EPS8

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Epidermal growth factor receptor pathway substrate 8
Protein EPS8 PDB 1aoj.png
PDB rendering based on 1aoj.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol EPS8
External IDs OMIM600206 MGI104684 HomoloGene3272 GeneCards: EPS8 Gene
RNA expression pattern
PBB GE EPS8 202609 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2059 13860
Ensembl ENSG00000151491 ENSMUSG00000015766
UniProt Q12929 Q08509
RefSeq (mRNA) NM_004447 NM_001271587
RefSeq (protein) NP_004438 NP_001258516
Location (UCSC) Chr 12:
15.77 – 16.04 Mb
Chr 6:
137.48 – 137.65 Mb
PubMed search [1] [2]

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

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]

Mutations in EPS8 cause congenital deafness .Behlouli, A; Bonnet, C; Abdi, S; Bouaita, A; Lelli, A; Hardelin, J. P.; 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.  edit

Interactions[edit]

EPS8 has been shown to interact with BAIAP2,[3][4] SHB,[5] Src,[6] SOS1,[7][8] DVL1,[9] SHC1[10] and ABI1.[7][11][12]

References[edit]

  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. ^ a b "Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8". 
  3. ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  4. ^ Funato, Yosuke; Terabayashi Takeshi; Suenaga Naoko; Seiki Motoharu; Takenawa Tadaomi; Miki Hiroaki (August 2004). "IRSp53/Eps8 complex is important for positive regulation of Rac and cancer cell motility/invasiveness". Cancer Res. (United States) 64 (15): 5237–44. doi:10.1158/0008-5472.CAN-04-0327. ISSN 0008-5472. PMID 15289329. 
  5. ^ Karlsson, T; Songyang Z, Landgren E, Lavergne C, Di Fiore P P, Anafi M, Pawson T, Cantley L C, 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 (ENGLAND) 10 (8): 1475–83. ISSN 0950-9232. PMID 7537362. 
  6. ^ Maa, M C; Lai J R; Lin R W; Leu T H (July 1999). "Enhancement of tyrosyl phosphorylation and protein expression of eps8 by v-Src". Biochim. Biophys. Acta (NETHERLANDS) 1450 (3): 341–51. doi:10.1016/S0167-4889(99)00069-5. ISSN 0006-3002. PMID 10395945. 
  7. ^ a b Offenhäuser, Nina; Borgonovo Alessandro; Disanza Andrea; Romano Pascale; Ponzanelli Isabella; Iannolo Gioacchin; Di Fiore Pier Paolo; Scita Giorgio (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 (United States) 15 (1): 91–8. doi:10.1091/mbc.E03-06-0427. ISSN 1059-1524. PMC 307530. PMID 14565974. 
  8. ^ Scita, G; Nordstrom J; Carbone R; Tenca P; Giardina G; Gutkind S; Bjarnegård M; Betsholtz C; Di Fiore P P (September 1999). "EPS8 and E3B1 transduce signals from Ras to Rac". Nature (ENGLAND) 401 (6750): 290–3. doi:10.1038/45822. ISSN 0028-0836. PMID 10499589. 
  9. ^ Inobe, M; Katsube K i; Miyagoe Y; Nabeshima Y i; Takeda S (December 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. (UNITED STATES) 266 (1): 216–21. doi:10.1006/bbrc.1999.1782. ISSN 0006-291X. PMID 10581192. 
  10. ^ Matoskova, B; Wong W T; Salcini A E; Pelicci P G; Di Fiore P P (July 1995). "Constitutive phosphorylation of eps8 in tumor cell lines: relevance to malignant transformation". Mol. Cell. Biol. (UNITED STATES) 15 (7): 3805–12. ISSN 0270-7306. PMC 230619. PMID 7791787. 
  11. ^ Biesova, Z; Piccoli C; Wong W T (January 1997). "Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth". Oncogene (ENGLAND) 14 (2): 233–41. doi:10.1038/sj.onc.1200822. ISSN 0950-9232. PMID 9010225. 
  12. ^ Lanzetti, L; Rybin V; Malabarba M G; Christoforidis S; Scita G; Zerial M; Di Fiore P P (November 2000). "The Eps8 protein coordinates EGF receptor signalling through Rac and trafficking through Rab5". Nature (ENGLAND) 408 (6810): 374–7. doi:10.1038/35042605. ISSN 0028-0836. PMID 11099046. 

Further reading[edit]