EPS15 Gene Summary [Human]
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | EPS15 |
| Official Name | epidermal growth factor receptor pathway substrate 15 [Source:HGNC Symbol;Acc:HGNC:3419] |
| Ensembl ID | ENSG00000085832 |
| Bio databases IDs | |
| Aliases | epidermal growth factor receptor pathway substrate 15 |
| Synonyms | 2410112D09Rik, AF-1P, EGF receptor PATHWAY SUBSTRATE 15, Egfr subs 15, epidermal growth factor receptor pathway substrate 15, MLLT5, Protein Eps15, RGD1307641 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EPS15 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil (CC) domain of Drosophila brain tumor (brat) and similar proteins
- YscO-like protein
- Nuf2, DHR10-like domain
- Flagellar FliJ protein
- Autophagy protein 16 (ATG16)
- B-Box C-terminal domain
- coiled-coil domain
- Golgin subfamily A member 5
- DPF repeat
- identical protein binding
- proline rich domain
- Sh3 domain binding motif
- Prefoldin subunit
- ubiquitin binding domain
- Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
- Eps15 homology binding domain
- Cell division protein ZapB
- Ap-2 binding domain
- SPEC
- TATA element modulatory factor 1 DNA binding
- Domain of unknown function (DUF4515)
- TPR/MLP1/MLP2-like protein
- Tropomyosin like
- PspA/IM30 family
- Ezrin/radixin/moesin, alpha-helical domain
- Domain of unknown function (DUF4618)
- Actin cytoskeleton-regulatory complex protein END3
- Uso1 / p115 like vesicle tethering protein, C terminal region
- EFh
- ubiquitin binding
- central domain
- protein binding
- Helical bimodular sensor domain
- phosphorylation site
- Domain of unknown function (DUF4201)
- Mechanosensitive ion channel porin domain
- flagellar export protein FliJ
- Apg6 coiled-coil region
- MAP7 (E-MAP-115) family
- prefoldin
- Growth-arrest specific micro-tubule binding
- Eps15 homology domain
- Apolipoprotein A1/A4/E domain
- Cytoskeletal-regulatory complex EF hand
- DPF domain
- Domain of unknown function (DUF4200)
Pathways
Biological processes and signaling networks where the EPS15 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- growth failure
- endometriosis
- neonatal late-onset sepsis
- seasonal allergic rhinitis
- cardioembolic stroke
- developmental delay
- acinar-cell carcinoma
- salivary duct carcinoma
- salivary duct cancer
role in cell
- formation
- phosphorylation in
- expression in
- formation in
- quantity
- proliferation
- binding in
- sorafenib sensitivity
- number
- transformation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- membrane fraction
- aggresome
- glutaminergic synapse
- clathrin-coated structures
- intracellular membrane-bounded organelle
- cilia
- cell periphery
- intracellular space
- Plasma Membrane
- endosomes
- vesicles
- Golgi Apparatus
- endocytic nucleation point
- cytosol
- apical membrane
- endocytic zone
- basal membrane
- trans Golgi network
- nerve ending
- synapse
- early endosomes
- endocytotic vesicle
- clathrin-coated pits
- exosomes
- clathrin-coated vesicles
- plasma
- synaptosomal fractions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPS15 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral entry into host cell
- viral entry into host cell via receptor-mediated endocytosis
- vesicle organization
- positive regulation of receptor recycling
- clathrin coat assembly
- protein transport
- endosomal transport
- endocytosis
- regulation of cell proliferation
- Golgi to endosome transport
- endocytic recycling
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- basal plasma membrane
- cytoplasm
- intracellular membrane-bounded organelle
- coated pit
- membrane
- clathrin coat of coated pit
- cytosol
- aggresome
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- polyubiquitin binding
- calcium ion binding
- cadherin binding
- SH3 domain binding