• Gene id: 6421

Gene Summary

• Gene Symbol: SFPQ   Gene   UCSC   Ensembl
• Aliases: POMP100, PPP1R140, PSF
• Gene name: splicing factor proline and glutamine rich
• Alternate names: splicing factor, proline- and glutamine-rich, 100 kDa DNA-pairing protein, DNA-binding p52/p100 complex, 100 kDa subunit, PTB-associated splicing factor, epididymis secretory sperm binding protein, polypyrimidine tract binding protein associated, polypyrimidine,
• Gene location: 1p34.3 (35193173: 35176377)     Exons: 13     NC_000001.11
• OMIM: 605199

Protein Summary

• Protein general information: P23246  
  • Name: Splicing factor, proline and glutamine rich (100 kDa DNA pairing protein) (hPOMp100) (DNA binding p52/p100 complex, 100 kDa subunit) (Polypyrimidine tract binding protein associated splicing factor) (PSF) (PTB associated splicing factor)
  • Length: 707  
  • Mass: 76149
• Sequence:

  MSRDRFRSRGGGGGGFHRRGGGGGRGGLHDFRSPPPGMGLNQNRGPMGPGPGQSGPKPPIPPPPPHQQQQQPPPQ
  QPPPQQPPPHQPPPHPQPHQQQQPPPPPQDSSKPVVAQGPGPAPGVGSAPPASSSAPPATPPTSGAPPGSGPGPT
  PTPPPAVTSAPPGAPPPTPPSSGVPTTPPQAGGPPPPPAAVPGPGPGPKQGPGPGGPKGGKMPGGPKPGGGPGLS
  TPGGHPKPPHRGGGEPRGGRQHHPPYHQQHHQGPPPGGPGGRSEEKISDSEGFKANLSLLRRPGEKTYTQRCRLF
  VGNLPADITEDEFKRLFAKYGEPGEVFINKGKGFGFIKLESRALAEIAKAELDDTPMRGRQLRVRFATHAAALSV
  RNLSPYVSNELLEEAFSQFGPIERAVVIVDDRGRSTGKGIVEFASKPAARKAFERCSEGVFLLTTTPRPVIVEPL
  EQLDDEDGLPEKLAQKNPMYQKERETPPRFAQHGTFEYEYSQRWKSLDEMEKQQREQVEKNMKDAKDKLESEMED
  AYHEHQANLLRQDLMRRQEELRRMEELHNQEMQKRKEMQLRQEEERRRREEEMMIRQREMEEQMRRQREESYSRM
  GYMDPRERDMRMGGGGAMNMGDPYGSGGQKFPPLGGGGGIGYEANPGVPPATMSGSMMGSDMRTERFGQGGAGPV
  GGQGPRGMGPGTPAGYGRGREEYEGPNKKPRF

• Structural information:
  • Protein Domains: (297..36-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (371..45-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012975  IPR012677  IPR034526  IPR034525  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12948 cd12587
  • PDB: 4WII 4WIJ 4WIK 5WPA 6NCQ
  • PDBsum: 4WII 4WIJ 4WIK 5WPA 6NCQ
  • DIP: 31272
  • STRING: ENSP00000349748
• Other Databases: GeneCards:  SFPQ  Malacards:  SFPQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1902177	positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003676	nucleic acid binding	IBA	molecular function
GO:0000380	alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0042382	paraspeckles	IDA	cellular component
GO:0002218	activation of innate immune response	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0070932	histone H3 deacetylation	ISS	biological process
GO:0042754	negative regulation of circadian rhythm	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0070888	E-box binding	ISS	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	IMP	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	TAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
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:0098963	dendritic transport of messenger ribonucleoprotein complex	IEA	biological process
GO:0070932	histone H3 deacetylation	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0051276	chromosome organization	IEA	biological process
GO:0042754	negative regulation of circadian rhythm	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045876	positive regulation of sister chromatid cohesion	IEA	biological process
GO:0042382	paraspeckles	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0042382	paraspeckles	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881