EPS8

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EPS8
Protein EPS8 PDB 1aoj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases EPS8, DFNB102, epidermal growth factor receptor pathway substrate 8
External IDs MGI: 104684 HomoloGene: 3272 GeneCards: EPS8
RNA expression pattern
PBB GE EPS8 202609 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004447

NM_001271587
NM_001271588
NM_001271589
NM_001271595
NM_007945

RefSeq (protein)

NP_004438

Location (UCSC) Chr 12: 15.62 – 15.88 Mb Chr 6: 137.48 – 137.65 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.[3][4]

Function[edit]

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.[4]

Clinical significance[edit]

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 4022326Freely accessible. PMID 24741995. 

Interactions[edit]

EPS8 has been shown to interact with:

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: EPS8 epidermal growth factor receptor pathway substrate 8". 
  5. ^ a b 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 307530Freely accessible. PMID 14565974. 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ 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. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ 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. 
  12. ^ 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 230619Freely accessible. PMID 7791787. 
  13. ^ 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. 
  14. ^ 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[edit]