• Gene id: 6431

Gene Summary

• Gene Symbol: SRSF6   Gene   UCSC   Ensembl
• Aliases: B52, HEL-S-91, SFRS6, SRP55
• Gene name: serine and arginine rich splicing factor 6
• Alternate names: serine/arginine-rich splicing factor 6, SR splicing factor 6, epididymis secretory protein Li 91, pre-mRNA-splicing factor SRP55, splicing factor, arginine/serine-rich, 55 kDa,
• Gene location: 20q13.11 (43457863: 43463604)     Exons: 7     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another membe
• OMIM: 601944

SNPs

rs6103330

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.43458814T>A
NC_000020.11   g.43458814T>C
NC_000020.11   g.43458814T>G
NC_000020.10   g.42087454T>A
NC_000020.10   g.42087454T>C
NC_000020.10   g.42087454T>G
NG_029906.1   g.5951T>A
NG_029906.1   g.5951T>C
NG_029906.1   g.5951T>G|SEQ=[T/A/C/G]|GENE=SRS

Protein Summary

• Protein general information: Q13247  
  • Name: Serine/arginine rich splicing factor 6 (Pre mRNA splicing factor SRP55) (Splicing factor, arginine/serine rich 6)
  • Length: 344  
  • Mass: 39,587
• Sequence:

  MPRVYIGRLSYNVREKDIQRFFSGYGRLLEVDLKNGYGFVEFEDSRDADDAVYELNGKELCGERVIVEHARGPRR
  DRDGYSYGSRSGGGGYSSRRTSGRDKYGPPVRTEYRLIVENLSSRCSWQDLKDFMRQAGEVTYADAHKERTNEGV
  IEFRSYSDMKRALDKLDGTEINGRNIRLIEDKPRTSHRRSYSGSRSRSRSRRRSRSRSRRSSRSRSRSISKSRSR
  SRSRSKGRSRSRSKGRKSRSKSKSKPKSDRGSHSHSRSRSKDEYEKSRSRSRSRSPKENGKGDIKSKSRSRSQSR
  SNSPLPVPPSKARSVSPPPKRATSRSRSRSRSKSRSRSRSSSRD

• Structural information:
  • Protein Domains: RRM (1-72)
    RRM (110-183)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR034511  
  • Prosite: PS50102
  • CDD: cd12596
  • STRING: ENSP00000244020
• Other Databases: GeneCards:  SRSF6  Malacards:  SRSF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000380	alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006369	termination of RNA polymerase II transcription	TAS	biological process
GO:0006376	mRNA splice site selection	IMP	biological process
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0010837	regulation of keratinocyte proliferation	IMP	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045617	negative regulation of keratinocyte differentiation	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0061041	regulation of wound healing	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000380	alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006369	termination of RNA polymerase II transcription	TAS	biological process
GO:0006376	mRNA splice site selection	IMP	biological process
GO:0006376	mRNA splice site selection	TAS	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0010837	regulation of keratinocyte proliferation	IMP	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045617	negative regulation of keratinocyte differentiation	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0061041	regulation of wound healing	IMP	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006369	termination of RNA polymerase II transcription	TAS	biological process
GO:0006376	mRNA splice site selection	IMP	biological process
GO:0006376	mRNA splice site selection	TAS	biological process
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0010837	regulation of keratinocyte proliferation	IMP	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045617	negative regulation of keratinocyte differentiation	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0061041	regulation of wound healing	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24661730
Hypospermatogenesis	MIK: 28361989
Nonobstructive azoospermia (NOA)	MIK: 24661730
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24661730	Nonobstructive azoospermia (NOA)	SFRS9 (rs17431717, rs10849753), SFRS6 (rs6103330), SFRS4 (rs12046213)		2893 (962 Nonobstructive azoospermia (NOA), 1,931 control subjects)	Male infertility	SFRS4 SFRS6 SFRS9
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray