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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPN1
epsin 1
Chromosome 19 · 19q13.42
NCBI Gene: 29924Ensembl: ENSG00000063245.16HGNC: HGNC:21604UniProt: Q9Y6I3
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of sprouting angiogenesismolecular sequestering activityprotein bindingendocytosisneurodegenerative diseaseprostate cancermeningiomainfection
✦AI Summary

EPN1 (epsin 1) is a ubiquitin-binding endocytic clathrin adaptor that regulates receptor-mediated endocytosis by binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2)-enriched membranes and facilitating clathrin-coated vesicle formation. The ENTH domain of EPN1 possesses membrane vesiculation activity and remodels membrane curvature to promote endocytic invaginations 1. EPN1 functions as a key component of clathrin-mediated endocytosis (CME) protein interaction networks, where it is recruited during CME site stabilization and growth alongside adaptor proteins like AP2 2. Clinically, EPN1 has relevance in cancer progression. In bladder cancer, EPN1-mediated endocytosis of SNAT2 is suppressed by ubiquitination crosstalk, leading to increased SNAT2 membrane localization, enhanced glutamine uptake, and promotion of lymphangiogenesis and lymph node metastasis 3. Conversely, loss of endothelial EPN1 in tumors impairs VEGFR2 endocytosis and degradation, resulting in excessive VEGF signaling that compromises tumor vascular function and retards tumor growth 4. EPN1 is also identified as a hub gene in pediatric medulloblastoma pathogenesis 5 and correlates with molecular subtypes in meningioma 6. Additionally, EPN1 represents a novel protein showing significant changes during high-intensity interval training responses in human skeletal muscle 7.

Sources cited
1
ENTH domain of EPN1 demonstrates membrane vesiculation activity and curvature sensing
PMID: 39324332
2
EPN1 is a key adaptor protein recruited during clathrin-mediated endocytosis site stabilization and growth
PMID: 39580802
3
EPN1-mediated endocytosis regulates SNAT2 membrane localization and is suppressed in bladder cancer lymphatic metastasis
PMID: 38949026
4
Loss of endothelial EPN1 impairs VEGFR2 endocytosis and degradation, leading to excessive VEGF signaling and compromised tumor vascular function
PMID: 23187125
5
EPN1 is a hub gene associated with pediatric medulloblastoma pathogenesis
PMID: 31820345
6
EPN1 expression correlates with molecular subtypes and potential prognostic markers in meningioma
PMID: 35004283
7
EPN1 shows significant changes in response to high-intensity interval training in human skeletal muscle
PMID: 37698381
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
prostate cancerOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
meningiomaOpen Targets
0.02Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
colon adenomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
prostatitisOpen Targets
0.01Suggestive
ependymomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
cryohydrocytosisOpen Targets
0.00Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRB2Protein interaction100%EGFRProtein interaction100%UBCProtein interaction99%AP2B1Protein interaction97%AP2S1Protein interaction96%AP2M1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
60%
Lung
47%
Brain
37%
Heart
32%
Bone Marrow
17%
Gene Interaction Network
Click a node to explore
EPN1GRB2EGFRUBCAP2B1AP2S1AP2M1
PROTEIN STRUCTURE
Preparing viewer…
PDB1KYD · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.39–0.74]
RankingsWhere EPN1 stands among ~20K protein-coding genes
  • #4,475of 20,598
    Most Researched106 · top quartile
  • #5,755of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedEPN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
UBE2C-induced crosstalk between mono- and polyubiquitination of SNAT2 promotes lymphatic metastasis in bladder cancer.
PMID: 38949026
J Clin Invest · 2024
1.00
2
Intersectin1 promotes clathrin-mediated endocytosis by organizing and stabilizing endocytic protein interaction networks.
PMID: 39580802
Cell Rep · 2024
0.90
3
Methylome and proteome integration in human skeletal muscle uncover group and individual responses to high-intensity interval training.
PMID: 37698381
FASEB J · 2023
0.80
4
Endothelial epsin deficiency decreases tumor growth by enhancing VEGF signaling.
PMID: 23187125
J Clin Invest · 2012
0.70
5
m
PMID: 35004283
Front Oncol · 2021
0.60