• Gene id: 10929

Gene Summary

• Gene Symbol: SRSF8   Gene   UCSC   Ensembl
• Aliases: DSM-1, SFRS2B, SRP46
• Gene name: serine and arginine rich splicing factor 8
• Alternate names: serine/arginine-rich splicing factor 8, SR splicing factor 8, pre-mRNA-splicing factor SRP46, splicing factor, arginine/serine-rich 2B, splicing factor, arginine/serine-rich, 46kD,
• Gene location: 11q21 (95066876: 95071226)     Exons: 1     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for
• OMIM: 603269

Protein Summary

• Protein general information: Q9BRL6  
  • Name: Serine/arginine rich splicing factor 8 (Pre mRNA splicing factor SRP46) (Splicing factor SRp46) (Splicing factor, arginine/serine rich 2B)
  • Length: 282  
  • Mass: 32288
  • Tissue specificity: Strongly expressed in pancreas, spleen and prostate. Weakly expressed in lung, liver and thymus. {ECO
• Sequence:

  MSCGRPPPDVDGMITLKVDNLTYRTSPDSLRRVFEKYGRVGDVYIPREPHTKAPRGFAFVRFHDRRDAQDAEAAM
  DGAELDGRELRVQVARYGRRDLPRSRQGEPRGRSRGGGYGRRSRSYGRRSRSPRRRHRSRSRGPSCSRSRSRSRY
  RGSRYSRSPYSRSPYSRSRYSRSPYSRSRYRESRYGGSHYSSSGYSNSRYSRYHSSRSHSKSGSSTSSRSASTSK
  SSSARRSKSSSVSRSRSRSRSSSMTRSPPRVSKRKSKSRSRSKRPPKSPEEEGQMSS

• Structural information:
  • Protein Domains: (14..9-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • PDB: 2DNM
  • PDBsum: 2DNM
  • STRING: ENSP00000480140
• Other Databases: GeneCards:  SRSF8  Malacards:  SRSF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0045292	mRNA cis splicing, via spliceosome	IBA	biological process
GO:0016607	nuclear speck	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa03040	Spliceosome

Diseases

Associated diseases	References
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)