• Gene id: 55269

Gene Summary

• Gene Symbol: PSPC1   Gene   UCSC   Ensembl
• Aliases: PSP1
• Gene name: paraspeckle component 1
• Alternate names: paraspeckle component 1, paraspeckle protein 1,
• Gene location: 13q12.11 (19783035: 19674751)     Exons: 16     NC_000013.11
• Gene summary(Entrez): This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon
• OMIM: 612408

Protein Summary

• Protein general information: Q8WXF1  
  • Name: Paraspeckle component 1 (Paraspeckle protein 1)
  • Length: 523  
  • Mass: 58744
  • Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. {ECO
• Sequence:

  MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGE
  KTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIR
  FATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTT
  TPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREA
  KEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQ
  QEGFKPNYMENREQEMRMGDMGPRGAINMGDAFSPAPAGNQGPPPMMGMNMNNRATIPGPPMGPGPAMGPEGAAN
  MGTPMMPDNGAVHNDRFPQGPPSQMGSPMGSRTGSETPQAPMSGVGPVSGGPGGFGRGSQGGNFEGPNKRRRY

• Structural information:
  • Protein Domains: (82..15-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (156..23-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012975  IPR012677  IPR034522  IPR034523  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12586 cd12589
  • PDB: 3SDE 5IFN 5WPA
  • PDBsum: 3SDE 5IFN 5WPA
  • DIP: 39028
  • STRING: ENSP00000343966
• Other Databases: GeneCards:  PSPC1  Malacards:  PSPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0070888	E-box binding	ISS	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	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:0003723	RNA binding	IEA	molecular function
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0042382	paraspeckles	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq