Homo sapiens Protein: EPS8 | |||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-597606.3 | ||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||
Gene Symbol | EPS8 | ||||||||||||||||||||||||||||||
Protein Name | epidermal growth factor receptor pathway substrate 8 | ||||||||||||||||||||||||||||||
Synonyms | DFNB102; | ||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000442388 | ||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-21563 (EPS8) | ||||||||||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||||||||||
Function | Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac- specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2- dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with DFNB31 and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes. {ECO:0000269PubMed:15558031, ECO:0000269PubMed:17115031}. | ||||||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cell cortex {ECO:0000250}. Cell projection, ruffle membrane {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Localizes to the midzone of dividing cells. {ECO:0000250}. | ||||||||||||||||||||||||||||||
Disease Associations | Note=Defects in EPS8 are associated with some cancers, such as pancreatic, oral squamous cell carcinomas or pituitary cancers. Contributes to cell transformation in response to growth factor treatment and is overexpressed in a number of tumors, indicating that EPS8 levels must be tightly regulated. | ||||||||||||||||||||||||||||||
Tissue Specificity | Expressed in all tissues analyzed, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in all epithelial and fibroblastic lines examined and in some, but not all, hematopoietic cells. | ||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 73 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||
InterPro |
IPR001452
SH3 domain IPR006020 PTB/PI domain IPR011511 Variant SH3 domain IPR013625 Tensin phosphotyrosine-binding domain IPR013761 Sterile alpha motif/pointed domain |
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PFAM |
PF00018
PF14604 PF00640 PF14719 PF07653 PF08416 |
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PRINTS |
PR00452
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PIRSF | |||||||||||||||||||||||||||||||
SMART |
SM00326
SM00462 |
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TIGRFAMs | |||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||
SwissProt | Q12929 | ||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q12929 | ||||||||||||||||||||||||||||||
TrEMBL | F5H3Q6 | ||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||
Entrez Gene | 2059 | ||||||||||||||||||||||||||||||
UniGene | Hs.609259 | ||||||||||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||||||||||
HUGO | HGNC:3420 | ||||||||||||||||||||||||||||||
OMIM | 600206 | ||||||||||||||||||||||||||||||
CCDS | CCDS31753 | ||||||||||||||||||||||||||||||
HPRD | 02563 | ||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||
EMBL | AC022073 AC073651 AC092753 AK291777 AK292931 AK301834 AK316134 AK316239 BC030010 CH471094 U12535 | ||||||||||||||||||||||||||||||
GenPept | AAA62280 AAH30010 BAF84466 BAF85620 BAG63278 BAH14505 BAH14610 EAW96354 EAW96355 | ||||||||||||||||||||||||||||||