EPS8L1

EPS8L1 (EPS8-Like 1) is a protein-coding gene in humans. It is a member of the EPS8 protein family, which are known for their roles in signal transduction and regulation of the actin cytoskeleton. Specifically, EPS8L1 is involved in regulating cell morphology, cell migration, and receptor tyrosine kinase (RTK) signaling.

Gene and Protein Characteristics:

The EPS8L1 gene is located on chromosome 11q13.2. The protein encoded by this gene shares sequence similarity with EPS8 (epidermal growth factor receptor pathway substrate 8), a well-characterized adaptor protein involved in RTK signaling. The EPS8 protein family members contain an N-terminal phosphotyrosine-binding (PTB) domain, a central proline-rich region, and a C-terminal SH3 (Src Homology 3) domain-binding region. These domains mediate protein-protein interactions, allowing EPS8L1 to interact with various signaling molecules and cytoskeletal proteins.

Function and Role:

EPS8L1 functions as a scaffolding protein, bringing together different proteins to regulate cellular processes. Its interaction with RTKs, such as EGFR (epidermal growth factor receptor), allows it to modulate downstream signaling pathways, including the Ras/MAPK pathway. Through interactions with proteins involved in actin polymerization, EPS8L1 influences cell shape and motility. The protein is thought to play a role in processes such as wound healing and cancer metastasis.

Clinical Significance:

While the specific role of EPS8L1 in human diseases is still being investigated, dysregulation of its expression and/or function has been implicated in certain cancers. Further research is needed to fully elucidate the clinical significance of EPS8L1 and its potential as a therapeutic target.

References:

• (Specific scientific publications related to EPS8L1 would be listed here in a real encyclopedia entry.)