 |year= 2002 |pmid= 11879549 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. |journal=J. Mol. Biol. |volume=323 |issue= 4 |pages= 653-63 |year= 2002 |pmid= 12419256 |doi=  }}
*{{cite journal  | vauthors=Gherzi R, Lee KY, Briata P |title=A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. |journal=Mol. Cell |volume=14 |issue= 5 |pages= 571–83 |year= 2004 |pmid= 15175153 |doi= 10.1016/j.molcel.2004.05.002 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 | pmc=442147 }}
*{{cite journal  | author=Gherzi R, Lee KY, Briata P, ''et al.'' |title=A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. |journal=Mol. Cell |volume=14 |issue= 5 |pages= 571-83 |year= 2004 |pmid= 15175153 |doi= 10.1016/j.molcel.2004.05.002 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315-23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 }}
*{{cite journal  | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=51010}}
 
 
{{gene-9-stub}}

Latest revision as of 04:16, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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