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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
TSC complex subunit 1MIM:605284Ensembl:ENSG00000165699HGNC:HGNC:12362PA370349q34.13

GO terms in TSC1


Term TypeEvidence TypeGO Term IDGO Des.
CCISSGO:0005634nucleus
CCIDAGO:0005737cytoplasm
CCIDAGO:0005811lipid droplet
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIDAGO:0005884actin filament
CCTASGO:0005886plasma membrane
CCIDAGO:0005938cell cortex
CCIDAGO:0016020membrane
CCIDAGO:0030027lamellipodium
CCIEAGO:0030426growth cone
CCIDAGO:0032991protein-containing complex
CCIBAGO:0033596TSC1-TSC2 complex
CCIDAGO:0033596TSC1-TSC2 complex
CCISSGO:0048471perinuclear region of cytoplasm
CCIDAGO:0101031chaperone complex
BPIEAGO:0001822kidney development
BPIEAGO:0001843neural tube closure
BPIMPGO:0001952regulation of cell-matrix adhesion
BPIEAGO:0002250adaptive immune response
BPIMPGO:0006407rRNA export from nucleus
BPIDAGO:0006417regulation of translation
BPIEAGO:0006813potassium ion transport
BPIMPGO:0007160cell-matrix adhesion
BPIMPGO:0008285negative regulation of cell proliferation
BPISSGO:0008344adult locomotory behavior
BPIEAGO:0010977negative regulation of neuron projection development
BPIEAGO:0016239positive regulation of macroautophagy
BPISSGO:0016242negative regulation of macroautophagy
BPIMPGO:0017148negative regulation of translation
BPIEAGO:0021766hippocampus development
BPIEAGO:0021987cerebral cortex development
BPIEAGO:0030030cell projection organization
BPIBAGO:0032007negative regulation of TOR signaling
BPIMPGO:0032007negative regulation of TOR signaling
BPISSGO:0032007negative regulation of TOR signaling
BPIDAGO:0032780negative regulation of ATPase activity
BPIDAGO:0032868response to insulin
BPIBAGO:0032956regulation of actin cytoskeleton organization
BPIEAGO:0034260negative regulation of GTPase activity
BPIEAGO:0042552myelination
BPIEAGO:0043379memory T cell differentiation
BPIMPGO:0043666regulation of phosphoprotein phosphatase activity
BPIEAGO:0045792negative regulation of cell size
BPIEAGO:0045859regulation of protein kinase activity
BPIEAGO:0046323glucose import
BPIBAGO:0046627negative regulation of insulin receptor signaling pathway
BPIEAGO:0050808synapse organization
BPIDAGO:0050821protein stabilization
BPIMPGO:0050821protein stabilization
BPIEAGO:0051291protein heterooligomerization
BPIDAGO:0051492regulation of stress fiber assembly
BPIEAGO:0051496positive regulation of stress fiber assembly
BPIBAGO:0051726regulation of cell cycle
BPIDAGO:0051894positive regulation of focal adhesion assembly
BPIEAGO:0055007cardiac muscle cell differentiation
BPIDAGO:0090630activation of GTPase activity
BPISSGO:0090650cellular response to oxygen-glucose deprivation
BPISSGO:1901214regulation of neuron death
BPIEAGO:1903204negative regulation of oxidative stress-induced neuron death
MFIPIGO:0005515protein binding
MFIDAGO:0030544Hsp70 protein binding
MFIEAGO:0032794GTPase activating protein binding
MFIDAGO:0042030ATPase inhibitor activity
MFIPIGO:0047485protein N-terminus binding
MFIPIGO:0051087chaperone binding
MFIPIGO:0051879Hsp90 protein binding

Gene expression in normal tissue: TSC1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TSC1


DatabasePathway IDPathway Des.
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1632852Macroautophagy
reactomeR-HSA-165159mTOR signalling
reactomeR-HSA-165181Inhibition of TSC complex formation by PKB
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3700989Transcriptional Regulation by TP53
reactomeR-HSA-380972Energy dependent regulation of mTOR by LKB1-AMPK
reactomeR-HSA-5628897TP53 Regulates Metabolic Genes
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8854214TBC/RABGAPs
reactomeR-HSA-8953897Cellular responses to external stimuli
reactomeR-HSA-9007101Rab regulation of trafficking
biocartamtorpathwaymtor signaling pathway
pidlkb1_pathwayLKB1 signaling events
pidmtor_4pathwaymTOR signaling pathway
kegghsa04072Phospholipase D signaling pathway - Homo sapiens (human)
kegghsa04140Autophagy - animal - Homo sapiens (human)
kegghsa04150mTOR signaling pathway - Homo sapiens (human)
kegghsa04151PI3K-Akt signaling pathway - Homo sapiens (human)
kegghsa04152AMPK signaling pathway - Homo sapiens (human)
kegghsa04211Longevity regulating pathway - Homo sapiens (human)
kegghsa04218Cellular senescence - Homo sapiens (human)
kegghsa04714Thermogenesis - Homo sapiens (human)
kegghsa04910Insulin signaling pathway - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
kegghsa05231Choline metabolism in cancer - Homo sapiens (human)
wikipathwaysWP1403AMP-activated Protein Kinase (AMPK) Signaling
wikipathwaysWP1471Target Of Rapamycin (TOR) Signaling
wikipathwaysWP1984Integrated Breast Cancer Pathway
wikipathwaysWP2261Signaling Pathways in Glioblastoma
wikipathwaysWP2509Nanoparticle triggered autophagic cell death
wikipathwaysWP2571Polycystic Kidney Disease Pathway
wikipathwaysWP363Wnt Signaling Pathway
wikipathwaysWP3676BDNF-TrkB Signaling
wikipathwaysWP38794-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression
wikipathwaysWP3915Angiopoietin Like Protein 8 Regulatory Pathway
wikipathwaysWP3932Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
wikipathwaysWP4018Pathways in clear cell renal cell carcinoma
wikipathwaysWP4141PI3K-AKT-mTOR - VitD3 Signalling
wikipathwaysWP4172PI3K-Akt Signaling Pathway
wikipathwaysWP481Insulin Signaling
smpdbSMP00682Leucine Stimulation on Insulin Signaling

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD772BRD47702
iGMDRD857BRD-K705115741
iGMDRD1008SR-II-138A2
iGMDRD587CHEMBL5859511
iGMDRD494Neopeltolide4
iGMDRD528rigosertib1
iGMDRD66Doxorubicin1
iGMDRD193Fqi14
iGMDRD446LY 21832404
iGMDRD235SNS-0321
iGMDRD634SCHEMBL26080413
iGMDRD280CYTOCHALASIN B5
iGMDRD348BMS-3455411
iGMDRD297Austocystin D3
iGMDRD700AUY9221
iGMDRD613CHEMBL2581481
iGMDRD255SB2250022
iGMDRD8024-methylfasudil2
iGMDRD138PX 124
iGMDRD574Ruxolitinib1
iGMDRD782DC-45-A23
iGMDRD609BRD-K664538931
iGMDRD577BIX012946
iGMDRD145Omacetaxine mepesuccinate1
iGMDRD887Compound 23 citrate2
iGMDRD100Zebularine2
iGMDRD268Cerulenin1
iGMDRD512nutlin 33
iGMDRD798Ceranib-21
iGMDRD299ICL 6702
iGMDRD160Cis-Platin1
iGMDRD116CD4373
iGMDRD351GW843682X3
iGMDRD57Chloropentafluorobenzene2
iGMDRD85Ursolic acid1
iGMDRD211(1S,3R)-RSL33
iGMDRD901ELCPK3
iGMDRD310Everolimus27
iGMDRD271Brefeldin A2
iGMDRD865BRD-M000538011
iGMDRD414MST-3123
iGMDRD646PHA-7938871
iGMDRD556Quizartinib1
iGMDRD300Tozasertib2
iGMDRD866BRD18121
iGMDRD889Compound 7d-cis2
iGMDRD409Saracatinib1
iGMDRD535SRT-17201
iGMDRD433Lexibulin2
iGMDRD151CHM-14
iGMDRD126Tipifarnib4
iGMDRD254Mdivi-11
iGMDRD781Sirolimus3
iGMDRD483SCH-5290742
iGMDRD670ML 2103
iGMDRD779PRL-3 Inhibitor I2
iGMDRD856BRD-K665322831
iGMDRD61Kinetin riboside3
iGMDRD107Valdecoxib2
iGMDRD679Bistramide A1
iGMDRD778SCHEMBL135867081
iGMDRD260FQI-23
iGMDRD474Avrainvillamide3
iGMDRD294Batimastat2
iGMDRD171Pemetrexed3
iGMDRD888Compound 442
iGMDRD399Selumetinib3
iGMDRD188Piperlongumine2
iGMDRD41Imatinib2
iGMDRD190Nilotinib1
iGMDRD64Parbendazole4
iGMDRD392Masitinib1
iGMDRD583LDN 1931891
iGMDRD150RITA2
iGMDRD341Triacsin c2
iGMDRD707BRD-K148442141
iGMDRD123Isoevodiamine4
iGMDRD5Tyrphostin AG 14782
iGMDRD293Bleomycin1
iGMDRD121GMX17783
iGMDRD137Indisulam4
iGMDRD158NSC1415401
iGMDRD251ML1622
iGMDRD949mTOR inhibitor9
iGMDRD77Itraconazole1
iGMDRD705Nakiterpiosin2
iGMDRD289Parthenolide1
iGMDRD366PI-1033
iGMDRD329Merck603
iGMDRD119Temsirolimus2
iGMDRD286Nsc 6328394
iGMDRD871BRD63683
iGMDRD552AZD-17751
iGMDRD245FH5351

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TSC1

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