EPG5 Gene Summary [Human]
This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | EPG5 |
| Official Name | ectopic P-granules autophagy protein 5 homolog [Source:HGNC Symbol;Acc:HGNC:29331] |
| Ensembl ID | ENSG00000152223 |
| Bio databases IDs | |
| Aliases | ectopic P-granules autophagy protein 5 homolog, ectopic P-granules 5 autophagy tethering factor |
| Synonyms | 4732475F16, 5430411K18Rik, AC126553.1, BAB14689.1, ectopic P-granules 5 autophagy tethering factor, EG664910, FLJ13755, HEEW1, KIAA1632, RGD1306286, VICIS |
| 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 EPG5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Pathways
Biological processes and signaling networks where the EPG5 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
- Vici syndrome
- coronary artery disease
- focal cortical dysplasia of Taylor
- centronuclear myopathy
- hereditary disorder
- syndromic retinitis pigmentosa
- growth failure
- kyphosis
- motor dysfunction or movement disorder
- gastric carcinoma
regulates
role in cell
- size
- fusion
- formation
- abnormal morphology
- differentiation
- assembly
- maturation
- apoptosis
- degeneration
- autophagy
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
- perinuclear region
- lysosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPG5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- toll-like receptor 9 signaling pathway
- endosome to lysosome transport
- endocytic recycling
- nucleotide transport
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytoplasm
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding