Disease-gene associations mined from literature

Literature associating TSC1 and subependymal giant cell astrocytoma

TSC1 [ENSP00000298552]

Hamartin; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). 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 (By similarity). Acts as a co- chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 . Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity . Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins . Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 . ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:16464865,

Synonyms:  TSC1,  TSC1p,  hTSC1,  A0A2R8Y419,  A0A2R8Y5F8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM