DEPDC5 Gene Summary [Human]
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | DEPDC5 |
| Official Name | DEP domain containing 5, GATOR1 subcomplex subunit [Source:HGNC Symbol;Acc:HGNC:18423] |
| Ensembl ID | ENSG00000100150 |
| Bio databases IDs | |
| Aliases | DEP domain containing 5, GATOR1 subcomplex subunit |
| Synonyms | DEE111, DEP.5, DEP domain containing 5, DEP domain containing 5, GATOR1 subcomplex subunit, FFEVF, FFEVF1, FPEVF, KIAA0645 |
| 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 DEPDC5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vacuolar membrane-associated protein Iml1
- Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
- DEP
- binding protein
- DEPDC5 protein C-terminal region
- enzyme binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- acute myeloid leukemia
- COVID-19
- familial focal epilepsy with variable foci
- hereditary disorder
- gastroesophageal reflux
- familial focal epilepsy with variable foci type 1
- non-insulin-dependent diabetes mellitus
- hepatic steatosis
- chronic hepatitis C
role in cell
- phosphorylation in
- proliferation
- signaling in
- hypertrophy
- growth
- cell cycle progression
- cell viability
- capivasertib resistance
- response by
- taselisib resistance
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
- cytosol
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEPDC5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of autophagy
- cellular response to amino acid starvation
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytosol
- Cul3-RING ubiquitin ligase complex
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- GTPase activator activity
- small GTPase binding