• Gene id: 51013

Gene Summary

• Gene Symbol: EXOSC1   Gene   UCSC   Ensembl
• Aliases: CGI-108, CSL4, Csl4p, SKI4, Ski4p, p13
• Gene name: exosome component 1
• Alternate names: exosome complex component CSL4, 3'-5' exoribonuclease CSL4 homolog, exosomal core protein CSL4, homolog of yeast exosomal core protein CSL4,
• Gene location: 10q24.1 (97446016: 97435908)     Exons: 22     NC_000010.11
• Gene summary(Entrez): This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein i
• OMIM: 606493

Protein Summary

• Protein general information: Q9Y3B2  
  • Name: Exosome complex component CSL4 (Exosome component 1)
  • Length: 195  
  • Mass: 21452
• Sequence:

  MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKSSENGALPVVSVVRETESQLLPDVGAIVTCKV
  SSINSRFAKVHILYVGSMPLKNSFRGTIRKEDVRATEKDKVEIYKSFRPGDIVLAKVISLGDAQSNYLLTTAENE
  LGVVVAHSESGIQMVPISWCEMQCPKTHTKEFRKVARVQPEFLQT

• Structural information:
  • Protein Domains: (66..14-)
    (/note="S1-motif")
  • Interpro: IPR039771  IPR019495  IPR025721  IPR012340  IPR022967  
  • PDB: 2NN6 6D6Q 6D6R 6H25
  • PDBsum: 2NN6 6D6Q 6D6R 6H25
  • DIP: 31261
  • STRING: ENSP00000359939
• Other Databases: GeneCards:  EXOSC1  Malacards:  EXOSC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000176	nuclear exosome (RNase complex)	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004532	exoribonuclease activity	IDA	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	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: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:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000178	exosome (RNase complex)	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq