• Gene id: 6433

Gene Summary

• Gene Symbol: SFSWAP   Gene   UCSC   Ensembl
• Aliases: SFRS8, SWAP
• Gene name: splicing factor SWAP
• Alternate names: splicing factor, suppressor of white-apricot homolog, splicing factor SWAP homolog, splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila), splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila ho,
• Gene location: 12q24.33 (131711087: 131799737)     Exons: 20     NC_000012.12
• Gene summary(Entrez): This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript
• OMIM: 606978

Protein Summary

• Protein general information: Q12872  
  • Name: Splicing factor, suppressor of white apricot homolog (Splicing factor, arginine/serine rich 8) (Suppressor of white apricot protein homolog)
  • Length: 951  
  • Mass: 104822
• Sequence:

  MYGASGGRAKPERKSGAKEEAGPGGAGGGGSRVELLVFGYACKLFRDDERALAQEQGQHLIPWMGDHKILIDRYD
  GRGHLHDLSEYDAEYSTWNRDYQLSEEEARIEALCDEERYLALHTDLLEEEARQEEEYKRLSEALAEDGSYNAVG
  FTYGSDYYDPSEPTEEEEPSKQREKNEAENLEENEEPFVAPLGLSVPSDVELPPTAKMHAIIERTASFVCRQGAQ
  FEIMLKAKQARNSQFDFLRFDHYLNPYYKFIQKAMKEGRYTVLAENKSDEKKKSGVSSDNEDDDDEEDGNYLHPS
  LFASKKCNRLEELMKPLKVVDPDHPLAALVRKAQADSSTPTPHNADGAPVQPSQVEYTADSTVAAMYYSYYMLPD
  GTYCLAPPPPGIDVTTYYSTLPAGVTVSNSPGVTTTAPPPPGTTPLPPPTTAETSSGATSTTTTTSALAPVAAII
  PPPPDVQPVIDKLAEYVARNGLKFETSVRAKNDQRFEFLQPWHQYNAYYEFKKQFFLQKEGGDSMQAVSAPEEAP
  TDSAPEKPSDAGEDGAPEDAAEVGARAGSGGKKEASSSKTVPDGKLVKASFAPISFAIKAKENDLLPLEKNRVKL
  DDDSDDDEESKEGQESSSSAANTNPAVAPPCVVVEEKKPQLTQEELEAKQAKQKLEDRLAAAAREKLAQASKESK
  EKQLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPR
  EEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRSRSRSPRRRAHSPERRREERSV
  PTAYRVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGS
  SQERSRGVSQEKEAQISSAIVSSVQSKITQDLMAKVRAMLAASKNLQTSAS

• Structural information:
  • Interpro: IPR000061  IPR040397  IPR035967  IPR019147  
  • Prosite: PS50128
  • PDB: 2E5Z 2E60
  • PDBsum: 2E5Z 2E60
  • STRING: ENSP00000437738
• Other Databases: GeneCards:  SFSWAP  Malacards:  SFSWAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000395	mRNA 5'-splice site recognition	IBA	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	ISS	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000395	mRNA 5'-splice site recognition	IEA	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq