Literature associating DEPDC5 and autosomal dominant severe congenital neutropenia
DEPDC5 [ENSP00000383105]
DEP domain-containing protein 5; 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.
Synonyms: DEPDC5, DEPDC5p, hDEPDC5, B4DGG3, C9JGS4 ...