EPN1 (Epsin 1)
Clathrin-mediated endocytosis adaptor protein involved in membrane trafficking and signaling
Gene Information Card
| Symbol | EPN1 |
|---|---|
| Full Name | Epsin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 29925 ncbi.nlm.nih.gov/gene/29925 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9Y6I3 |
| OMIM ID | 607263 |
| HGNC ID | 18273 |
| Aliases | EPS-15-interacting protein 1, Epsin |
Description
EPN1 encodes epsin 1, a protein that functions as an adaptor in clathrin-mediated endocytosis. It binds to clathrin, AP-2, and ubiquitin, facilitating the internalization of membrane receptors and ligands. Epsin 1 also plays roles in cell signaling, cytoskeletal organization, and membrane curvature generation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Loss-of-function mutations in EPN1 impair endocytic trafficking, leading to axonal degeneration. | ClinVar, OMIM |
| Cancer (various) | Altered EPN1 expression affects receptor internalization and signaling pathways (e.g., EGFR). | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| SH-SY5Y | 9.5 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin binding | • ubiquitin binding |
| • phospholipid binding | • clathrin-mediated endocytosis |
| • membrane bending | • intracellular protein transport |
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
Epsin 1 is a 576-amino acid protein containing an N-terminal ENTH domain that binds phosphoinositides and promotes membrane curvature, and multiple ubiquitin-interacting motifs (UIMs) that recognize ubiquitinated cargo. It interacts with clathrin and AP-2 to facilitate vesicle formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPN1 Knockout HEK293 Cell Line | EDJ-KQ9084 | Human | 29924 | Details Get a Quote |
| HEPN1 Knockout HEK293 Cell Line | EDJ-KQ13739 | Human | 641654 | Details Get a Quote |
| EPN1 Knockout A-549 Cell Line | EDJ-KQ35579 | Human | 29924 | Details Get a Quote |
| EPN1 Knockout HCT 116 Cell Line | EDJ-KQ35580 | Human | 29924 | Details Get a Quote |
| EPN1 Knockout HeLa Cell Line | EDJ-KQ35581 | Human | 29924 | Details Get a Quote |
| HEPN1 Knockout HeLa Cell Line | EDJ-KQ60523 | Human | 641654 | Details Get a Quote |
| HEPN1 Knockout A-549 Cell Line | EDJ-KQ68992 | Human | 641654 | Details Get a Quote |
| HEPN1 Knockout HCT 116 Cell Line | EDJ-KQ77351 | Human | 641654 | Details Get a Quote |
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