TSC1
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) signalling 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. [provided by RefSeq, Apr 2018].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605284 Ensembl IDEnsembl:ENSG00000165699 HGNC IDHGNC:HGNC:12362 PHARMGKB IDPA37034 Map Location9q34.13 | |||||
GO terms in TSC1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005811 | lipid droplet |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005884 | actin filament |
Gene expression in normal tissue: TSC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TSC1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1632852 | Macroautophagy |
| reactome | R-HSA-165159 | mTOR signalling |
| reactome | R-HSA-165181 | Inhibition of TSC complex formation by PKB |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TSC1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.