EEA1 (Early Endosome Antigen 1)
A key regulator of endosomal trafficking and fusion
Gene Information Card
| Symbol | EEA1 |
|---|---|
| Full Name | Early Endosome Antigen 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 8411 ncbi.nlm.nih.gov/gene/8411 |
| Ensembl ID | ENSG00000102189 |
| UniProt ID | Q15075 |
| OMIM ID | 605070 |
| HGNC ID | 3185 |
| Aliases | ZFYVE2, MSTP17, early endosome-associated protein |
Description
EEA1 encodes a peripheral membrane protein that localizes to early endosomes. It functions as a Rab5 effector, mediating endosomal tethering and fusion through its FYVE zinc finger domain that binds phosphatidylinositol 3-phosphate (PI3P). EEA1 is essential for endocytic trafficking and receptor recycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired endosomal trafficking and autophagy due to EEA1 dysfunction | PMID: 25678563 |
| Cancer (e.g., breast, lung) | Altered endocytosis of growth factor receptors affecting signaling | PMID: 29056325 |
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 |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK 293 | 11.5 | Embryonic kidney cells |
| A549 | 9.8 | Lung carcinoma cells |
| MCF7 | 10.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Altered FYVE domain binding |
| c.567delA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing endosomal tethering.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the FYVE domain may disrupt PI3P binding and inhibit normal EEA1 function.
View complete mutation data：
Gene Ontology (GO)
| • endosome to lysosome transport | • early endosome to late endosome transport |
| • endosomal transport | • protein transport |
| • vesicle fusion | • Rab5 guanyl-nucleotide exchange factor activity |
Pathways
• Endocytosis
• Rab5-mediated endosome fusion
• PI3K/Akt signaling
Protein Summary
EEA1 is a 162 kDa protein that contains a C-terminal FYVE zinc finger domain and an N-terminal calmodulin-binding domain. It forms homodimers and interacts with Rab5-GTP to tether early endosomes, facilitating SNARE-mediated fusion. The protein is critical for maintaining endosomal identity and cargo sorting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEA1 Knockout HEK293 Cell Line | EDJ-KQ3219 | Human | 8411 | Details Get a Quote |
| EEA1 Knockout HeLa Cell Line | EDJ-KQ23321 | Human | 8411 | Details Get a Quote |
| EEA1 Knockout A-549 Cell Line | EDJ-KQ24710 | Human | 8411 | Details Get a Quote |
| EEA1 Knockout HCT 116 Cell Line | EDJ-KQ24711 | Human | 8411 | Details Get a Quote |
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