• Gene id: 54512

Gene Summary

• Gene Symbol: EXOSC4   Gene   UCSC   Ensembl
• Aliases: RRP41, RRP41A, Rrp41p, SKI6, Ski6p, hRrp41p, p12A
• Gene name: exosome component 4
• Alternate names: exosome complex component RRP41, exosome complex exonuclease RRP41, exosome component Rrp41, ribosomal RNA-processing protein 41,
• Gene location: 8q24.3 (144064060: 144080647)     Exons: 4     NC_000008.11
• OMIM: 606491

Protein Summary

• Protein general information: Q9NPD3  
  • Name: Exosome complex component RRP41 (Exosome component 4) (Ribosomal RNA processing protein 41) (p12A)
  • Length: 245  
  • Mass: 26383
• Sequence:

  MAGLELLSDQGYRVDGRRAGELRKIQARMGVFAQADGSAYIEQGNTKALAVVYGPHEIRGSRARALPDRALVNCQ
  YSSATFSTGERKRRPHGDRKSCEMGLQLRQTFEAAILTQLHPRSQIDIYVQVLQADGGTYAACVNAATLAVLDAG
  IPMRDFVCACSAGFVDGTALADLSHVEEAAGGPQLALALLPASGQIALLEMDARLHEDHLERVLEAAAQAARDVH
  TLLDRVVRQHVREASILLGD

• Structural information:
  • Interpro: IPR001247  IPR015847  IPR036345  IPR027408  IPR020568  
  • PDB: 2NN6 6D6Q 6D6R 6H25
  • PDBsum: 2NN6 6D6Q 6D6R 6H25
  • DIP: 31165
  • STRING: ENSP00000315476
• Other Databases: GeneCards:  EXOSC4  Malacards:  EXOSC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016075	rRNA catabolic process	IBA	biological process
GO:0034427	nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'	IBA	biological process
GO:0071028	nuclear mRNA surveillance	IBA	biological process
GO:0071051	polyadenylation-dependent snoRNA 3'-end processing	IBA	biological process
GO:0000176	nuclear exosome (RNase complex)	IBA	cellular component
GO:0000177	cytoplasmic exosome (RNase complex)	IBA	cellular component
GO:0005730	nucleolus	IBA	cellular component
GO:0034475	U4 snRNA 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:0035327	transcriptionally active chromatin	IMP	cellular component
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0051607	defense response to virus	IMP	biological process
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:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035925	mRNA 3'-UTR AU-rich region binding	IDA	molecular function
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0006364	rRNA processing	NAS	biological process
GO:0071044	histone mRNA catabolic process	IMP	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0000175	3'-5'-exoribonuclease activity	NAS	molecular function
GO:0005730	nucleolus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray