======= TSC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TSC1
  * **<color #00a2e8>Official Name</color>**: TSC complex subunit 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7248|7248]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92574|Q92574]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TSC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TSC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605284|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. {ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:28215400}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Hamartin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|immunological memory process|
|immunological memory formation process|
|memory T cell differentiation|
|rRNA export from nucleus|
|TSC1-TSC2 complex|
|rRNA transport|
|ATPase inhibitor activity|
|cellular response to oxygen-glucose deprivation|
|response to oxygen-glucose deprivation|
|glucose import|
|chaperone complex|
|negative regulation of cell size|
|rRNA-containing ribonucleoprotein complex export from nucleus|
|GTPase activating protein binding|
|negative regulation of ATPase activity|
|negative regulation of oxidative stress-induced neuron death|
|positive regulation of focal adhesion assembly|
|regulation of oxidative stress-induced neuron death|
|positive regulation of adherens junction organization|
|T cell differentiation involved in immune response|
|glucose transmembrane transport|
|positive regulation of cell junction assembly|
|negative regulation of macroautophagy|
|negative regulation of insulin receptor signaling pathway|
|hexose transmembrane transport|
|negative regulation of cellular response to insulin stimulus|
|monosaccharide transmembrane transport|
|ncRNA export from nucleus|
|carbohydrate transmembrane transport|
|Hsp90 protein binding|
|Hsp70 protein binding|
|negative regulation of oxidative stress-induced cell death|
|negative regulation of cellular response to oxidative stress|
|negative regulation of GTPase activity|
|negative regulation of response to oxidative stress|
|negative regulation of TOR signaling|
|positive regulation of cell-matrix adhesion|
|positive regulation of stress fiber assembly|
|regulation of cell-substrate junction assembly|
|regulation of focal adhesion assembly|
|positive regulation of actin filament bundle assembly|
|regulation of oxidative stress-induced cell death|
|T cell activation involved in immune response|
|regulation of insulin receptor signaling pathway|
|positive regulation of macroautophagy|
|regulation of adherens junction organization|
|regulation of cellular response to insulin stimulus|
|regulation of cellular response to oxidative stress|
|carbohydrate transport|
|adult locomotory behavior|
|regulation of stress fiber assembly|
|hippocampus development|
|actin filament|
|regulation of ATPase activity|
|lipid droplet|
|negative regulation of autophagy|
|regulation of response to oxidative stress|
|cardiac muscle cell differentiation|
|regulation of cell junction assembly|
|regulation of actomyosin structure organization|
|neural tube closure|
|tube closure|
|regulation of actin filament bundle assembly|
|primary neural tube formation|
|activation of GTPase activity|
|regulation of TOR signaling|
|chaperone binding|
|neural tube formation|
|myelination|
|protein heterooligomerization|
|protein N-terminus binding|
|ensheathment of neurons|
|axon ensheathment|
|limbic system development|
|lymphocyte activation involved in immune response|
|regulation of cell-matrix adhesion|
|cardiocyte differentiation|
|cerebral cortex development|
|regulation of phosphoprotein phosphatase activity|
|positive regulation of autophagy|
|positive regulation of cell-substrate adhesion|
|embryonic epithelial tube formation|
|ribonucleoprotein complex export from nucleus|
|ribonucleoprotein complex localization|
|cell-matrix adhesion|
|RNA export from nucleus|
|growth cone|
|negative regulation of translation|
|epithelial tube formation|
|T cell differentiation|
|cell cortex|
|regulation of protein dephosphorylation|
|morphogenesis of embryonic epithelium|
|adult behavior|
|tube formation|
|negative regulation of cellular amide metabolic process|
|protein export from nucleus|
|negative regulation of neuron projection development|
|nuclear export|
|neural tube development|
|cardiac muscle tissue development|
|potassium ion transport|
|regulation of macroautophagy|
|pallium development|
|regulation of phosphatase activity|
|protein stabilization|
|lamellipodium|
|regulation of cell size|
|negative regulation of cell projection organization|
|cell-substrate adhesion|
|RNA transport|
|nucleic acid transport|
|establishment of RNA localization|
|locomotory behavior|
|positive regulation of supramolecular fiber organization|
|cellular response to decreased oxygen levels|
|striated muscle cell differentiation|
|negative regulation of neuron death|
|regulation of dephosphorylation|
|regulation of cell-substrate adhesion|
|cellular response to oxygen levels|
|RNA localization|
|positive regulation of cytoskeleton organization|
|negative regulation of neuron differentiation|
|response to insulin|
|cellular response to nutrient levels|
|T cell activation|
|lymphocyte differentiation|
|nucleobase-containing compound transport|
|muscle cell differentiation|
|negative regulation of cellular catabolic process|
|postsynaptic density|
|protein-containing complex localization|
|telencephalon development|
|regulation of actin filament organization|
|nucleocytoplasmic transport|
|cellular response to extracellular stimulus|
|nuclear transport|
|kidney development|
|synapse organization|
|striated muscle tissue development|
|renal system development|
|regulation of protein stability|
|negative regulation of neurogenesis|
|muscle tissue development|
|ribosome biogenesis|
|epithelial tube morphogenesis|
|negative regulation of catabolic process|
|regulation of neuron death|
|negative regulation of nervous system development|
|urogenital system development|
|leukocyte differentiation|
|regulation of autophagy|
|negative regulation of cell development|
|cellular response to external stimulus|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|regulation of translation|
|response to decreased oxygen levels|
|positive regulation of cellular catabolic process|
|regulation of cellular component size|
|response to oxygen levels|
|lymphocyte activation|
|forebrain development|
|regulation of actin filament-based process|
|response to peptide hormone|
|monovalent inorganic cation transport|
|regulation of cellular amide metabolic process|
|positive regulation of cell adhesion|
|positive regulation of GTPase activity|
|positive regulation of catabolic process|
|morphogenesis of an epithelium|
|negative regulation of hydrolase activity|
|ribonucleoprotein complex biogenesis|
|response to peptide|
|muscle structure development|
|regulation of GTPase activity|
|regulation of neuron projection development|
|response to nutrient levels|
|negative regulation of intracellular signal transduction|
|regulation of anatomical structure size|
|protein complex oligomerization|
|positive regulation of cellular component biogenesis|
|posttranscriptional regulation of gene expression|
|heart development|
|response to extracellular stimulus|
|regulation of cytoskeleton organization|
|hemopoiesis|
|tissue morphogenesis|
|embryonic morphogenesis|
|behavior|
|protein-containing complex|
|hematopoietic or lymphoid organ development|
|adaptive immune response|
|positive regulation of organelle organization|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|chordate embryonic development|
|metal ion transport|
|immune system development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|regulation of neuron differentiation|
|negative regulation of cell population proliferation|
|regulation of cell adhesion|
|regulation of plasma membrane bounded cell projection organization|
|perinuclear region of cytoplasm|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|regulation of cellular response to stress|
|brain development|
|positive regulation of hydrolase activity|
|head development|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|regulation of neurogenesis|
|cation transport|
|regulation of cellular catabolic process|
|tube development|
|circulatory system development|
|regulation of kinase activity|
|anatomical structure formation involved in morphogenesis|
|response to hormone|
|regulation of nervous system development|
|leukocyte activation|
|cell adhesion|
|regulation of cell development|
|biological adhesion|
|negative regulation of developmental process|
|regulation of cellular component biogenesis|
|regulation of transferase activity|
|embryo development|
|central nervous system development|
|intracellular protein transport|
|regulation of catabolic process|
|negative regulation of cell death|
|response to organonitrogen compound|
|negative regulation of cellular protein metabolic process|
|cell activation|
|response to nitrogen compound|
|immune effector process|
|negative regulation of protein metabolic process|
|epithelium development|
|negative regulation of molecular function|
|response to abiotic stimulus|
|cell projection organization|
|regulation of cell cycle|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|negative regulation of signal transduction|
|transmembrane transport|
|regulation of hydrolase activity|
|regulation of organelle organization|
|negative regulation of cell communication|
|negative regulation of signaling|
|ion transport|
|negative regulation of cellular macromolecule biosynthetic process|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|regulation of response to stress|
|protein transport|
|negative regulation of cellular biosynthetic process|
|intracellular transport|
|generation of neurons|
|peptide transport|
|negative regulation of biosynthetic process|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|establishment of protein localization|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|neurogenesis|
|regulation of cell death|
|negative regulation of gene expression|
|tissue development|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|immune response|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|-3.28|
|[[:results:exp515|PU-H71 1μM R08 exp515]]|-3.14|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|-3|
|[[:results:exp466|Cannabidiol 20μM R08 exp466]]|-2.76|
|[[:results:exp467|CAY10603 0.55μM R08 exp467]]|-2.62|
|[[:results:exp80|RO-3307 4.7μM R02 exp80]]|-2.57|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|-2.51|
|[[:results:exp274|Citral 50μM R06 exp274]]|-2.5|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|-2.49|
|[[:results:exp59|UMK57 1μM R01 exp59]]|-2.4|
|[[:results:exp239|PFI-2 4μM R05 exp239]]|-2.29|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|-2.27|
|[[:results:exp311|2-Methoxyestradiol 0.55 to 0.75μM  on day4 R07 exp311]]|-2.24|
|[[:results:exp450|Artemisinin 50μM R08 exp450]]|-2.19|
|[[:results:exp310|2-Methoxyestradiol 0.55μM R07 exp310]]|-2.17|
|[[:results:exp526|Sulforaphane 9μM R08 exp526 no dilution day6]]|-2.11|
|[[:results:exp455|Benzoate 10000μM R08 exp455]]|-2.08|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-2.05|
|[[:results:exp290|LLY-283 2.6μM R06 exp290]]|-2.04|
|[[:results:exp399|Salubrinal 20μM R07 exp399]]|-2.03|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|-1.96|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|-1.96|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|-1.95|
|[[:results:exp3|Actinomycin-D 0.001μM R00 exp3]]|-1.89|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|-1.89|
|[[:results:exp321|ABT-702 5μM plus Deferoxamine 11μM R07 exp321]]|-1.88|
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|-1.84|
|[[:results:exp405|Tenofovir 10μM R07 exp405]]|-1.84|
|[[:results:exp291|LLY-284 2.6μM R06 exp291]]|-1.83|
|[[:results:exp443|SNS-032 15μM R08 exp443]]|-1.83|
|[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|-1.77|
|[[:results:exp502|Milciclib 2μM R08 exp502]]|-1.76|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|-1.75|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|-1.75|
|[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.74|
|[[:results:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|-1.73|
|[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.71|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.71|
|[[:results:exp292|Menadione 5μM R06 exp292]]|-1.71|
|[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|-1.71|
|[[:results:exp67|BVD-523 15μM R02 exp67]]|-1.7|
|[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|1.77|
|[[:results:exp365|I-BRD9 4μM R07 exp365]]|1.8|
|[[:results:exp475|CyclicAMP 200μM R08 exp475]]|1.96|
|[[:results:exp351|Dexamethasone 0.006μM R07 exp351]]|1.98|
|[[:results:exp189|Temozolomide 200μM R04 exp189]]|2.3|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|2.32|
|[[:results:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|2.49|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|2.87|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|3.24|
|[[:results:exp485|GSK626616 14μM R08 exp485]]|3.27|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|3.44|
|[[:results:exp352|Dexamethasone 0.006 to 0.015μM on day4 R07 exp352]]|4.82|
|[[:results:exp504|MK2206 4μM R08 exp504]]|8.24|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:t:tsc2|TSC2]]|0.826|
|[[:human genes:n:nprl3|NPRL3]]|0.627|
|[[:human genes:n:nprl2|NPRL2]]|0.626|
|[[:human genes:d:depdc5|DEPDC5]]|0.573|
|[[:human genes:i:itfg2|ITFG2]]|0.54|
|[[:human genes:c:c12orf66|C12orf66]]|0.517|
|[[:human genes:s:szt2|SZT2]]|0.512|
|[[:human genes:k:kptn|KPTN]]|0.491|
|[[:human genes:t:tbc1d7|TBC1D7]]|0.473|
|[[:human genes:f:fam122a|FAM122A]]|0.457|
|[[:human genes:s:sesn2|SESN2]]|0.438|
|[[:human genes:g:gps2|GPS2]]|0.413|
|[[:human genes:g:gsk3b|GSK3B]]|0.407|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 4/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|1/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4709
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.04 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TSC1 Expression in NALM6 Cells: 7.04'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>