EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15)
A key endocytic adaptor protein involved in receptor trafficking and signal transduction
Gene Information Card
| Symbol | EPS15 |
|---|---|
| Full Name | Epidermal Growth Factor Receptor Pathway Substrate 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 2060 ncbi.nlm.nih.gov/gene/2060 |
| Ensembl ID | ENSG00000185811 |
| UniProt ID | P42566 |
| OMIM ID | 600051 |
| HGNC ID | 3416 |
| Aliases | AF-1P, MLLT5, AF1P |
Description
EPS15 encodes a protein that functions as a substrate for the epidermal growth factor receptor (EGFR) and is involved in clathrin-mediated endocytosis. It plays a critical role in receptor internalization, intracellular trafficking, and signal transduction. The protein contains multiple EH (Eps15 homology) domains and is implicated in cell growth regulation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | Fusion with MLL (KMT2A) due to t(1;11)(p32;q23) translocation; disrupts normal endocytic regulation | OMIM #600051; COSMIC |
| Breast Cancer | Overexpression and altered localization contribute to EGFR signaling dysregulation | NCBI Gene; PubMed studies |
| Colorectal Cancer | Somatic mutations and copy number alterations affect endocytosis and cell proliferation | COSMIC; ClinVar |
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 |
| Lymph node | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HEK293 | 13.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01 | Unknown; predicted damaging by SIFT |
| c.1567_1568insA (p.Thr523Asnfs*2) | Frameshift | <0.01 | Loss of function; truncation of EH domains |
| t(1;11)(p32;q23) | Translocation | Rare | Fusion with MLL; leukemogenesis |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations truncate the protein, impairing endocytic adaptor function.
Gain of Function (GOF)
Not well characterized; overexpression in cancers may enhance EGFR recycling.
Dominant Negative (DN)
Truncated forms lacking EH domains can interfere with wild-type EPS15 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• EGFR tyrosine kinase inhibitor resistance (KEGG hsa01521)
• Endocytosis (Reactome R-HSA-199991)
Protein Summary
EPS15 is a 896-amino acid protein with three N-terminal EH domains, a coiled-coil region, and a C-terminal domain that interacts with AP-2 and other endocytic proteins. It localizes to clathrin-coated pits and regulates receptor internalization. Post-translational modifications include phosphorylation by EGFR and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPS15 Knockout HEK293 Cell Line | EDJ-KQ4547 | Human | 2060 | Details Get a Quote |
| EPS15L1 Knockout HEK293 Cell Line | EDJ-KQ13311 | Human | 58513 | Details Get a Quote |
| EPS15 Knockout A-549 Cell Line | EDJ-KQ27176 | Human | 2060 | Details Get a Quote |
| EPS15 Knockout HCT 116 Cell Line | EDJ-KQ27177 | Human | 2060 | Details Get a Quote |
| EPS15 Knockout HeLa Cell Line | EDJ-KQ27178 | Human | 2060 | 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 |
Displaying Records 1 To 8 Of 8 Records
