• Gene id: 5393

Gene Summary

• Gene Symbol: EXOSC9   Gene   UCSC   Ensembl
• Aliases: PCH1D, PM/Scl-75, PMSCL1, RRP45, Rrp45p, p5, p6
• Gene name: exosome component 9
• Alternate names: exosome complex component RRP45, P75 polymyositis-scleroderma overlap syndrome associated autoantigen, PMSCL autoantigen, 75kD, autoantigen PM/Scl 1, exosome complex exonuclease RRP45, polymyositis/scleroderma autoantigen 1, 75kDa,
• Gene location: 4q27 (121801322: 121817020)     Exons: 14     NC_000004.12
• Gene summary(Entrez): This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternati
• OMIM: 606180

Protein Summary

• Protein general information: Q06265  
  • Name: Exosome complex component RRP45 (Autoantigen PM/Scl 1) (Exosome component 9) (P75 polymyositis scleroderma overlap syndrome associated autoantigen) (Polymyositis/scleroderma autoantigen 1) (Polymyositis/scleroderma autoantigen 75 kDa) (PM/Scl 75)
  • Length: 439  
  • Mass: 48949
• Sequence:

  MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRNIRISFGTDYGCCIVELGKTRVLGQVSCELVSPKLNRATEGI
  LFFNLELSQMAAPAFEPGRQSDLLVKLNRLMERCLRNSKCIDTESLCVVAGEKVWQIRVDLHLLNHDGNIIDAAS
  IAAIVALCHFRRPDVSVQGDEVTLYTPEERDPVPLSIHHMPICVSFAFFQQGTYLLVDPNEREERVMDGLLVIAM
  NKHREICTIQSSGGIMLLKDQVLRCSKIAGVKVAEITELILKALENDQKVRKEGGKFGFAESIANQRITAFKMEK
  APIDTSDVEEKAEEIIAEAEPPSEVVSTPVLWTPGTAQIGEGVENSWGDLEDSEKEDDEGGGDQAIILDGIKMDT
  GVEVSDIGSQDAPIILSDSEEEEMIILEPDKNPKKIRTQTTSAKQEKAPSKKPVKRRKKKRAAN

• Structural information:
  • Interpro: IPR001247  IPR015847  IPR036345  IPR027408  IPR020568   IPR033100  
  • CDD: cd11368
  • PDB: 2NN6 6D6Q 6D6R 6H25
  • PDBsum: 2NN6 6D6Q 6D6R 6H25
  • DIP: 31286
  • STRING: ENSP00000368984
• Other Databases: GeneCards:  EXOSC9  Malacards:  EXOSC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071042	nuclear polyadenylation-dependent mRNA catabolic process	IBA	biological process
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IBA	biological process
GO:0034476	U5 snRNA 3'-end processing	IBA	biological process
GO:0034475	U4 snRNA 3'-end processing	IBA	biological process
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:0000177	cytoplasmic exosome (RNase complex)	IBA	cellular component
GO:0000176	nuclear exosome (RNase complex)	IBA	cellular component
GO:0071038	nuclear polyadenylation-dependent tRNA catabolic process	IBA	biological process
GO:0071028	nuclear mRNA surveillance	IBA	biological process
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	IBA	biological process
GO:0034473	U1 snRNA 3'-end processing	IBA	biological process
GO:0034427	nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'	IBA	biological process
GO:0017091	AU-rich element binding	IBA	molecular function
GO:0016075	rRNA catabolic process	IBA	biological process
GO:0004532	exoribonuclease activity	IDA	NOT|molecular function
GO:0000176	nuclear exosome (RNase complex)	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IMP	biological process
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0006396	RNA processing	IEA	biological process
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005730	nucleolus	TAS	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:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0035925	mRNA 3'-UTR AU-rich region binding	IDA	molecular function
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0000176	nuclear exosome (RNase complex)	NAS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	NAS	molecular function
GO:0000175	3'-5'-exoribonuclease activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006955	immune response	NAS	biological process
GO:0006364	rRNA processing	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R