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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Epidermal growth factor receptor substrate 15''' is a [[protein]] that in humans is encoded by the ''EPS15'' [[gene]].<ref name="pmid8183552">{{cite journal | vauthors = Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, Di Fiore PP | title = The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32 | journal = Oncogene | volume = 9 | issue = 6 | pages = 1591–7 | date = Jun 1994 | pmid = 8183552 | pmc = | doi = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_EPS15_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1c07.
| PDB = {{PDB2|1c07}}, {{PDB2|1eh2}}, {{PDB2|1f8h}}, {{PDB2|1ff1}}, {{PDB2|1qjt}}
| Name = Epidermal growth factor receptor pathway substrate 15
| HGNCid = 3419
| Symbol = EPS15
| AltSymbols =; AF-1P; AF1P; MLLT5
| OMIM = 600051
| ECnumber = 
| Homologene = 81627
| MGIid = 104583
| GeneAtlas_image1 = PBB_GE_EPS15_217887_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_EPS15_217886_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005905 |text = coated pit}}
| Process = {{GNF_GO|id=GO:0007173 |text = epidermal growth factor receptor signaling pathway}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0016050 |text = vesicle organization and biogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2060
    | Hs_Ensembl = ENSG00000085832
    | Hs_RefseqProtein = NP_001972
    | Hs_RefseqmRNA = NM_001981
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 51592523
    | Hs_GenLoc_end = 51757588
    | Hs_Uniprot = P42566
    | Mm_EntrezGene = 13858
    | Mm_Ensembl = ENSMUSG00000028552
    | Mm_RefseqmRNA = NM_007943
    | Mm_RefseqProtein = NP_031969
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 108778200
    | Mm_GenLoc_end = 108885749
    | Mm_Uniprot = Q8C431
  }}
}}
'''Epidermal growth factor receptor pathway substrate 15''', also known as '''EPS15''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in [[Acute myeloid leukemia|acute myelogeneous leukemias]]. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.<ref name="entrez">{{cite web | title = Entrez Gene: EPS15 epidermal growth factor receptor pathway substrate 15| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2060| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.<ref name="entrez">{{cite web | title = Entrez Gene: EPS15 epidermal growth factor receptor pathway substrate 15| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2060| accessdate = }}</ref>
}}


==References==
==Model organisms==
{{reflist|2}}
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
{{refbegin | 2}}
|+ ''Eps15'' knockout mouse phenotype
{{PBB_Further_reading
|-
| citations =  
! Characteristic!! Phenotype
*{{cite journal  | author=Schumacher C, Knudsen BS, Ohuchi T, ''et al.'' |title=The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R. |journal=J. Biol. Chem. |volume=270 |issue= 25 |pages= 15341-7 |year= 1995 |pmid= 7797522 |doi=  }}
|-
*{{cite journal  | author=Bernard OA, Mauchauffe M, Mecucci C, ''et al.'' |title=A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL. |journal=Oncogene |volume=9 |issue= 4 |pages= 1039-45 |year= 1994 |pmid= 8134107 |doi=  }}
| [[Homozygote]] viability || bgcolor="#488ED3"|Normal
*{{cite journal  | author=Wong WT, Kraus MH, Carlomagno F, ''et al.'' |title=The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. |journal=Oncogene |volume=9 |issue= 6 |pages= 1591-7 |year= 1994 |pmid= 8183552 |doi=  }}
|-
*{{cite journal  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
| Fertility || bgcolor="#488ED3"|Normal
*{{cite journal  | author=Benmerah A, Bégue B, Dautry-Varsat A, Cerf-Bensussan N |title=The ear of alpha-adaptin interacts with the COOH-terminal domain of the Eps 15 protein. |journal=J. Biol. Chem. |volume=271 |issue= 20 |pages= 12111-6 |year= 1996 |pmid= 8662627 |doi=  }}
|-
*{{cite journal  | author=Matsuda M, Ota S, Tanimura R, ''et al.'' |title=Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins. |journal=J. Biol. Chem. |volume=271 |issue= 24 |pages= 14468-72 |year= 1996 |pmid= 8662907 |doi= }}
| Body weight || bgcolor="#488ED3"|Normal
*{{cite journal  | author=van Delft S, Schumacher C, Hage W, ''et al.'' |title=Association and colocalization of Eps15 with adaptor protein-2 and clathrin. |journal=J. Cell Biol. |volume=136 |issue= 4 |pages= 811-21 |year= 1997 |pmid= 9049247 |doi= }}
|-
*{{cite journal  | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi= }}
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
*{{cite journal | author=Tebar F, Confalonieri S, Carter RE, ''et al.'' |title=Eps15 is constitutively oligomerized due to homophilic interaction of its coiled-coil region. |journal=J. Biol. Chem. |volume=272 |issue= 24 |pages= 15413-8 |year= 1997 |pmid= 9182572 |doi= }}
|-
*{{cite journal | author=Salcini AE, Confalonieri S, Doria M, ''et al.'' |title=Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. |journal=Genes Dev. |volume=11 |issue= 17 |pages= 2239-49 |year= 1997 |pmid= 9303539 |doi= }}
| Neurological assessment || bgcolor="#488ED3"|Normal
*{{cite journal | author=Cupers P, ter Haar E, Boll W, Kirchhausen T |title=Parallel dimers and anti-parallel tetramers formed by epidermal growth factor receptor pathway substrate clone 15. |journal=J. Biol. Chem. |volume=272 |issue= 52 |pages= 33430-4 |year= 1998 |pmid= 9407139 |doi= }}
|-
*{{cite journal | author=Haffner C, Takei K, Chen H, ''et al.'' |title=Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. |journal=FEBS Lett. |volume=419 |issue= 2-3 |pages= 175-80 |year= 1998 |pmid= 9428629 |doi= }}
| Grip strength || bgcolor="#488ED3"|Normal
*{{cite journal | author=Benmerah A, Lamaze C, Bègue B, ''et al.'' |title=AP-2/Eps15 interaction is required for receptor-mediated endocytosis. |journal=J. Cell Biol. |volume=140 |issue= 5 |pages= 1055-62 |year= 1998 |pmid= 9490719 |doi=  }}
|-
*{{cite journal | author=de Beer T, Carter RE, Lobel-Rice KE, ''et al.'' |title=Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain. |journal=Science |volume=281 |issue= 5381 |pages= 1357-60 |year= 1998 |pmid= 9721102 |doi= }}
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
*{{cite journal | author=Chen H, Fre S, Slepnev VI, ''et al.'' |title=Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis. |journal=Nature |volume=394 |issue= 6695 |pages= 793-7 |year= 1998 |pmid= 9723620 |doi= 10.1038/29555 }}
|-
*{{cite journal | author=Lewin DA, Sheff D, Ooi CE, ''et al.'' |title=Cloning, expression, and localization of a novel gamma-adaptin-like molecule. |journal=FEBS Lett. |volume=435 |issue= 2-3 |pages= 263-8 |year= 1998 |pmid= 9762922 |doi= }}
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
*{{cite journal | author=Sengar AS, Wang W, Bishay J, ''et al.'' |title=The EH and SH3 domain Ese proteins regulate endocytosis by linking to dynamin and Eps15. |journal=EMBO J. |volume=18 |issue= 5 |pages= 1159-71 |year= 1999 |pmid= 10064583 |doi= 10.1093/emboj/18.5.1159 }}
|-
*{{cite journal | author=Poupon V, Bègue B, Gagnon J, ''et al.'' |title=Molecular cloning and characterization of MT-ACT48, a novel mitochondrial acyl-CoA thioesterase. |journal=J. Biol. Chem. |volume=274 |issue= 27 |pages= 19188-94 |year= 1999 |pmid= 10383425 |doi= }}
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
*{{cite journal  | author=Nakashima S, Morinaka K, Koyama S, ''et al.'' |title=Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors. |journal=EMBO J. |volume=18 |issue= 13 |pages= 3629-42 |year= 1999 |pmid= 10393179 |doi= 10.1093/emboj/18.13.3629 }}
|-
*{{cite journal | author=Stephens DJ, Banting G |title=Direct interaction of the trans-Golgi network membrane protein, TGN38, with the F-actin binding protein, neurabin. |journal=J. Biol. Chem. |volume=274 |issue= 42 |pages= 30080-6 |year= 1999 |pmid= 10514494 |doi=  }}
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
}}
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Blood plasma|Plasma]] [[immunoglobulin]]s || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#C40000"|Abnormal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Skin Histopathology || bgcolor="#488ED3"|Normal
|-
| Brain histopathology || bgcolor="#488ED3"|Normal
|-
| Eye Histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBER/salmonella-challenge/ |title=''Salmonella'' infection data for Eps15 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBER/citrobacter-challenge/ |title=''Citrobacter'' infection data for Eps15 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of EPS15 function. A conditional [[knockout mouse]] line, called ''Eps15<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Eps15 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362352 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program—a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists—at the [[Wellcome Trust Sanger Institute]].<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–342 | year = 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = June 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = January 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>
 
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism. | journal = Genome Biol | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}</ref> Twenty six tests were carried out on [[mutant]] mice and one significant abnormality was observed: [[homozygous]] mutant animals had a decreased mean corpuscular [[hemoglobin]] concentration.<ref name="mgp_reference" />
 
== Interactions ==
 
EPS15 has been shown to [[Protein-protein interaction|interact]] with:
* [[CRK (gene)|CRK]]<ref name = pmid7797522>{{cite journal | vauthors = Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H | title = The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R | journal = J. Biol. Chem. | volume = 270 | issue = 25 | pages = 15341–7 | date = June 1995 | pmid = 7797522 | doi =  10.1074/jbc.270.25.15341}}</ref>
* [[EPN1]],<ref name = pmid9723620>{{cite journal | vauthors = Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P | title = Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis | journal = Nature | volume = 394 | issue = 6695 | pages = 793–7 | date = August 1998 | pmid = 9723620 | doi = 10.1038/29555 }}</ref>
* [[HGS (gene)|HGS]],<ref name = pmid10809762>{{cite journal | vauthors = Bean AJ, Davanger S, Chou MF, Gerhardt B, Tsujimoto S, Chang Y | title = Hrs-2 regulates receptor-mediated endocytosis via interactions with Eps15 | journal = J. Biol. Chem. | volume = 275 | issue = 20 | pages = 15271–8 | date = May 2000 | pmid = 10809762 | doi = 10.1074/jbc.275.20.15271}}</ref><ref name = pmid12551915>{{cite journal | vauthors = Bache KG, Raiborg C, Mehlum A, Stenmark H | title = STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes | journal = J. Biol. Chem. | volume = 278 | issue = 14 | pages = 12513–21 | date = April 2003 | pmid = 12551915 | doi = 10.1074/jbc.M210843200 }}</ref>
* [[HRB (gene)|HRB]],<ref name = pmid10613896>{{cite journal | vauthors = Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP | title = The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport | journal = J. Cell Biol. | volume = 147 | issue = 7 | pages = 1379–84 | date = December 1999 | pmid = 10613896 | pmc = 2174238 | doi = 10.1083/jcb.147.7.1379}}</ref> and
* [[REPS2]].<ref name = pmid10393179>{{cite journal | vauthors = Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A | title = Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors | journal = EMBO J. | volume = 18 | issue = 13 | pages = 3629–42 | date = July 1999 | pmid = 10393179 | pmc = 1171441 | doi = 10.1093/emboj/18.13.3629 }}</ref>
 
== References ==
{{reflist|35em}}
 
== Further reading ==
{{refbegin|35em}}
* {{cite journal | vauthors = Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H | title = The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R. | journal = J. Biol. Chem. | volume = 270 | issue = 25 | pages = 15341–7 | year = 1995 | pmid = 7797522 | doi = 10.1074/jbc.270.25.15341 }}
* {{cite journal | vauthors = Bernard OA, Mauchauffe M, Mecucci C, Van den Berghe H, Berger R | title = A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL. | journal = Oncogene | volume = 9 | issue = 4 | pages = 1039–45 | year = 1994 | pmid = 8134107 | doi =  }}
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction. | journal = Anal. Biochem. | volume = 236 | issue = 1 | pages = 107–13 | year = 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
* {{cite journal | vauthors = Benmerah A, Bégue B, Dautry-Varsat A, Cerf-Bensussan N | title = The ear of alpha-adaptin interacts with the COOH-terminal domain of the Eps 15 protein. | journal = J. Biol. Chem. | volume = 271 | issue = 20 | pages = 12111–6 | year = 1996 | pmid = 8662627 | doi = 10.1074/jbc.271.20.12111 }}
* {{cite journal | vauthors = Matsuda M, Ota S, Tanimura R, Nakamura H, Matuoka K, Takenawa T, Nagashima K, Kurata T | title = Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins. | journal = J. Biol. Chem. | volume = 271 | issue = 24 | pages = 14468–72 | year = 1996 | pmid = 8662907 | doi = 10.1074/jbc.271.24.14468 }}
* {{cite journal | vauthors = van Delft S, Schumacher C, Hage W, Verkleij AJ, van Bergen en Henegouwen PM | title = Association and colocalization of Eps15 with adaptor protein-2 and clathrin. | journal = J. Cell Biol. | volume = 136 | issue = 4 | pages = 811–21 | year = 1997 | pmid = 9049247 | pmc = 2132490 | doi = 10.1083/jcb.136.4.811 }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing. | journal = Genome Res. | volume = 7 | issue = 4 | pages = 353–8 | year = 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
* {{cite journal | vauthors = Tebar F, Confalonieri S, Carter RE, Di Fiore PP, Sorkin A | title = Eps15 is constitutively oligomerized due to homophilic interaction of its coiled-coil region. | journal = J. Biol. Chem. | volume = 272 | issue = 24 | pages = 15413–8 | year = 1997 | pmid = 9182572 | doi = 10.1074/jbc.272.24.15413 }}
* {{cite journal | vauthors = Salcini AE, Confalonieri S, Doria M, Santolini E, Tassi E, Minenkova O, Cesareni G, Pelicci PG, Di Fiore PP | title = Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. | journal = Genes Dev. | volume = 11 | issue = 17 | pages = 2239–49 | year = 1997 | pmid = 9303539 | pmc = 275390 | doi = 10.1101/gad.11.17.2239 }}
* {{cite journal | vauthors = Cupers P, ter Haar E, Boll W, Kirchhausen T | title = Parallel dimers and anti-parallel tetramers formed by epidermal growth factor receptor pathway substrate clone 15. | journal = J. Biol. Chem. | volume = 272 | issue = 52 | pages = 33430–4 | year = 1998 | pmid = 9407139 | doi = 10.1074/jbc.272.52.33430 }}
* {{cite journal | vauthors = Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P | title = Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. | journal = FEBS Lett. | volume = 419 | issue = 2–3 | pages = 175–80 | year = 1998 | pmid = 9428629 | doi = 10.1016/S0014-5793(97)01451-8 }}
* {{cite journal | vauthors = Benmerah A, Lamaze C, Bègue B, Schmid SL, Dautry-Varsat A, Cerf-Bensussan N | title = AP-2/Eps15 interaction is required for receptor-mediated endocytosis | journal = J. Cell Biol. | volume = 140 | issue = 5 | pages = 1055–62 | year = 1998 | pmid = 9490719 | pmc = 2132690 | doi = 10.1083/jcb.140.5.1055 }}
* {{cite journal | vauthors = de Beer T, Carter RE, Lobel-Rice KE, Sorkin A, Overduin M | title = Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain | journal = Science | volume = 281 | issue = 5381 | pages = 1357–60 | year = 1998 | pmid = 9721102 | doi = 10.1126/science.281.5381.1357 }}
* {{cite journal | vauthors = Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P | title = Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis | journal = Nature | volume = 394 | issue = 6695 | pages = 793–7 | year = 1998 | pmid = 9723620 | doi = 10.1038/29555 }}
* {{cite journal | vauthors = Lewin DA, Sheff D, Ooi CE, Whitney JA, Yamamoto E, Chicione LM, Webster P, Bonifacino JS, Mellman I | title = Cloning, expression, and localization of a novel gamma-adaptin-like molecule | journal = FEBS Lett. | volume = 435 | issue = 2–3 | pages = 263–8 | year = 1998 | pmid = 9762922 | doi = 10.1016/S0014-5793(98)01083-7 }}
* {{cite journal | vauthors = Sengar AS, Wang W, Bishay J, Cohen S, Egan SE | title = The EH and SH3 domain Ese proteins regulate endocytosis by linking to dynamin and Eps15 | journal = EMBO J. | volume = 18 | issue = 5 | pages = 1159–71 | year = 1999 | pmid = 10064583 | pmc = 1171207 | doi = 10.1093/emboj/18.5.1159 }}
* {{cite journal | vauthors = Poupon V, Bègue B, Gagnon J, Dautry-Varsat A, Cerf-Bensussan N, Benmerah A | title = Molecular cloning and characterization of MT-ACT48, a novel mitochondrial acyl-CoA thioesterase | journal = J. Biol. Chem. | volume = 274 | issue = 27 | pages = 19188–94 | year = 1999 | pmid = 10383425 | doi = 10.1074/jbc.274.27.19188 }}
* {{cite journal | vauthors = Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A | title = Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors | journal = EMBO J. | volume = 18 | issue = 13 | pages = 3629–42 | year = 1999 | pmid = 10393179 | pmc = 1171441 | doi = 10.1093/emboj/18.13.3629 }}
* {{cite journal | vauthors = Stephens DJ, Banting G | title = Direct interaction of the trans-Golgi network membrane protein, TGN38, with the F-actin binding protein, neurabin | journal = J. Biol. Chem. | volume = 274 | issue = 42 | pages = 30080–6 | year = 1999 | pmid = 10514494 | doi = 10.1074/jbc.274.42.30080 }}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=2060}}
{{WikiDoc Sources}}
 
[[Category:Genes mutated in mice]]
[[Category:EH-domain-containing proteins]]

Latest revision as of 00:33, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Epidermal growth factor receptor substrate 15 is a protein that in humans is encoded by the EPS15 gene.[1]

Function

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[2]

Model organisms

Model organisms have been used in the study of EPS15 function. A conditional knockout mouse line, called Eps15tm1a(KOMP)Wtsi[7][8] was generated as part of the International Knockout Mouse Consortium program—a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists—at the Wellcome Trust Sanger Institute.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty six tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant animals had a decreased mean corpuscular hemoglobin concentration.[5]

Interactions

EPS15 has been shown to interact with:

References

  1. ↑ Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, Di Fiore PP (Jun 1994). "The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32". Oncogene. 9 (6): 1591–7. PMID 8183552.
  2. ↑ "Entrez Gene: EPS15 epidermal growth factor receptor pathway substrate 15".
  3. ↑ "Salmonella infection data for Eps15". Wellcome Trust Sanger Institute.
  4. ↑ "Citrobacter infection data for Eps15". Wellcome Trust Sanger Institute.
  5. ↑ 5.0 5.1 5.2 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
  6. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ↑ "International Knockout Mouse Consortium".
  8. ↑ "Mouse Genome Informatics".
  9. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  10. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  12. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  13. ↑ Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H (June 1995). "The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R". J. Biol. Chem. 270 (25): 15341–7. doi:10.1074/jbc.270.25.15341. PMID 7797522.
  14. ↑ Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P (August 1998). "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis". Nature. 394 (6695): 793–7. doi:10.1038/29555. PMID 9723620.
  15. ↑ Bean AJ, Davanger S, Chou MF, Gerhardt B, Tsujimoto S, Chang Y (May 2000). "Hrs-2 regulates receptor-mediated endocytosis via interactions with Eps15". J. Biol. Chem. 275 (20): 15271–8. doi:10.1074/jbc.275.20.15271. PMID 10809762.
  16. ↑ Bache KG, Raiborg C, Mehlum A, Stenmark H (April 2003). "STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes". J. Biol. Chem. 278 (14): 12513–21. doi:10.1074/jbc.M210843200. PMID 12551915.
  17. ↑ Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP (December 1999). "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport". J. Cell Biol. 147 (7): 1379–84. doi:10.1083/jcb.147.7.1379. PMC 2174238. PMID 10613896.
  18. ↑ Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (July 1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors". EMBO J. 18 (13): 3629–42. doi:10.1093/emboj/18.13.3629. PMC 1171441. PMID 10393179.

Further reading

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