Aliases for DEPDC5 Gene
External Ids for DEPDC5 Gene
Previous GeneCards Identifiers for DEPDC5 Gene
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]
GeneCards Summary for DEPDC5 Gene
DEPDC5 (DEP Domain Containing 5) is a Protein Coding gene. Diseases associated with DEPDC5 include Epilepsy, Familial Focal, With Variable Foci 1 and Autosomal Dominant Epilepsy With Auditory Features. Among its related pathways are mTOR signaling pathway (KEGG). GO annotations related to this gene include GTPase activator activity.
UniProtKB/Swiss-Prot for DEPDC5 Gene
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.