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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EEA1
early endosome antigen 1
Chromosome 12 · 12q22
NCBI Gene: 8411Ensembl: ENSG00000102189.18HGNC: HGNC:3185UniProt: Q15075
144PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-phosphatidylinositol bindingGTP-dependent protein bindingprotein homodimerization activityextracellular exosomeneuroinflammatory disorderexternal ear diseasebenign digestive system neoplasmliver disease
✦AI Summary

EEA1 (Early Endosome Antigen 1) is a key regulator of endosomal trafficking and membrane transport processes. The protein binds phosphatidylinositol 3-phosphate-containing vesicles and participates in endosomal trafficking pathways 12. EEA1 mediates membrane translocation of receptors like EGFR from the Golgi compartment, working in coordination with Rab GTPases to regulate cellular transport 2. The protein plays crucial roles in endocytosis and phagosome maturation, as demonstrated by its involvement in CD36-mediated uptake of large molecules and proteolysis-targeting chimeras 1. EEA1 also participates in autophagy-related processes, including selective autophagy pathways that clear protein aggregates associated with neurodegeneration 3. Functionally, EEA1-positive endosomes serve as critical intermediates in the endolysosomal system, facilitating protein degradation and recycling in highly specialized cells like neurons 4. Disease relevance includes associations with allergic bronchopulmonary aspergillosis, where EEA1 mutations affect macrophage phagocytosis of Aspergillus fumigatus, leading to altered phagolysosome acidification 5. The protein's role in mitophagy regulation also contributes to cardiac hypertrophy induced by low-dose radiation 6.

Sources cited
1
EEA1 participates in CD36-mediated endosomal cascade for uptake of PROTACs and large molecules
PMID: 40250420
2
EEA1 mediates membrane translocation of EGFR from Golgi and coordinates with Rab GTPases
PMID: 36344490
3
EEA1-positive endosomes are critical components of the endolysosomal system in neurons
PMID: 39636867
4
EEA1 domain-containing proteins like Alfy participate in selective autophagy for protein aggregate clearance
PMID: 40945514
5
EEA1 mutations are associated with ABPA and affect macrophage phagocytosis of A. fumigatus
PMID: 29547649
6
EEA1 is involved in mitophagy regulation contributing to cardiac hypertrophy
PMID: 37942585
Disease Associationsⓘ20
neuroinflammatory disorderOpen Targets
0.37Weak
external ear diseaseOpen Targets
0.30Weak
benign digestive system neoplasmOpen Targets
0.29Weak
liver diseaseOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.27Weak
Respiratory insufficiencyOpen Targets
0.24Weak
open-angle glaucomaOpen Targets
0.20Weak
enteritisOpen Targets
0.19Weak
anaphylaxisOpen Targets
0.19Weak
systemic inflammatory response syndromeOpen Targets
0.19Weak
humerus fractureOpen Targets
0.19Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
allergic bronchopulmonary aspergillosisOpen Targets
0.03Suggestive
pemphigusOpen Targets
0.03Suggestive
Dravet syndromeOpen Targets
0.03Suggestive
supranuclear palsy, progressive, 1Open Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
cytomegalovirus infectionOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LAMP2Protein interaction100%RAB4AProtein interaction100%VPS35Protein interaction100%APPL1Protein interaction100%SNX27Protein interaction99%VPS45Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
82%
Ovary
55%
Lung
54%
Liver
40%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
EEA1LAMP2RAB4AVPS35APPL1SNX27VPS45
PROTEIN STRUCTURE
Preparing viewer…
PDB3MJH · 2.03 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.46–0.66]
RankingsWhere EEA1 stands among ~20K protein-coding genes
  • #3,158of 20,598
    Most Researched144 · top quartile
  • #4,860of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedEEA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CD36-mediated endocytosis of proteolysis-targeting chimeras.
PMID: 40250420
Cell · 2025
1.00
2
EGFR tyrosine kinase activity and Rab GTPases coordinate EGFR trafficking to regulate macrophage activation in sepsis.
PMID: 36344490
Cell Death Dis · 2022
0.90
3
Endo-IP and lyso-IP toolkit for endolysosomal profiling of human-induced neurons.
PMID: 39636867
Proc Natl Acad Sci U S A · 2024
0.80
4
A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.
PMID: 40945514
Neuron · 2025
0.70
5
Removal of hypersignaling endosomes by simaphagy.
PMID: 37840274
Autophagy · 2024
0.60