EPS15L1 Gene
Epidermal Growth Factor Receptor Pathway Substrate 15 Like 1
Gene Information Card
| Symbol | EPS15L1 |
|---|---|
| Full Name | Epidermal Growth Factor Receptor Pathway Substrate 15 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 58513 ncbi.nlm.nih.gov/gene/58513 |
| Ensembl ID | ENSG00000130176 |
| UniProt ID | Q9UBC2 |
| OMIM ID | 616826 |
| HGNC ID | 24815 |
| Aliases | EPS15R, EPS15-related protein |
Description
EPS15L1 encodes a protein that is a member of the EPS15 family, involved in clathrin-mediated endocytosis and intracellular trafficking. It functions as a substrate for the epidermal growth factor receptor (EGFR) and plays a role in receptor internalization and signaling. The protein contains EH (Eps15 homology) domains and coiled-coil regions, mediating interactions with other endocytic proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect EGFR trafficking and signaling, contributing to tumorigenesis. | COSMIC, ClinVar |
| Neurodegenerative disorders | Potential involvement in synaptic vesicle recycling and endocytosis; mutations may disrupt neuronal function. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| A549 | 9.8 | Lung cancer cells |
| SH-SY5Y | 13.2 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Unknown functional effect |
| c.567_569del (p.Lys189del) | Deletion | 0.005% | Potential loss of function |
| c.2101G>A (p.Gly701Ser) | Missense | 0.02% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations may impair endocytic function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
Not reported for EPS15L1.
View complete mutation data：
Gene Ontology (GO)
| • clathrin-dependent endocytosis | • intracellular protein transport |
| • protein binding | • EH domain binding |
| • membrane |
Pathways
• EGFR signaling pathway
• Clathrin-mediated endocytosis
• Endocytosis
Protein Summary
EPS15L1 is a 907-amino acid protein with three N-terminal EH domains, a coiled-coil region, and a C-terminal domain. It localizes to clathrin-coated pits and vesicles, interacting with AP-2, clathrin, and other endocytic adaptors. The protein is ubiquitously expressed with highest levels in brain and testis. It is involved in receptor internalization and may play a role in synaptic vesicle recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPS15L1 Knockout HEK293 Cell Line | EDJ-KQ13311 | Human | 58513 | Details Get a Quote |
| EPS15L1 Knockout HCT 116 Cell Line | EDJ-KQ41534 | Human | 58513 | Details Get a Quote |
| EPS15L1 Knockout A-549 Cell Line | EDJ-KQ42768 | Human | 58513 | Details Get a Quote |
| EPS15L1 Knockout HeLa Cell Line | EDJ-KQ42770 | Human | 58513 | Details Get a Quote |
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