• Gene id: 51010

Gene Summary

• Gene Symbol: EXOSC3   Gene   UCSC   Ensembl
• Aliases: CGI-102, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10
• Gene name: exosome component 3
• Alternate names: exosome complex component RRP40, exosome complex exonuclease RRP40, ribosomal RNA-processing protein 40,
• Gene location: 9p13.2 (37785091: 37779713)     Exons: 1     NC_000009.12
• Gene summary(Entrez): This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Al
• OMIM: 606489

Protein Summary

• Protein general information: Q9NQT5  
  • Name: Exosome complex component RRP40 (Exosome component 3) (Ribosomal RNA processing protein 40) (p10)
  • Length: 275  
  • Mass: 29572
• Sequence:

  MAEPASVAAESLAGSRARAARTVLGQVVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPGLRRCG
  DRLLVTKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGAT
  KRNRPNVQVGDLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKLLAPDCEIIQEVGKLY
  PLEIVFGMNGRIWVKAKTIQQTLILANILEACEHMTSDQRKQIFSRLAES

• Structural information:
  • Interpro: IPR026699  IPR004088  IPR036612  IPR012340  IPR037319  
  • CDD: cd05790
  • PDB: 2NN6 6D6Q 6D6R 6H25
  • PDBsum: 2NN6 6D6Q 6D6R 6H25
  • DIP: 29847
  • STRING: ENSP00000323046
• Other Databases: GeneCards:  EXOSC3  Malacards:  EXOSC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000176	nuclear exosome (RNase complex)	IBA	cellular component
GO:0000177	cytoplasmic exosome (RNase complex)	IBA	cellular component
GO:0000178	exosome (RNase complex)	IBA	cellular component
GO:0000467	exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0034475	U4 snRNA 3'-end processing	IBA	biological process
GO:0071034	CUT catabolic process	IBA	biological process
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0034427	nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'	IBA	biological process
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	IBA	biological process
GO:0071038	nuclear polyadenylation-dependent tRNA catabolic process	IBA	biological process
GO:0071049	nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription	IBA	biological process
GO:0071051	polyadenylation-dependent snoRNA 3'-end processing	IBA	biological process
GO:0004532	exoribonuclease activity	IDA	NOT|molecular function
GO:0045006	DNA deamination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071034	CUT catabolic process	IMP	biological process
GO:0035327	transcriptionally active chromatin	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045190	isotype switching	ISS	biological process
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0045190	isotype switching	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0000177	cytoplasmic exosome (RNase complex)	IDA	cellular component
GO:0000176	nuclear exosome (RNase complex)	IDA	cellular component
GO:0006364	rRNA processing	IDA	biological process
GO:0000175	3'-5'-exoribonuclease activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)