Disease-gene associations mined from literature

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 ...

Linkouts:  STRING  Pharos  UniProt