EPS8L3 Gene
EPS8 Like 3: A regulator of actin dynamics and cell signaling
Gene Information Card
| Symbol | EPS8L3 |
|---|---|
| Full Name | EPS8 Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 79574 ncbi.nlm.nih.gov/gene/79574 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q8TE68 |
| OMIM ID | 614665 |
| HGNC ID | 21297 |
| Aliases | EPS8R3, FLJ11127, MGC138207 |
Description
EPS8L3 (EPS8 Like 3) is a protein-coding gene that belongs to the EPS8 family of signaling adaptors. The encoded protein contains an N-terminal phosphotyrosine-binding (PTB) domain, a central SH3 domain, and a C-terminal sterile alpha motif (SAM) domain. EPS8L3 is involved in the regulation of actin cytoskeleton dynamics, cell migration, and receptor tyrosine kinase signaling. It can interact with EPS8 and other family members to modulate actin filament capping and bundling. EPS8L3 is expressed in various tissues and has been implicated in cancer progression and other cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect actin dynamics and cell migration, promoting invasion and metastasis. | NCBI Gene, COSMIC |
| Colorectal cancer | Upregulation of EPS8L3 has been observed in colorectal tumors, potentially contributing to tumor progression. | COSMIC, PubMed |
| Breast cancer | Differential expression of EPS8L3 may influence cell motility and invasion in breast cancer cell lines. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 8.1 | Medium |
| Liver | 3.4 | Low |
| Kidney | 6.7 | Medium |
| Testis | 12.3 | High |
| Colon | 7.5 | Medium |
| Breast | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney cells |
| HeLa | 8.2 | Cervical cancer cells |
| MCF7 | 6.1 | Breast cancer cells |
| HCT116 | 9.8 | Colorectal cancer cells |
| A549 | 7.3 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown functional impact; rare variant |
| c.1456C>T (p.Arg486*) | Nonsense | <0.01% | Predicted loss of function; truncation |
| c.789_790insA | Frameshift | <0.01% | Predicted loss of function; frameshift |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function by truncating the protein or disrupting its domains.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EPS8L3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EPS8L3.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell migration |
| • signal transduction | • protein binding |
| • actin filament capping |
Pathways
• EPS8 signaling pathway
• Actin cytoskeleton regulation
• EGFR signaling pathway
Protein Summary
The EPS8L3 protein is a 607-amino acid adaptor molecule that localizes to the cytoplasm and cell periphery. It contains a PTB domain, an SH3 domain, and a SAM domain, enabling interactions with multiple signaling partners. EPS8L3 modulates actin dynamics by capping and bundling actin filaments, thereby influencing cell shape, adhesion, and migration. It is expressed in a variety of tissues and is upregulated in some cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPS8L3 Knockout HEK293 Cell Line | EDJ-KQ13310 | Human | 79574 | Details Get a Quote |
| EPS8L3 Knockout A-549 Cell Line | EDJ-KQ42767 | Human | 79574 | Details Get a Quote |
| EPS8L3 Knockout HeLa Cell Line | EDJ-KQ57182 | Human | 79574 | Details Get a Quote |
| EPS8L3 Knockout HCT 116 Cell Line | EDJ-KQ74114 | Human | 79574 | Details Get a Quote |
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