| Protein Name | TSC complex subunit 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7248 |
| Gene Symbol | TSC1 |
| UniProt | Q92574 (TSC1_HUMAN), A0A2R8Y5S3 (A0A2R8Y5S3_HUMAN), Q86WV8 (Q86WV8_HUMAN), X5D9D2 (X5D9D2_HUMAN), Q32NF0 (Q32NF0_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
220
Total Number of Articles : 364 |
Description |
TSC complex subunit 1 |
| Gene Summary |
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] |
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| Properties | |