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). Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ENSG00000285404.
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.