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词条 EPS15
释义

  1. Function

  2. Model organisms

  3. Interactions

  4. References

  5. Further reading

{{Infobox_gene}}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:

  • CRK[13]
  • EPN1,[14]
  • HGS,[15][16]
  • HRB,[17] and
  • REPS2.[18]

References

1. ^{{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 = }}
2. ^{{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 = }}
3. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBER/salmonella-challenge/ |title=Salmonella infection data for Eps15 |publisher=Wellcome Trust Sanger Institute}}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBER/citrobacter-challenge/ |title=Citrobacter infection data for Eps15 |publisher=Wellcome Trust Sanger Institute}}
5. ^1 2 {{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 }}
6. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
7. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Eps15 |title=International Knockout Mouse Consortium}}
8. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362352 |title=Mouse Genome Informatics}}
9. ^{{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 }}
10. ^{{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 }}
11. ^{{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 }}
12. ^{{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 }}
13. ^{{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}}
14. ^{{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 }}
15. ^{{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}}
16. ^{{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 }}
17. ^{{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}}
18. ^{{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 }}

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 }}
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2 : Genes mutated in mice|EH-domain-containing proteins
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