• Gene id: 54869

Gene Summary

• Gene Symbol: EPS8L1   Gene   UCSC   Ensembl
• Aliases: DRC3, EPS8R1, PP10566
• Gene name: EPS8 like 1
• Alternate names: epidermal growth factor receptor kinase substrate 8-like protein 1, EPS8-like protein 1, EPS8-related protein 1, epidermal growth factor receptor pathway substrate 8-related protein 1,
• Gene location: 19q13.42 (55075868: 55087922)     Exons: 22     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript varian
• OMIM: 609895

Protein Summary

• Protein general information: Q8TE68  
  • Name: Epidermal growth factor receptor kinase substrate 8 like protein 1 (EPS8 like protein 1) (Epidermal growth factor receptor pathway substrate 8 related protein 1) (EPS8 related protein 1)
  • Length: 723  
  • Mass: 80251
  • Tissue specificity: Detected in placenta. {ECO
• Sequence:

  MSTATGPEAAPKPSAKSIYEQRKRYSTVVMADVSQYPVNHLVTFCLGEDDGVHTVEDASRKLAVMDSQGRVWAQE
  MLLRVSPDHVTLLDPASKEELESYPLGAIVRCDAVMPPGRSRSLLLLVCQEPERAQPDVHFFQGLRLGAELIRED
  IQGALHNYRSGRGERRAAALRATQEELQRDRSPAAETPPLQRRPSVRAVISTVERGAGRGRPQAKPIPEAEEAQR
  PEPVGTSSNADSASPDLGPRGPDLAVLQAEREVDILNHVFDDVESFVSRLQKSAEAARVLEHRERGRRSRRRAAG
  EGLLTLRAKPPSEAEYTDVLQKIKYAFSLLARLRGNIADPSSPELLHFLFGPLQMIVNTSGGPEFASSVRRPHLT
  SDAVALLRDNVTPRENELWTSLGDSWTRPGLELSPEEGPPYRPEFFSGWEPPVTDPQSRAWEDPVEKQLQHERRR
  RQQSAPQVAVNGHRDLEPESEPQLESETAGKWVLCNYDFQARNSSELSVKQRDVLEVLDDSRKWWKVRDPAGQEG
  YVPYNILTPYPGPRLHHSQSPARSLNSTPPPPPAPAPAPPPALARPRWDRPRWDSCDSLNGLDPSEKEKFSQMLI
  VNEELQARLAQGRSGPSRAVPGPRAPEPQLSPGSDASEVRAWLQAKGFSSGTVDALGVLTGAQLFSLQKEELRAV
  SPEEGARVYSQVTVQRSLLEDKEKVSELEAVMEKQKKKVEGEVEMEVI

• Structural information:
  • Protein Domains: (478..53-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR039801  IPR033928  IPR035462  IPR011993  IPR013625   IPR006020  IPR013761  IPR041418  IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd01210 cd11764
  • PDB: 2K2M 2ROL
  • PDBsum: 2K2M 2ROL
  • STRING: ENSP00000201647
• Other Databases: GeneCards:  EPS8L1  Malacards:  EPS8L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
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:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035023	regulation of Rho protein signal transduction	IDA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0003779	actin binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0007266	Rho protein signal transduction	IDA	biological process
GO:0042608	T cell receptor binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:1900029	positive regulation of ruffle assembly	IGI	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IBA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	contributes to
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0003779	actin binding	IBA	molecular function
GO:1900029	positive regulation of ruffle assembly	IBA	biological process
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq