• Gene id: 58513

Gene Summary

• Gene Symbol: EPS15L1   Gene   UCSC   Ensembl
• Aliases: EPS15R
• Gene name: epidermal growth factor receptor pathway substrate 15 like 1
• Alternate names: epidermal growth factor receptor substrate 15-like 1, epidermal growth factor receptor substrate EPS15R, eps15-related protein,
• Gene location: 19p13.11 (16472011: 16355243)     Exons: 27     NC_000019.10
• OMIM: 606600

Protein Summary

• Protein general information: Q9UBC2  
  • Name: Epidermal growth factor receptor substrate 15 like 1 (Eps15 related protein) (Eps15R)
  • Length: 864  
  • Mass: 94255
• Sequence:

  MAAPLIPLSQQIPTGNSLYESYYKQVDPAYTGRVGASEAALFLKKSGLSDIILGKIWDLADPEGKGFLDKQGFYV
  ALRLVACAQSGHEVTLSNLNLSMPPPKFHDTSSPLMVTPPSAEAHWAVRVEEKAKFDGIFESLLPINGLLSGDKV
  KPVLMNSKLPLDVLGRVWDLSDIDKDGHLDRDEFAVAMHLVYRALEKEPVPSALPPSLIPPSKRKKTVFPGAVPV
  LPASPPPKDSLRSTPSHGSVSSLNSTGSLSPKHSLKQTQPTVNWVVPVADKMRFDEIFLKTDLDLDGYVSGQEVK
  EIFMHSGLTQNLLAHIWALADTRQTGKLSKDQFALAMYFIQQKVSKGIDPPQVLSPDMVPPSERGTPGPDSSGSL
  GSGEFTGVKELDDISQEIAQLQREKYSLEQDIREKEEAIRQKTSEVQELQNDLDRETSSLQELEAQKQDAQDRLD
  EMDQQKAKLRDMLSDVRQKCQDETQMISSLKTQIQSQESDLKSQEDDLNRAKSELNRLQQEETQLEQSIQAGRVQ
  LETIIKSLKSTQDEINQARSKLSQLHESRQEAHRSLEQYDQVLDGAHGASLTDLANLSEGVSLAERGSFGAMDDP
  FKNKALLFSNNTQELHPDPFQTEDPFKSDPFKGADPFKGDPFQNDPFAEQQTTSTDPFGGDPFKESDPFRGSATD
  DFFKKQTKNDPFTSDPFTKNPSLPSKLDPFESSDPFSSSSVSSKGSDPFGTLDPFGSGSFNSAEGFADFSQMSKP
  PPSGPFTSSLGGAGFSDDPFKSKQDTPALPPKKPAPPRPKPPSGKSTPVSQLGSADFPEAPDPFQPLGADSGDPF
  QSKKGFGDPFSGKDPFVPSSAAKPSKASASGFADFTSVS

• Structural information:
  • Protein Domains: (15..10-)
    (/note="EH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (127..21-)
    (/note="EH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (159..19-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR000261  
  • Prosite: PS00018 PS50222 PS50031
  • CDD: cd00052
  • STRING: ENSP00000393313
• Other Databases: GeneCards:  EPS15L1  Malacards:  EPS15L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030132	clathrin coat of coated pit	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	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: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:0061024	membrane organization	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030132	clathrin coat of coated pit	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

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