Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Cytoplasm Membrane Peripheral membrane protein Note=At steady state found in association with membranes. |
Domain |
PF04388 Hamartin protein |
Function |
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 (PubMed:15340059). 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 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155). |
Biological Process |
GO:0001655 urogenital system development GO:0001822 kidney development GO:0001838 embryonic epithelial tube formation GO:0001841 neural tube formation GO:0001843 neural tube closure GO:0001952 regulation of cell-matrix adhesion GO:0001954 positive regulation of cell-matrix adhesion GO:0002250 adaptive immune response GO:0002263 cell activation involved in immune response GO:0002285 lymphocyte activation involved in immune response GO:0002286 T cell activation involved in immune response GO:0002292 T cell differentiation involved in immune response GO:0002366 leukocyte activation involved in immune response GO:0002521 leukocyte differentiation GO:0006403 RNA localization GO:0006405 RNA export from nucleus GO:0006407 rRNA export from nucleus GO:0006417 regulation of translation GO:0006470 protein dephosphorylation GO:0006813 potassium ion transport GO:0006913 nucleocytoplasmic transport GO:0006914 autophagy GO:0007015 actin filament organization GO:0007044 cell-substrate junction assembly GO:0007045 cell-substrate adherens junction assembly GO:0007050 cell cycle arrest GO:0007159 leukocyte cell-cell adhesion GO:0007160 cell-matrix adhesion GO:0007272 ensheathment of neurons GO:0007507 heart development GO:0007626 locomotory behavior GO:0008286 insulin receptor signaling pathway GO:0008344 adult locomotory behavior GO:0008361 regulation of cell size GO:0008366 axon ensheathment GO:0008643 carbohydrate transport GO:0008645 hexose transport GO:0009991 response to extracellular stimulus GO:0010506 regulation of autophagy GO:0010507 negative regulation of autophagy GO:0010608 posttranscriptional regulation of gene expression GO:0010810 regulation of cell-substrate adhesion GO:0010811 positive regulation of cell-substrate adhesion GO:0010921 regulation of phosphatase activity GO:0014020 primary neural tube formation GO:0014706 striated muscle tissue development GO:0015672 monovalent inorganic cation transport GO:0015749 monosaccharide transport GO:0015758 glucose transport GO:0015931 nucleobase-containing compound transport GO:0016236 macroautophagy GO:0016241 regulation of macroautophagy GO:0016242 negative regulation of macroautophagy GO:0016311 dephosphorylation GO:0016331 morphogenesis of embryonic epithelium GO:0017148 negative regulation of translation GO:0021537 telencephalon development GO:0021543 pallium development GO:0021761 limbic system development GO:0021766 hippocampus development GO:0021915 neural tube development GO:0021987 cerebral cortex development GO:0022613 ribonucleoprotein complex biogenesis GO:0030038 contractile actin filament bundle assembly GO:0030098 lymphocyte differentiation GO:0030217 T cell differentiation GO:0030534 adult behavior GO:0030900 forebrain development GO:0031032 actomyosin structure organization GO:0031589 cell-substrate adhesion GO:0031647 regulation of protein stability GO:0031667 response to nutrient levels GO:0031668 cellular response to extracellular stimulus GO:0031669 cellular response to nutrient levels GO:0031929 TOR signaling GO:0032006 regulation of TOR signaling GO:0032007 negative regulation of TOR signaling GO:0032231 regulation of actin filament bundle assembly GO:0032535 regulation of cellular component size GO:0032868 response to insulin GO:0032869 cellular response to insulin stimulus GO:0032956 regulation of actin cytoskeleton organization GO:0032970 regulation of actin filament-based process GO:0034248 regulation of cellular amide metabolic process GO:0034249 negative regulation of cellular amide metabolic process GO:0034329 cell junction assembly GO:0034330 cell junction organization GO:0034332 adherens junction organization GO:0034333 adherens junction assembly GO:0035051 cardiocyte differentiation GO:0035148 tube formation GO:0035239 tube morphogenesis GO:0035303 regulation of dephosphorylation GO:0035304 regulation of protein dephosphorylation GO:0036293 response to decreased oxygen levels GO:0036294 cellular response to decreased oxygen levels GO:0042110 T cell activation GO:0042254 ribosome biogenesis GO:0042552 myelination GO:0042692 muscle cell differentiation GO:0043149 stress fiber assembly GO:0043379 memory T cell differentiation GO:0043434 response to peptide hormone GO:0043666 regulation of phosphoprotein phosphatase activity GO:0044089 positive regulation of cellular component biogenesis GO:0044708 single-organism behavior GO:0045216 cell-cell junction organization GO:0045785 positive regulation of cell adhesion GO:0045786 negative regulation of cell cycle GO:0045792 negative regulation of cell size GO:0046323 glucose import GO:0046626 regulation of insulin receptor signaling pathway GO:0046627 negative regulation of insulin receptor signaling pathway GO:0048041 focal adhesion assembly GO:0048738 cardiac muscle tissue development GO:0050657 nucleic acid transport GO:0050658 RNA transport GO:0050808 synapse organization GO:0050821 protein stabilization GO:0051017 actin filament bundle assembly GO:0051029 rRNA transport GO:0051146 striated muscle cell differentiation GO:0051168 nuclear export GO:0051169 nuclear transport GO:0051236 establishment of RNA localization GO:0051259 protein oligomerization GO:0051291 protein heterooligomerization GO:0051492 regulation of stress fiber assembly GO:0051493 regulation of cytoskeleton organization GO:0051893 regulation of focal adhesion assembly GO:0051894 positive regulation of focal adhesion assembly GO:0055007 cardiac muscle cell differentiation GO:0060537 muscle tissue development GO:0060562 epithelial tube morphogenesis GO:0060606 tube closure GO:0061572 actin filament bundle organization GO:0070482 response to oxygen levels GO:0070486 leukocyte aggregation GO:0070489 T cell aggregation GO:0070997 neuron death GO:0071166 ribonucleoprotein complex localization GO:0071375 cellular response to peptide hormone stimulus GO:0071417 cellular response to organonitrogen compound GO:0071426 ribonucleoprotein complex export from nucleus GO:0071428 rRNA-containing ribonucleoprotein complex export from nucleus GO:0071453 cellular response to oxygen levels GO:0071496 cellular response to external stimulus GO:0071593 lymphocyte aggregation GO:0072001 renal system development GO:0072175 epithelial tube formation GO:0090066 regulation of anatomical structure size GO:0090109 regulation of cell-substrate junction assembly GO:0090630 activation of GTPase activity GO:0090649 response to oxygen-glucose deprivation GO:0090650 cellular response to oxygen-glucose deprivation GO:1900076 regulation of cellular response to insulin stimulus GO:1900077 negative regulation of cellular response to insulin stimulus GO:1901214 regulation of neuron death GO:1901652 response to peptide GO:1901653 cellular response to peptide GO:1901888 regulation of cell junction assembly GO:1901890 positive regulation of cell junction assembly GO:1902532 negative regulation of intracellular signal transduction GO:1903391 regulation of adherens junction organization GO:1903393 positive regulation of adherens junction organization |
Molecular Function |
GO:0030695 GTPase regulator activity GO:0032794 GTPase activating protein binding GO:0047485 protein N-terminus binding GO:0051087 chaperone binding GO:0060589 nucleoside-triphosphatase regulator activity |
Cellular Component |
GO:0005884 actin filament GO:0005938 cell cortex GO:0015629 actin cytoskeleton GO:0030027 lamellipodium GO:0030426 growth cone GO:0030427 site of polarized growth GO:0031252 cell leading edge GO:0033596 TSC1-TSC2 complex GO:0044445 cytosolic part GO:0099568 cytoplasmic region |
KEGG |
hsa04140 Regulation of autophagy hsa04150 mTOR signaling pathway hsa04151 PI3K-Akt signaling pathway hsa04152 AMPK signaling pathway hsa04910 Insulin signaling pathway |
Reactome |
R-HSA-2262752: Cellular responses to stress R-HSA-380972: Energy dependent regulation of mTOR by LKB1-AMPK R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-2428924: IGF1R signaling cascade R-HSA-112399: IRS-mediated signalling R-HSA-2428928: IRS-related events triggered by IGF1R R-HSA-165181: Inhibition of TSC complex formation by PKB R-HSA-74751: Insulin receptor signalling cascade R-HSA-1632852: Macroautophagy R-HSA-199991: Membrane Trafficking R-HSA-109704: PI3K Cascade R-HSA-109703: PKB-mediated events R-HSA-162582: Signal Transduction R-HSA-74752: Signaling by Insulin receptor R-HSA-2404192: Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) R-HSA-8854214: TBC/RABGAPs R-HSA-5628897: TP53 Regulates Metabolic Genes R-HSA-3700989: Transcriptional Regulation by TP53 R-HSA-5653656: Vesicle-mediated transport R-HSA-165159: mTOR signalling |
Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between TSC1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
Literatures describing the relation between TSC1 and anti-tumor immunity in human cancer.
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Summary | |
---|---|
Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of TSC1 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of TSC1 in various data sets.
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Points in the above scatter plot represent the mutation difference of TSC1 in various data sets.
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Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of TSC1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of TSC1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by TSC1. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of TSC1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of TSC1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | TSC1 |
Name | tuberous sclerosis 1 |
Aliases | KIAA0243; hamartin; tuberous sclerosis 1 protein; tumor suppressor |
Chromosomal Location | 9q34 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between TSC1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |