EPS8L1
EPS8-like 1 gene: a regulator of actin dynamics and cell signaling
Gene Information Card
| Symbol | EPS8L1 |
|---|---|
| Full Name | EPS8-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 54869 ncbi.nlm.nih.gov/gene/54869 |
| Ensembl ID | ENSG00000131037 |
| UniProt ID | Q8TE68 |
| OMIM ID | 614942 |
| HGNC ID | 24965 |
| Aliases | EPS8R1, DKFZp686B20107 |
Description
EPS8L1 (EPS8-like 1) is a protein-coding gene that encodes a member of the EPS8 family of actin-regulatory proteins. The protein contains an N-terminal PTB domain, a central SH3 domain, and a C-terminal effector region that binds actin and modulates actin filament dynamics. EPS8L1 is involved in cell migration, adhesion, and receptor signaling, particularly through the regulation of Rac and Rho GTPases. It is widely expressed in human tissues and has been implicated in cancer progression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression promotes cell migration and invasion via actin remodeling | COSMIC, NCBI Gene |
| Breast cancer | Altered expression linked to poor prognosis and metastasis | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | Upregulation associated with tumor growth and EMT | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Thyroid | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| MCF7 | 11.2 | Breast cancer cells |
| HepG2 | 7.5 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.1567G>A (p.Gly523Arg) | Missense | 0.01% (gnomAD) | Potential loss of actin-binding |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the C-terminal actin-binding domain are predicted to impair actin remodeling.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance protein stability or activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome R-HSA-194840)
• Signaling by Rho family GTPases (Reactome R-HSA-194315)
• Regulation of actin dynamics for phagocytic cup formation (Reactome R-HSA-2029485)
Protein Summary
EPS8L1 is a 715-amino-acid protein that localizes to the plasma membrane and actin cytoskeleton. It contains a PTB domain (residues 1-150), an SH3 domain (residues 250-310), and a C-terminal actin-binding region (residues 600-715). The protein interacts with EPS8, SOS1, and actin, modulating Rac1 activation and actin polymerization. It is involved in cell motility, endocytosis, and receptor tyrosine kinase signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPS8L1 Knockout HEK293 Cell Line | EDJ-KQ13307 | Human | 54869 | Details Get a Quote |
| EPS8L1 Knockout HCT 116 Cell Line | EDJ-KQ41528 | Human | 54869 | Details Get a Quote |
| EPS8L1 Knockout A-549 Cell Line | EDJ-KQ42762 | Human | 54869 | Details Get a Quote |
| EPS8L1 Knockout HeLa Cell Line | EDJ-KQ42763 | Human | 54869 | Details Get a Quote |
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