• Gene id: 10278

Gene Summary

• Gene Symbol: EFS   Gene   UCSC   Ensembl
• Aliases: CAS3, CASS3, EFS1, EFS2, HEFS, SIN
• Gene name: embryonal Fyn-associated substrate
• Alternate names: embryonal Fyn-associated substrate, Cas scaffolding protein family member 3, signal transduction protein (SH3 containing),
• Gene location: 14q11.2 (23365632: 23356399)     Exons: 6     NC_000014.9
• Gene summary(Entrez): The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The
• OMIM: 615322

Protein Summary

• Protein general information: O43281  
  • Name: Embryonal Fyn associated substrate (hEFS) (Cas scaffolding protein family member 3)
  • Length: 561  
  • Mass: 58815
  • Tissue specificity: The protein has been detected in lung and placenta.
• Sequence:

  MAIATSTQLARALYDNTAESPQELSFRRGDVLRVLQREGAGGLDGWCLCSLHGQQGIVPANRVKLLPAGPAPKPS
  LSPASPAQPGSPYPAPDHSNEDQEVYVVPPPARPCPTSGPPAGPCPPSPDLIYKIPRASGTQLAAPRDALEVYDV
  PPTALRVPSSGPYDCPASFSHPLTRVAPQPPGEDDAPYDVPLTPKPPAELEPDLEWEGGREPGPPIYAAPSNLKR
  ASALLNLYEAPEELLADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHDQDTLAQLLARSPPPPHRPRLPSAE
  SLSRRPLPALPVPEAPSPSPVPSPAPGRKGSIQDRPLPPPPPRLPGYGGPKVEGDPEGREMEDDPAGHHNEYEGI
  PMAEEYDYVHLKGMDKAQGSRPPDQACTGDPELPERGMPAPQEALSPGEPLVVSTGDLQLLYFYAGQCQSHYSAL
  QAAVAALMSSTQANQPPRLFVPHSKRVVVAAHRLVFVGDTLGRLAASAPLRAQVRAAGTALGQALRATVLAVKGA
  ALGYPSSPAIQEMVQCVTELAGQALQFTTLLTSLAP

• Structural information:
  • Protein Domains: (5..6-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR021901  IPR037362  IPR035747  IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd12003
  • STRING: ENSP00000216733
• Other Databases: GeneCards:  EFS  Malacards:  EFS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	colocalizes with
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0090527	actin filament reorganization	IBA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0035556	intracellular signal transduction	TAS	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: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:0017124	SH3 domain binding	IEA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881