• Gene id: 29924

Gene Summary

• Gene Symbol: EPN1   Gene   UCSC   Ensembl
• Gene name: epsin 1
• Alternate names: epsin-1, EH domain-binding mitotic phosphoprotein, EPS-15-interacting protein 1,
• Gene location: 19q13.42 (55675194: 55709532)     Exons: 13     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain can
• OMIM: 607262

Protein Summary

• Protein general information: Q9Y6I3  
  • Name: Epsin 1 (EH domain binding mitotic phosphoprotein) (EPS 15 interacting protein 1)
  • Length: 576  
  • Mass: 60293
• Sequence:

  MSTSSLRRQMKNIVHNYSEAEIKVREATSNDPWGPSSSLMSEIADLTYNVVAFSEIMSMIWKRLNDHGKNWRHVY
  KAMTLMEYLIKTGSERVSQQCKENMYAVQTLKDFQYVDRDGKDQGVNVREKAKQLVALLRDEDRLREERAHALKT
  KEKLAQTATASSAAVGSGPPPEAEQAWPQSSGEEELQLQLALAMSKEEADQPPSCGPEDDAQLQLALSLSREEHD
  KEERIRRGDDLRLQMAIEESKRETGGKEESSLMDLADVFTAPAPAPTTDPWGGPAPMAAAVPTAAPTSDPWGGPP
  VPPAADPWGGPAPTPASGDPWRPAAPAGPSVDPWGGTPAPAAGEGPTPDPWGSSDGGVPVSGPSASDPWTPAPAF
  SDPWGGSPAKPSTNGTTAAGGFDTEPDEFSDFDRLRTALPTSGSSAGELELLAGEVPARSPGAFDMSGVRGSLAE
  AVGSPPPAATPTPTPPTRKTPESFLGPNAALVDLDSLVSRPGPTPPGAKASNPFLPGGGPATGPSVTNPFQPAPP
  ATLTLNQLRLSPVPPVPGAPPTYISPLGGGPGLPPMMPPGPPAPNTNPFLL

• Structural information:
  • Protein Domains: (12..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243-)
    (183..20-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (208..22-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (-)
  • Interpro: IPR013809  IPR008942  IPR003903  
  • Prosite: PS50942 PS50330
  • PDB: 1INZ 1KYD
  • PDBsum: 1INZ 1KYD
  • STRING: ENSP00000406209
• Other Databases: GeneCards:  EPN1  Malacards:  EPN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IBA	cellular component
GO:0030125	clathrin vesicle coat	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0030276	clathrin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007565	female pregnancy	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:1903671	negative regulation of sprouting angiogenesis	IGI	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

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