Aliases for TSC1 Gene
External Ids for TSC1 Gene
Previous HGNC Symbols for TSC1 Gene
Previous GeneCards Identifiers for TSC1 Gene
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
GeneCards Summary for TSC1 Gene
TSC1 (Tuberous Sclerosis 1) is a Protein Coding gene. Diseases associated with TSC1 include tuberous sclerosis-1 and focal cortical dysplasia, taylor balloon cell type. Among its related pathways are PI3K-Akt signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein N-terminus binding and GTPase activating protein binding.
UniProtKB/Swiss-Prot for TSC1 Gene
In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.