Depdc5 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
The DEPDC5 gene (DEP Domain Containing 5) encodes a member of the DEP (Disheveled, Egl-10, Pleckstrin) domain-containing protein family. DEPDC5 is a component of the GATOR1 complex, a critical regulator of amino acid sensing and mTORC1 signaling. Mutations in DEPDC5 cause autosomal dominant focal epilepsy and are implicated in various neurodegenerative processes.
| Attribute |
Value |
| Symbol |
DEPDC5 |
| Full Name |
DEP Domain Containing 5 |
| Chromosomal Location |
22q12.2 |
| NCBI Gene ID |
9169 |
| Ensembl ID |
ENSG00000048991 |
| UniProt |
O75157 |
DEPDC5 is a 1623-amino acid protein with:
- DEP domain at N-terminus (mediates protein interactions)
- Central region with unknown function
- Multiple phosphorylation sites
DEPDC5 functions as a key regulator of mTORC1 signaling:
- GATOR1 Complex Subunit: Forms part of the GATOR1 complex that inhibits mTORC1
- Amino Acid Sensing: Integrates amino acid availability signals
- Autophagy Regulation: Controls autophagy induction via mTORC1 inhibition
- Cell Growth Control: Negatively regulates cell proliferation and growth
DEPDC5 is ubiquitously expressed with highest levels in:
- Brain
- Heart
- Skeletal muscle
- Kidney
In the brain:
- Autosomal dominant focal epilepsy (ADFE)
- Mutations cause familial epilepsy without brain malformations
- Incomplete penetrance
- PMID:23471845, PMID:23695510
- Tumor suppressor function
- Loss-of-function mutations in cancers
- Renal cell carcinoma, hepatocellular carcinoma
- mTOR Inhibitors: Rapamycin, everolimus for epilepsy
- Autophagy Inducers: Enhance protein clearance
- Ketogenic Diet: May bypass mTOR dysregulation
- Gene Therapy: Nonsense suppression approaches
- Depdc5 knockout mice: Neonatal lethality
- Conditional knockouts: Cortical dysplasia, epilepsy
- Zebrafish: Developmental defects
The study of Depdc5 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- PMID:23471845 - DEPDC5 mutations cause focal epilepsy
- PMID:23695510 - GATOR1 complex function
- PMID:25807345 - DEPDC5 in autism
- PMID:26339610 - Brain development
- PMID:25396082 - mTOR in AD
- PMID:26255403 - Autophagy in AD
- PMID:26925799 - Autophagy in PD
- PMID:28749530 - mTOR and neurodegeneration