• Gene id: 5394

Gene Summary

• Gene Symbol: EXOSC10   Gene   UCSC   Ensembl
• Aliases: PM-Scl, PM/Scl-100, PMSCL, PMSCL2, RRP6, Rrp6p, p2, p3, p4
• Gene name: exosome component 10
• Alternate names: exosome component 10, P100 polymyositis-scleroderma overlap syndrome-associated autoantigen, autoantigen PM-SCL, polymyositis/scleroderma autoantigen 100 kDa, polymyositis/scleroderma autoantigen 2,
• Gene location: 1p36.22 (11099909: 11066612)     Exons: 25     NC_000001.11
• OMIM: 605960

Protein Summary

• Protein general information: Q01780  
  • Name: Exosome component 10 (EC 3.1.13. ) (Autoantigen PM/Scl 2) (P100 polymyositis scleroderma overlap syndrome associated autoantigen) (Polymyositis/scleroderma autoantigen 100 kDa) (PM/Scl 100) (Polymyositis/scleroderma autoantigen 2)
  • Length: 885  
  • Mass: 100,831
• Sequence:

  MAPPSTREPRVLSATSATKSDGEMVLPGFPDADSFVKFALGSVVAVTKASGGLPQFGDEYDFYRSFPGFQAFCET
  QGDRLLQCMSRVMQYHGCRSNIKDRSKVTELEDKFDLLVDANDVILERVGILLDEASGVNKNQQPVLPAGLQVPK
  TVVSSWNRKAAEYGKKAKSETFRLLHAKNIIRPQLKFREKIDNSNTPFLPKIFIKPNAQKPLPQALSKERRERPQ
  DRPEDLDVPPALADFIHQQRTQQVEQDMFAHPYQYELNHFTPADAVLQKPQPQLYRPIEETPCHFISSLDELVEL
  NEKLLNCQEFAVDLEHHSYRSFLGLTCLMQISTRTEDFIIDTLELRSDMYILNESLTDPAIVKVFHGADSDIEWL
  QKDFGLYVVNMFDTHQAARLLNLGRHSLDHLLKLYCNVDSNKQYQLADWRIRPLPEEMLSYARDDTHYLLYIYDK
  MRLEMWERGNGQPVQLQVVWQRSRDICLKKFIKPIFTDESYLELYRKQKKHLNTQQLTAFQLLFAWRDKTARRED
  ESYGYVLPNHMMLKIAEELPKEPQGIIACCNPVPPLVRQQINEMHLLIQQAREMPLLKSEVAAGVKKSGPLPSAE
  RLENVLFGPHDCSHAPPDGYPIIPTSGSVPVQKQASLFPDEKEDNLLGTTCLIATAVITLFNEPSAEDSKKGPLT
  VAQKKAQNIMESFENPFRMFLPSLGHRAPVSQAAKFDPSTKIYEISNRWKLAQVQVQKDSKEAVKKKAAEQTAAR
  EQAKEACKAAAEQAISVRQQVVLENAAKKRERATSDPRTTEQKQEKKRLKISKKPKDPEPPEKEFTPYDYSQSDF
  KAFAGNSKSKVSSQFDPNKQTPSGKKCIAAKKIKQSVGNKSMSFPTGKSDRGFRYNWPQR

• Structural information:
  • Protein Domains: HRDC. (503-583)
  • Interpro: IPR002562  IPR012588  IPR010997  IPR002121  IPR012337  
  • Prosite: PS50967
  • PDB: 2CPR 3SAF 3SAG 3SAH
  • PDBsum: 2CPR 3SAF 3SAG 3SAH
  • DIP: 31249
  • STRING: ENSP00000366135
• Other Databases: GeneCards:  EXOSC10  Malacards:  EXOSC10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000176	nuclear exosome (RNase complex)	IEA	cellular component
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0004532	exoribonuclease activity	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0009048	dosage compensation by inactivation of X chromosome	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0035327	transcriptionally active chromatin	IMP	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0071034	CUT catabolic process	IMP	biological process
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IMP	biological process
GO:0071044	histone mRNA catabolic process	IMP	biological process
GO:0071048	nuclear retention of unspliced pre-mRNA at the site of transcription	IMP	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000176	nuclear exosome (RNase complex)	IEA	cellular component
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0004532	exoribonuclease activity	IDA	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:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0006364	rRNA processing	TAS	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IEA	molecular function
GO:0009048	dosage compensation by inactivation of X chromosome	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0035327	transcriptionally active chromatin	IMP	cellular component
GO:0044237	cellular metabolic process	IEA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0071034	CUT catabolic process	IMP	biological process
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IMP	biological process
GO:0071044	histone mRNA catabolic process	IMP	biological process
GO:0071048	nuclear retention of unspliced pre-mRNA at the site of transcription	IMP	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000175	3'-5'-exoribonuclease activity	EXP	molecular function
GO:0000178	exosome (RNase complex)	IDA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0004532	exoribonuclease activity	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0035327	transcriptionally active chromatin	IMP	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0071034	CUT catabolic process	IMP	biological process
GO:0071035	nuclear polyadenylation-dependent rRNA catabolic process	IMP	biological process
GO:0071044	histone mRNA catabolic process	IMP	biological process
GO:0071048	nuclear retention of unspliced pre-mRNA at the site of transcription	IMP	biological process

Diseases

Associated diseases	References
Endometriosis	INFBASE: 3688812
Sperm DNA damage	MIK: 16291969
Male factor infertility	MIK: 16403801
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 16403801
Spermatogenic defects	MIK: 16291969
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16403801	Male infertility			193 (166 male infertility patients, 27 men of known fertility)	Male infertility	P1 P2
16291969	Sperm DNA damage			149 (37 patients with abnormally low P1/P2 ratios, 99 patients with normal P1/P2 ratios, 13 patients with abnormally high P1/P2 ratios)	Male infertility	P1 P2
8328025	Male infertility				Male infertility	P2
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