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{{Infobox_gene}}
{{PBB_Controls
'''Epidermal growth factor receptor kinase substrate 8''' is an [[enzyme]] that in humans is encoded by the ''EPS8'' [[gene]].<ref name="pmid8084614">{{cite journal | vauthors = Wong WT, Carlomagno F, Druck T, Barletta C, Croce CM, Huebner K, Kraus MH, Di Fiore PP | title = Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24 | journal = Oncogene | volume = 9 | issue = 10 | pages = 3057–61 | date = October 1994 | pmid = 8084614 | pmc =  | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2059| accessdate = }}</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_EPS8_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1aoj.
| PDB = {{PDB2|1aoj}}, {{PDB2|1i07}}, {{PDB2|1i0c}}
| Name = Epidermal growth factor receptor pathway substrate 8
| HGNCid = 3420
| Symbol = EPS8
| AltSymbols =;
| OMIM = 600206
| ECnumber = 
| Homologene = 3272
| MGIid = 104684
| GeneAtlas_image1 = PBB_GE_EPS8_202609_at_tn.png
| Function = {{GNF_GO|id=GO:0005070 |text = SH3/SH2 adaptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component =
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007173 |text = epidermal growth factor receptor signaling pathway}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2059
    | Hs_Ensembl = ENSG00000151491
    | Hs_RefseqProtein = NP_004438
    | Hs_RefseqmRNA = NM_004447
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 12
    | Hs_GenLoc_start = 15664343
    | Hs_GenLoc_end = 15833601
    | Hs_Uniprot = Q12929
    | Mm_EntrezGene = 13860
    | Mm_Ensembl = ENSMUSG00000015766
    | Mm_RefseqmRNA = NM_007945
    | Mm_RefseqProtein = NP_031971
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 137441441
    | Mm_GenLoc_end = 137613316
    | Mm_Uniprot = Q3TM41
  }}
}}
'''Epidermal growth factor receptor pathway substrate 8''', also known as '''EPS8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2059| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a member of the EPS8 family. This protein contains one [[PH domain]] and one [[SH3 domain]]. It functions as part of the [[epidermal growth factor receptor|EGFR]] pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated [[actin]] remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.<ref name="entrez">{{cite web | title = Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2059| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
Mutations in EPS8 cause {{SWL|type=mutation_results_in|target=congenital deafness|label=congenital deafness}}.{{cite journal | vauthors = Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C | title = EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness | journal = Orphanet Journal of Rare Diseases | volume = 9 | issue = 1 | pages = 55 | year = 2014 | pmid = 24741995 | pmc = 4022326 | doi = 10.1186/1750-1172-9-55 }}
 
== Interactions ==
 
EPS8 has been shown to [[Protein-protein interaction|interact]] with:
{{div col|colwidth=20em}}
* [[ABI1]],<ref name = pmid14565974/><ref name = pmid9010225>{{cite journal | vauthors = Biesova Z, Piccoli C, Wong WT | title = Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth | journal = Oncogene | volume = 14 | issue = 2 | pages = 233–41 | date = January 1997 | pmid = 9010225 | doi = 10.1038/sj.onc.1200822 }}</ref><ref name = pmid11099046>{{cite journal | vauthors = Lanzetti L, Rybin V, Malabarba MG, Christoforidis S, Scita G, Zerial M, Di Fiore PP | title = The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5 | journal = Nature | volume = 408 | issue = 6810 | pages = 374–7 | date = November 2000 | pmid = 11099046 | doi = 10.1038/35042605 }}</ref>
* [[BAIAP2]],<ref name = pmid16189514>{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}</ref><ref name = pmid15289329>{{cite journal | vauthors = Funato Y, Terabayashi T, Suenaga N, Seiki M, Takenawa T, Miki H | title = IRSp53/Eps8 complex is important for positive regulation of Rac and cancer cell motility/invasiveness | journal = Cancer Res. | volume = 64 | issue = 15 | pages = 5237–44 | date = August 2004 | pmid = 15289329 | doi = 10.1158/0008-5472.CAN-04-0327 }}</ref>
* [[DVL1]],<ref name = pmid10581192>{{cite journal | vauthors = Inobe M, ((Katsube Ki)), Miyagoe Y, ((Nabeshima Yi)), Takeda S | title = Identification of EPS8 as a Dvl1-associated molecule | journal = Biochem. Biophys. Res. Commun. | volume = 266 | issue = 1 | pages = 216–21 | date = December 1999 | pmid = 10581192 | doi = 10.1006/bbrc.1999.1782 }}</ref>
* [[SHB (gene)|SHB]],<ref name = pmid7537362>{{cite journal | vauthors = Karlsson T, Songyang Z, Landgren E, Lavergne C, Di Fiore PP, Anafi M, Pawson T, Cantley LC, Claesson-Welsh L, Welsh M | title = Molecular interactions of the Src homology 2 domain protein Shb with phosphotyrosine residues, tyrosine kinase receptors and Src homology 3 domain proteins | journal = Oncogene | volume = 10 | issue = 8 | pages = 1475–83 | date = April 1995 | pmid = 7537362 | doi =  }}</ref>
* [[SHC1]]<ref name = pmid7791787>{{cite journal | vauthors = Matoskova B, Wong WT, Salcini AE, Pelicci PG, Di Fiore PP | title = Constitutive phosphorylation of eps8 in tumor cell lines: relevance to malignant transformation | journal = Mol. Cell. Biol. | volume = 15 | issue = 7 | pages = 3805–12 | date = July 1995 | pmid = 7791787 | pmc = 230619 | doi =  }}</ref>
* [[SOS1]],<ref name = pmid14565974>{{cite journal | vauthors = Offenhäuser N, Borgonovo A, Disanza A, Romano P, Ponzanelli I, Iannolo G, Di Fiore PP, Scita G | title = The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway | journal = Mol. Biol. Cell | volume = 15 | issue = 1 | pages = 91–8 | date = January 2004 | pmid = 14565974 | pmc = 307530 | doi = 10.1091/mbc.E03-06-0427 }}</ref><ref name = pmid10499589>{{cite journal | vauthors = Scita G, Nordstrom J, Carbone R, Tenca P, Giardina G, Gutkind S, Bjarnegård M, Betsholtz C, Di Fiore PP | title = EPS8 and E3B1 transduce signals from Ras to Rac | journal = Nature | volume = 401 | issue = 6750 | pages = 290–3 | date = September 1999 | pmid = 10499589 | doi = 10.1038/45822 }}</ref>  and
* [[Src (gene)|Src]].<ref name = pmid10395945>{{cite journal | vauthors = Maa MC, Lai JR, Lin RW, Leu TH | title = Enhancement of tyrosyl phosphorylation and protein expression of eps8 by v-Src | journal = Biochim. Biophys. Acta | volume = 1450 | issue = 3 | pages = 341–51 | date = July 1999 | pmid = 10395945 | doi =  10.1016/s0167-4889(99)00069-5}}</ref>
{{Div col end}}
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Di Fiore PP, Scita G | title = Eps8 in the midst of GTPases | journal = Int. J. Biochem. Cell Biol. | volume = 34 | issue = 10 | pages = 1178–83 | year = 2002 | pmid = 12127568 | doi = 10.1016/S1357-2725(02)00064-X }}
| citations =
* {{cite journal | vauthors = Cardwell C | title = Student or worker? International Meeting of Student Nurses (European Group) | journal = Nursing mirror and midwives journal | volume = 143 | issue = 19 | pages = 38 | year = 1977 | pmid = 1049958 | doi =  }}
*{{cite journal | author=Di Fiore PP, Scita G |title=Eps8 in the midst of GTPases. |journal=Int. J. Biochem. Cell Biol. |volume=34 |issue= 10 |pages= 1178-83 |year= 2002 |pmid= 12127568 |doi= }}
* {{cite journal | vauthors = Castagnino P, Biesova Z, Wong WT, Fazioli F, Gill GN, Di Fiore PP | title = Direct binding of eps8 to the juxtamembrane domain of EGFR is phosphotyrosine- and SH2-independent | journal = Oncogene | volume = 10 | issue = 4 | pages = 723–9 | year = 1995 | pmid = 7532293 | doi =  }}
*{{cite journal | author=Cardwell C |title=Student or worker? International Meeting of Student Nurses (European Group). |journal=Nursing mirror and midwives journal |volume=143 |issue= 19 |pages= 38 |year= 1977 |pmid= 1049958 |doi=  }}
* {{cite journal | vauthors = Karlsson T, Songyang Z, Landgren E, Lavergne C, Di Fiore PP, Anafi M, Pawson T, Cantley LC, Claesson-Welsh L, Welsh M | title = Molecular interactions of the Src homology 2 domain protein Shb with phosphotyrosine residues, tyrosine kinase receptors and Src homology 3 domain proteins | journal = Oncogene | volume = 10 | issue = 8 | pages = 1475–83 | year = 1995 | pmid = 7537362 | doi =  }}
*{{cite journal | author=Castagnino P, Biesova Z, Wong WT, ''et al.'' |title=Direct binding of eps8 to the juxtamembrane domain of EGFR is phosphotyrosine- and SH2-independent. |journal=Oncogene |volume=10 |issue= 4 |pages= 723-9 |year= 1995 |pmid= 7532293 |doi=  }}
* {{cite journal | vauthors = Avantaggiato V, Torino A, Wong WT, Di Fiore PP, Simeone A | title = Expression of the receptor tyrosine kinase substrate genes eps8 and eps15 during mouse development | journal = Oncogene | volume = 11 | issue = 6 | pages = 1191–8 | year = 1995 | pmid = 7566980 | doi =  }}
*{{cite journal | author=Karlsson T, Songyang Z, Landgren E, ''et al.'' |title=Molecular interactions of the Src homology 2 domain protein Shb with phosphotyrosine residues, tyrosine kinase receptors and Src homology 3 domain proteins. |journal=Oncogene |volume=10 |issue= 8 |pages= 1475-83 |year= 1995 |pmid= 7537362 |doi=  }}
* {{cite journal | vauthors = Matoskova B, Wong WT, Salcini AE, Pelicci PG, Di Fiore PP | title = Constitutive phosphorylation of eps8 in tumor cell lines: relevance to malignant transformation | journal = Mol. Cell. Biol. | volume = 15 | issue = 7 | pages = 3805–12 | year = 1995 | pmid = 7791787 | pmc = 230619 | doi =  }}
*{{cite journal | author=Avantaggiato V, Torino A, Wong WT, ''et al.'' |title=Expression of the receptor tyrosine kinase substrate genes eps8 and eps15 during mouse development. |journal=Oncogene |volume=11 |issue= 6 |pages= 1191-8 |year= 1995 |pmid= 7566980 |doi=  }}
* {{cite journal | vauthors = Fazioli F, Minichiello L, Matoska V, Castagnino P, Miki T, Wong WT, Di Fiore PP | title = Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals | journal = EMBO J. | volume = 12 | issue = 10 | pages = 3799–808 | year = 1993 | pmid = 8404850 | pmc = 413663 | doi =  }}
*{{cite journal | author=Matoskova B, Wong WT, Salcini AE, ''et al.'' |title=Constitutive phosphorylation of eps8 in tumor cell lines: relevance to malignant transformation. |journal=Mol. Cell. Biol. |volume=15 |issue= 7 |pages= 3805-12 |year= 1995 |pmid= 7791787 |doi=  }}
* {{cite journal | vauthors = Matòsková B, Wong WT, Seki N, Nagase T, Nomura N, Robbins KC, Di Fiore PP | title = RN-tre identifies a family of tre-related proteins displaying a novel potential protein binding domain | journal = Oncogene | volume = 12 | issue = 12 | pages = 2563–71 | year = 1996 | pmid = 8700515 | doi =  }}
*{{cite journal  | author=Wong WT, Carlomagno F, Druck T, ''et al.'' |title=Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24. |journal=Oncogene |volume=9 |issue= 10 |pages= 3057-61 |year= 1994 |pmid= 8084614 |doi=  }}
* {{cite journal | vauthors = Matòsková B, Wong WT, Nomura N, Robbins KC, Di Fiore PP | title = RN-tre specifically binds to the SH3 domain of eps8 with high affinity and confers growth advantage to NIH3T3 upon carboxy-terminal truncation | journal = Oncogene | volume = 12 | issue = 12 | pages = 2679–88 | year = 1996 | pmid = 8700527 | doi =  }}
*{{cite journal | author=Fazioli F, Minichiello L, Matoska V, ''et al.'' |title=Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals. |journal=EMBO J. |volume=12 |issue= 10 |pages= 3799-808 |year= 1993 |pmid= 8404850 |doi=  }}
* {{cite journal | vauthors = Biesova Z, Piccoli C, Wong WT | title = Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth | journal = Oncogene | volume = 14 | issue = 2 | pages = 233–41 | year = 1997 | pmid = 9010225 | doi = 10.1038/sj.onc.1200822 }}
*{{cite journal | author=Matòsková B, Wong WT, Seki N, ''et al.'' |title=RN-tre identifies a family of tre-related proteins displaying a novel potential protein binding domain. |journal=Oncogene |volume=12 |issue= 12 |pages= 2563-71 |year= 1996 |pmid= 8700515 |doi=  }}
* {{cite journal | vauthors = Kishan KV, Scita G, Wong WT, Di Fiore PP, Newcomer ME | title = The SH3 domain of Eps8 exists as a novel intertwined dimer | journal = Nat. Struct. Biol. | volume = 4 | issue = 9 | pages = 739–43 | year = 1997 | pmid = 9303002 | doi = 10.1038/nsb0997-739 }}
*{{cite journal | author=Matòsková B, Wong WT, Nomura N, ''et al.'' |title=RN-tre specifically binds to the SH3 domain of eps8 with high affinity and confers growth advantage to NIH3T3 upon carboxy-terminal truncation. |journal=Oncogene |volume=12 |issue= 12 |pages= 2679-88 |year= 1996 |pmid= 8700527 |doi=  }}
* {{cite journal | vauthors = Maa MC, Lai JR, Lin RW, Leu TH | title = Enhancement of tyrosyl phosphorylation and protein expression of eps8 by v-Src | journal = Biochim. Biophys. Acta | volume = 1450 | issue = 3 | pages = 341–51 | year = 1999 | pmid = 10395945 | doi = 10.1016/S0167-4889(99)00069-5 }}
*{{cite journal | author=Biesova Z, Piccoli C, Wong WT |title=Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth. |journal=Oncogene |volume=14 |issue= 2 |pages= 233-41 |year= 1997 |pmid= 9010225 |doi= 10.1038/sj.onc.1200822 }}
* {{cite journal | vauthors = Scita G, Nordstrom J, Carbone R, Tenca P, Giardina G, Gutkind S, Bjarnegård M, Betsholtz C, Di Fiore PP | title = EPS8 and E3B1 transduce signals from Ras to Rac | journal = Nature | volume = 401 | issue = 6750 | pages = 290–3 | year = 1999 | pmid = 10499589 | doi = 10.1038/45822 }}
*{{cite journal | author=Kishan KV, Scita G, Wong WT, ''et al.'' |title=The SH3 domain of Eps8 exists as a novel intertwined dimer. |journal=Nat. Struct. Biol. |volume=4 |issue= 9 |pages= 739-43 |year= 1997 |pmid= 9303002 |doi= }}
* {{cite journal | vauthors = Lanzetti L, Rybin V, Malabarba MG, Christoforidis S, Scita G, Zerial M, Di Fiore PP | title = The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5 | journal = Nature | volume = 408 | issue = 6810 | pages = 374–7 | year = 2000 | pmid = 11099046 | doi = 10.1038/35042605 }}
*{{cite journal | author=Maa MC, Lai JR, Lin RW, Leu TH |title=Enhancement of tyrosyl phosphorylation and protein expression of eps8 by v-Src. |journal=Biochim. Biophys. Acta |volume=1450 |issue= 3 |pages= 341-51 |year= 1999 |pmid= 10395945 |doi= }}
* {{cite journal | vauthors = Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S | title = Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6 | journal = J. Med. Genet. | volume = 37 | issue = 11 | pages = 884–6 | year = 2000 | pmid = 11185075 | pmc = 1734479 | doi = 10.1136/jmg.37.11.884 }}
*{{cite journal | author=Scita G, Nordstrom J, Carbone R, ''et al.'' |title=EPS8 and E3B1 transduce signals from Ras to Rac. |journal=Nature |volume=401 |issue= 6750 |pages= 290-3 |year= 1999 |pmid= 10499589 |doi= 10.1038/45822 }}
* {{cite journal | vauthors = Scita G, Tenca P, Areces LB, Tocchetti A, Frittoli E, Giardina G, Ponzanelli I, Sini P, Innocenti M, Di Fiore PP | title = An effector region in Eps8 is responsible for the activation of the Rac-specific GEF activity of Sos-1 and for the proper localization of the Rac-based actin–polymerizing machine | journal = J. Cell Biol. | volume = 154 | issue = 5 | pages = 1031–44 | year = 2001 | pmid = 11524436 | pmc = 2196181 | doi = 10.1083/jcb.200103146 }}
*{{cite journal | author=Inobe M, Katsube K, Miyagoe Y, ''et al.'' |title=Identification of EPS8 as a Dvl1-associated molecule. |journal=Biochem. Biophys. Res. Commun. |volume=266 |issue= 1 |pages= 216-21 |year= 2000 |pmid= 10581192 |doi= 10.1006/bbrc.1999.1782 }}
*{{cite journal  | author=Lanzetti L, Rybin V, Malabarba MG, ''et al.'' |title=The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5. |journal=Nature |volume=408 |issue= 6810 |pages= 374-7 |year= 2000 |pmid= 11099046 |doi= 10.1038/35042605 }}
*{{cite journal | author=Ion A, Crosby AH, Kremer H, ''et al.'' |title=Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. |journal=J. Med. Genet. |volume=37 |issue= 11 |pages= 884-6 |year= 2000 |pmid= 11185075 |doi= }}
*{{cite journal | author=Scita G, Tenca P, Areces LB, ''et al.'' |title=An effector region in Eps8 is responsible for the activation of the Rac-specific GEF activity of Sos-1 and for the proper localization of the Rac-based actin-polymerizing machine. |journal=J. Cell Biol. |volume=154 |issue= 5 |pages= 1031-44 |year= 2001 |pmid= 11524436 |doi= 10.1083/jcb.200103146 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=2059}}
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Revision as of 01:59, 27 October 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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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.[1][2]

Function

This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[2]

Clinical significance

Mutations in EPS8 cause congenital deafness .Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C (2014). "EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness". Orphanet Journal of Rare Diseases. 9 (1): 55. doi:10.1186/1750-1172-9-55. PMC 4022326. PMID 24741995.

Interactions

EPS8 has been shown to interact with:

References

  1. ↑ Wong WT, Carlomagno F, Druck T, Barletta C, Croce CM, Huebner K, Kraus MH, Di Fiore PP (October 1994). "Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24". Oncogene. 9 (10): 3057–61. PMID 8084614.
  2. ↑ 2.0 2.1 "Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8".
  3. ↑ 3.0 3.1 Offenhäuser N, Borgonovo A, Disanza A, Romano P, Ponzanelli I, Iannolo G, Di Fiore PP, Scita G (January 2004). "The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway". Mol. Biol. Cell. 15 (1): 91–8. doi:10.1091/mbc.E03-06-0427. PMC 307530. PMID 14565974.
  4. ↑ Biesova Z, Piccoli C, Wong WT (January 1997). "Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth". Oncogene. 14 (2): 233–41. doi:10.1038/sj.onc.1200822. PMID 9010225.
  5. ↑ Lanzetti L, Rybin V, Malabarba MG, Christoforidis S, Scita G, Zerial M, Di Fiore PP (November 2000). "The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5". Nature. 408 (6810): 374–7. doi:10.1038/35042605. PMID 11099046.
  6. ↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  7. ↑ Funato Y, Terabayashi T, Suenaga N, Seiki M, Takenawa T, Miki H (August 2004). "IRSp53/Eps8 complex is important for positive regulation of Rac and cancer cell motility/invasiveness". Cancer Res. 64 (15): 5237–44. doi:10.1158/0008-5472.CAN-04-0327. PMID 15289329.
  8. ↑ Inobe M, Katsube Ki, Miyagoe Y, Nabeshima Yi, Takeda S (December 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. 266 (1): 216–21. doi:10.1006/bbrc.1999.1782. PMID 10581192.
  9. ↑ Karlsson T, Songyang Z, Landgren E, Lavergne C, Di Fiore PP, Anafi M, Pawson T, Cantley LC, Claesson-Welsh L, Welsh M (April 1995). "Molecular interactions of the Src homology 2 domain protein Shb with phosphotyrosine residues, tyrosine kinase receptors and Src homology 3 domain proteins". Oncogene. 10 (8): 1475–83. PMID 7537362.
  10. ↑ Matoskova B, Wong WT, Salcini AE, Pelicci PG, Di Fiore PP (July 1995). "Constitutive phosphorylation of eps8 in tumor cell lines: relevance to malignant transformation". Mol. Cell. Biol. 15 (7): 3805–12. PMC 230619. PMID 7791787.
  11. ↑ Scita G, Nordstrom J, Carbone R, Tenca P, Giardina G, Gutkind S, Bjarnegård M, Betsholtz C, Di Fiore PP (September 1999). "EPS8 and E3B1 transduce signals from Ras to Rac". Nature. 401 (6750): 290–3. doi:10.1038/45822. PMID 10499589.
  12. ↑ Maa MC, Lai JR, Lin RW, Leu TH (July 1999). "Enhancement of tyrosyl phosphorylation and protein expression of eps8 by v-Src". Biochim. Biophys. Acta. 1450 (3): 341–51. doi:10.1016/s0167-4889(99)00069-5. PMID 10395945.

Further reading

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