• Gene id: 55040

Gene Summary

• Gene Symbol: EPN3   Gene   UCSC   Ensembl
• Gene name: epsin 3
• Alternate names: epsin-3, EPS-15-interacting protein 3,
• Gene location: 17q21.33 (50532734: 50543749)     Exons: 10     NC_000017.11
• OMIM: 607264

Protein Summary

• Protein general information: Q9H201  
  • Name: Epsin 3 (EPS 15 interacting protein 3)
  • Length: 632  
  • Mass: 68222
  • Tissue specificity: Detected in migrating keratinocytes from wounded skin, but not in differentiating keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis. {ECO
• Sequence:

  MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTVAFTEVMGMLWRRLNDSGKNWRHVY
  KALTLLDYLLKTGSERVAHQCRENLYTIQTLKDFQYIDRDGKDQGVNVREKVKQVMALLKDEERLRQERTHALKT
  KERMALEGIGIGSGQLGFSRRYGEDYSRSRGSPSSYNSSSSSPRYTSDLEQARPQTSGEEELQLQLALAMSREEA
  EKPVPPASHRDEDLQLQLALRLSRQEHEKEVRSWQGDGSPMANGAGAVVHHQRDREPEREERKEEEKLKTSQSSI
  LDLADIFVPALAPPSTHCSADPWDIPGFRPNTEASGSSWGPSADPWSPIPSGTVLSRSQPWDLTPMLSSSEPWGR
  TPVLPAGPPTTDPWALNSPHHKLPSTGADPWGASLETSDTPGGASTFDPFAKPPESTETKEGLEQALPSGKPSSP
  VELDLFGDPSPSSKQNGTKEPDALDLGILGEALTQPSKEARACRTPESFLGPSASSLVNLDSLVKAPQVAKTRNP
  FLTGLSAPSPTNPFGAGEPGRPTLNQMRTGSPALGLAGGPVGAPLGSMTYSASLPLPLSSVPAGLTLPASVSVFP
  QAGAFAPQPLLPTPSSAGPRPPPPQTGTNPFL

• Structural information:
  • Protein Domains: (12..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243-)
    (209..22-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (236..25-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213"-)
  • Interpro: IPR013809  IPR008942  IPR027318  IPR003903  
  • Prosite: PS50942 PS50330
  • STRING: ENSP00000268933
• Other Databases: GeneCards:  EPN3  Malacards:  EPN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0030125	clathrin vesicle coat	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0006897	endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:1990175	EH domain binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0019897	extrinsic component of plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881