• Gene id: 140890

Gene Summary

• Gene Symbol: SREK1   Gene   UCSC   Ensembl
• Aliases: SFRS12, SRrp508, SRrp86
• Gene name: splicing regulatory glutamic acid and lysine rich protein 1
• Alternate names: splicing regulatory glutamine/lysine-rich protein 1, serine-arginine-rich splicing regulatory protein 508, serine/arginine-rich-splicing regulatory protein 86, splicing factor, arginine/serine-rich 12, splicing regulatory glutamic acid/lysine-rich protein 1,
• Gene location: 5q12.3 (66144299: 66183615)     Exons: 15     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript
• OMIM: 607892

Protein Summary

• Protein general information: Q8WXA9  
  • Name: Splicing regulatory glutamine/lysine rich protein 1 (Serine/arginine rich splicing regulatory protein 86) (SRrp86) (Splicing factor, arginine/serine rich 12) (Splicing regulatory protein 508) (SRrp508)
  • Length: 508  
  • Mass: 59380
• Sequence:

  MTSLMPGAGLLPIPTPNPLTTLGVSLSSLGAIPAAALDPNIATLGEIPQPPLMGNVDPSKIDEIRRTVYVGNLNS
  QTTTADQLLEFFKQVGEVKFVRMAGDETQPTRFAFVEFADQNSVPRALAFNGVMFGDRPLKINHSNNAIVKPPEM
  TPQAAAKELEEVMKRVREAQSFISAAIEPESGKSNERKGGRSRSHTRSKSRSSSKSHSRRKRSQSKHRSRSHNRS
  RSRQKDRRRSKSPHKKRSKSRERRKSRSRSHSRDKRKDTREKIKEKERVKEKDREKEREREKEREKEKERGKNKD
  RDKEREKDREKDKEKDREREREKEHEKDRDKEKEKEQDKEKEREKDRSKEIDEKRKKDKKSRTPPRSYNASRRSR
  SSSRERRRRRSRSSSRSPRTSKTIKRKSSRSPSPRSRNKKDKKREKERDHISERRERERSTSMRKSSNDRDGKEK
  LEKNSTSLKEKEHNKEPDSSVSKEVDDKDAPRTEENKIQHNGNCQLNEENLSTKTEAV

• Structural information:
  • Protein Domains: (66..14-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR033568  IPR034192  
  • Prosite: PS50102
  • CDD: cd12260
  • STRING: ENSP00000334538
• Other Databases: GeneCards:  SREK1  Malacards:  SREK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq