| Gene Symbol | EPS8 |
|---|---|
| Entrez Gene | 2059 |
| Alt Symbol | DFNB102 |
| Species | Human |
| Gene Type | protein-coding |
| Description | epidermal growth factor receptor pathway substrate 8 |
| Other Description | epidermal growth factor receptor kinase substrate 8 |
| Swissprots | A6NMC3 A8KA66 Q12929 Q8N6J0 A8K6W2 B4DX66 |
| Accessions | EAW96354 EAW96355 Q12929 AI219284 AI377466 AK291777 BAF84466 AK292931 BAF85620 AK301834 BAG63278 AK304860 BAG65598 AK316134 BAH14505 AK316239 BAH14610 BC005836 BC030010 AAH30010 BI667617 U12535 AAA62280 XM_005253339 XP_005253396 XM_005253340 XP_005253397 XM_006719057 XP_006719120 XM_011520605 XP_011518907 XM_011520606 XP_011518908 NM_004447 NP_004438 |
| 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 fil |
| Subcellular Location | Cytoplasm, cell cortex {ECO:0000250}. Cell projection, ruffle membrane {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, stereocilium {ECO:0000250, ECO:0000250|UniProtKB:Q08509}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells (By similarity). Localizes to the midzone of dividing cells. {ECO:0000250, ECO:0000250|UniProtKB:Q08509}. |
| 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. |