Aliases for RHEB Gene
External Ids for RHEB Gene
Previous HGNC Symbols for RHEB Gene
Previous GeneCards Identifiers for RHEB Gene
This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
GeneCards Summary for RHEB Gene
RHEB (Ras Homolog, MTORC1 Binding) is a Protein Coding gene. Diseases associated with RHEB include Tuberous Sclerosis and Hemimegalencephaly. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Macroautophagy. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RHEBL1.
UniProtKB/Swiss-Prot Summary for RHEB Gene
Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity.