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 |
|---|---|---|---|---|---|
| TSC complex subunit 1 | MIM:605284 | Ensembl:ENSG00000165699 | HGNC:HGNC:12362 | PA37034 | 9q34.13 |
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 |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005938 | cell cortex |
| CC | IDA | GO:0016020 | membrane |
| CC | IDA | GO:0030027 | lamellipodium |
| CC | IEA | GO:0030426 | growth cone |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IBA | GO:0033596 | TSC1-TSC2 complex |
| CC | IDA | GO:0033596 | TSC1-TSC2 complex |
| CC | ISS | GO:0048471 | perinuclear region of cytoplasm |
| CC | IDA | GO:0101031 | chaperone complex |
| BP | IEA | GO:0001822 | kidney development |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IMP | GO:0001952 | regulation of cell-matrix adhesion |
| BP | IEA | GO:0002250 | adaptive immune response |
| BP | IMP | GO:0006407 | rRNA export from nucleus |
| BP | IDA | GO:0006417 | regulation of translation |
| BP | IEA | GO:0006813 | potassium ion transport |
| BP | IMP | GO:0007160 | cell-matrix adhesion |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | ISS | GO:0008344 | adult locomotory behavior |
| BP | IEA | GO:0010977 | negative regulation of neuron projection development |
| BP | IEA | GO:0016239 | positive regulation of macroautophagy |
| BP | ISS | GO:0016242 | negative regulation of macroautophagy |
| BP | IMP | GO:0017148 | negative regulation of translation |
| BP | IEA | GO:0021766 | hippocampus development |
| BP | IEA | GO:0021987 | cerebral cortex development |
| BP | IEA | GO:0030030 | cell projection organization |
| BP | IBA | GO:0032007 | negative regulation of TOR signaling |
| BP | IMP | GO:0032007 | negative regulation of TOR signaling |
| BP | ISS | GO:0032007 | negative regulation of TOR signaling |
| BP | IDA | GO:0032780 | negative regulation of ATPase activity |
| BP | IDA | GO:0032868 | response to insulin |
| BP | IBA | GO:0032956 | regulation of actin cytoskeleton organization |
| BP | IEA | GO:0034260 | negative regulation of GTPase activity |
| BP | IEA | GO:0042552 | myelination |
| BP | IEA | GO:0043379 | memory T cell differentiation |
| BP | IMP | GO:0043666 | regulation of phosphoprotein phosphatase activity |
| BP | IEA | GO:0045792 | negative regulation of cell size |
| BP | IEA | GO:0045859 | regulation of protein kinase activity |
| BP | IEA | GO:0046323 | glucose import |
| BP | IBA | GO:0046627 | negative regulation of insulin receptor signaling pathway |
| BP | IEA | GO:0050808 | synapse organization |
| BP | IDA | GO:0050821 | protein stabilization |
| BP | IMP | GO:0050821 | protein stabilization |
| BP | IEA | GO:0051291 | protein heterooligomerization |
| BP | IDA | GO:0051492 | regulation of stress fiber assembly |
| BP | IEA | GO:0051496 | positive regulation of stress fiber assembly |
| BP | IBA | GO:0051726 | regulation of cell cycle |
| BP | IDA | GO:0051894 | positive regulation of focal adhesion assembly |
| BP | IEA | GO:0055007 | cardiac muscle cell differentiation |
| BP | IDA | GO:0090630 | activation of GTPase activity |
| BP | ISS | GO:0090650 | cellular response to oxygen-glucose deprivation |
| BP | ISS | GO:1901214 | regulation of neuron death |
| BP | IEA | GO:1903204 | negative regulation of oxidative stress-induced neuron death |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0030544 | Hsp70 protein binding |
| MF | IEA | GO:0032794 | GTPase activating protein binding |
| MF | IDA | GO:0042030 | ATPase inhibitor activity |
| MF | IPI | GO:0047485 | protein N-terminus binding |
| MF | IPI | GO:0051087 | chaperone binding |
| MF | IPI | GO:0051879 | Hsp90 protein binding |
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 |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-380972 | Energy dependent regulation of mTOR by LKB1-AMPK |
| reactome | R-HSA-5628897 | TP53 Regulates Metabolic Genes |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8854214 | TBC/RABGAPs |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
| biocarta | mtorpathway | mtor signaling pathway |
| pid | lkb1_pathway | LKB1 signaling events |
| pid | mtor_4pathway | mTOR signaling pathway |
| kegg | hsa04072 | Phospholipase D signaling pathway - Homo sapiens (human) |
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| kegg | hsa04150 | mTOR signaling pathway - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04152 | AMPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04211 | Longevity regulating pathway - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
| kegg | hsa04910 | Insulin signaling pathway - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| wikipathways | WP1403 | AMP-activated Protein Kinase (AMPK) Signaling |
| wikipathways | WP1471 | Target Of Rapamycin (TOR) Signaling |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| wikipathways | WP2509 | Nanoparticle triggered autophagic cell death |
| wikipathways | WP2571 | Polycystic Kidney Disease Pathway |
| wikipathways | WP363 | Wnt Signaling Pathway |
| wikipathways | WP3676 | BDNF-TrkB Signaling |
| wikipathways | WP3879 | 4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression |
| wikipathways | WP3915 | Angiopoietin Like Protein 8 Regulatory Pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4018 | Pathways in clear cell renal cell carcinoma |
| wikipathways | WP4141 | PI3K-AKT-mTOR - VitD3 Signalling |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP481 | Insulin Signaling |
| smpdb | SMP00682 | Leucine Stimulation on Insulin Signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD857 | BRD-K70511574 | 1 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD587 | CHEMBL585951 | 1 |
| iGMDRD494 | Neopeltolide | 4 |
| iGMDRD528 | rigosertib | 1 |
| iGMDRD66 | Doxorubicin | 1 |
| iGMDRD193 | Fqi1 | 4 |
| iGMDRD446 | LY 2183240 | 4 |
| iGMDRD235 | SNS-032 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD348 | BMS-345541 | 1 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD700 | AUY922 | 1 |
| iGMDRD613 | CHEMBL258148 | 1 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD138 | PX 12 | 4 |
| iGMDRD574 | Ruxolitinib | 1 |
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD609 | BRD-K66453893 | 1 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD145 | Omacetaxine mepesuccinate | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD268 | Cerulenin | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD798 | Ceranib-2 | 1 |
| iGMDRD299 | ICL 670 | 2 |
| iGMDRD160 | Cis-Platin | 1 |
| iGMDRD116 | CD437 | 3 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD310 | Everolimus | 27 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD865 | BRD-M00053801 | 1 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD646 | PHA-793887 | 1 |
| iGMDRD556 | Quizartinib | 1 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD866 | BRD1812 | 1 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD535 | SRT-1720 | 1 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD151 | CHM-1 | 4 |
| iGMDRD126 | Tipifarnib | 4 |
| iGMDRD254 | Mdivi-1 | 1 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD779 | PRL-3 Inhibitor I | 2 |
| iGMDRD856 | BRD-K66532283 | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD107 | Valdecoxib | 2 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD778 | SCHEMBL13586708 | 1 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD41 | Imatinib | 2 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD64 | Parbendazole | 4 |
| iGMDRD392 | Masitinib | 1 |
| iGMDRD583 | LDN 193189 | 1 |
| iGMDRD150 | RITA | 2 |
| iGMDRD341 | Triacsin c | 2 |
| iGMDRD707 | BRD-K14844214 | 1 |
| iGMDRD123 | Isoevodiamine | 4 |
| iGMDRD5 | Tyrphostin AG 1478 | 2 |
| iGMDRD293 | Bleomycin | 1 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD137 | Indisulam | 4 |
| iGMDRD158 | NSC141540 | 1 |
| iGMDRD251 | ML162 | 2 |
| iGMDRD949 | mTOR inhibitor | 9 |
| iGMDRD77 | Itraconazole | 1 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD119 | Temsirolimus | 2 |
| iGMDRD286 | Nsc 632839 | 4 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD552 | AZD-1775 | 1 |
| iGMDRD245 | FH535 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TSC1
CLASSFICATION
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