• Gene id: 26751

Gene Summary

• Gene Symbol: SH3YL1   Gene   UCSC   Ensembl
• Aliases: RAY
• Gene name: SH3 and SYLF domain containing 1
• Alternate names: SH3 domain-containing YSC84-like protein 1, SH3 domain containing, Ysc84-like 1,
• Gene location: 2p25.3 (264865: 218135)     Exons: 19     NC_000002.12
• OMIM: 617314

Protein Summary

• Protein general information: Q96HL8  
  • Name: SH3 domain containing YSC84 like protein 1
  • Length: 342  
  • Mass: 37148
• Sequence:

  MNNPIPSNLKSEAKKAAKILREFTEITSRNGPDKIIPAHVIAKAKGLAILSVIKAGFLVTARGGSGIVVARLPDG
  KWSAPSAIGIAGLGGGFEIGIEVSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVF
  TYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARK
  AAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPG
  DLNFQAGDRITVISKTDSHFDWWEGKLRGQTGIFPANYVTMN

• Structural information:
  • Protein Domains: (283..34-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR036028  IPR001452  IPR035511  IPR033643  IPR007461  
  • Prosite: PS50002
  • CDD: cd11841 cd11525
  • PDB: 2D8H
  • PDBsum: 2D8H
  • STRING: ENSP00000348471
• Other Databases: GeneCards:  SH3YL1  Malacards:  SH3YL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900027	regulation of ruffle assembly	IBA	biological process
GO:0032587	ruffle membrane	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0032587	ruffle membrane	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0019902	phosphatase binding	IDA	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:0006661	phosphatidylinositol biosynthetic process	IEA	biological process
GO:1900027	regulation of ruffle assembly	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq