Details for: TSC1

Gene ID: 7248

Symbol: TSC1

Ensembl ID: ENSG00000165699

Description: TSC complex subunit 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 213.9892
    Cell Significance Index: -33.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.6809
    Cell Significance Index: -33.4000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 71.5386
    Cell Significance Index: -33.7800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 27.3854
    Cell Significance Index: -33.7700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.1171
    Cell Significance Index: -32.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.9204
    Cell Significance Index: -30.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.6872
    Cell Significance Index: -34.2800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.5704
    Cell Significance Index: -14.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8658
    Cell Significance Index: 374.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1968
    Cell Significance Index: 429.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9452
    Cell Significance Index: 187.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8834
    Cell Significance Index: 40.0400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8475
    Cell Significance Index: 52.0900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7747
    Cell Significance Index: 18.5800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7279
    Cell Significance Index: 503.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7224
    Cell Significance Index: 8.9600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7173
    Cell Significance Index: 116.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.6763
    Cell Significance Index: 37.9500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6728
    Cell Significance Index: 29.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6705
    Cell Significance Index: 25.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6596
    Cell Significance Index: 595.5800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5426
    Cell Significance Index: 41.6400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4746
    Cell Significance Index: 85.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4082
    Cell Significance Index: 5.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3979
    Cell Significance Index: 11.1200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3896
    Cell Significance Index: 11.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3643
    Cell Significance Index: 44.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3386
    Cell Significance Index: 7.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3278
    Cell Significance Index: 17.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2754
    Cell Significance Index: 18.5200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2447
    Cell Significance Index: 4.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2217
    Cell Significance Index: 26.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.2109
    Cell Significance Index: 131.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2032
    Cell Significance Index: 27.9000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2007
    Cell Significance Index: 19.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1878
    Cell Significance Index: 35.7400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1341
    Cell Significance Index: 3.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1225
    Cell Significance Index: 230.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1158
    Cell Significance Index: 5.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1015
    Cell Significance Index: 55.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1010
    Cell Significance Index: 1.7300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0970
    Cell Significance Index: 42.8700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0801
    Cell Significance Index: 108.8900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0774
    Cell Significance Index: 2.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0585
    Cell Significance Index: 37.1500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0584
    Cell Significance Index: 107.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0514
    Cell Significance Index: 3.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0513
    Cell Significance Index: 78.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0496
    Cell Significance Index: 3.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0344
    Cell Significance Index: 5.8800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0202
    Cell Significance Index: 0.5100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0067
    Cell Significance Index: 3.0200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0032
    Cell Significance Index: 0.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0128
    Cell Significance Index: -9.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0156
    Cell Significance Index: -11.4500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0226
    Cell Significance Index: -3.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0377
    Cell Significance Index: -28.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0420
    Cell Significance Index: -23.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0490
    Cell Significance Index: -5.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0708
    Cell Significance Index: -4.5700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0808
    Cell Significance Index: -2.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0945
    Cell Significance Index: -27.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0978
    Cell Significance Index: -20.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1021
    Cell Significance Index: -2.7400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1104
    Cell Significance Index: -12.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1296
    Cell Significance Index: -13.2400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1357
    Cell Significance Index: -17.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1673
    Cell Significance Index: -4.3000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2038
    Cell Significance Index: -15.1900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2068
    Cell Significance Index: -23.6100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2075
    Cell Significance Index: -4.4200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2082
    Cell Significance Index: -10.9300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2103
    Cell Significance Index: -4.5000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2114
    Cell Significance Index: -9.9400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2116
    Cell Significance Index: -3.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2206
    Cell Significance Index: -4.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2690
    Cell Significance Index: -5.7100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2742
    Cell Significance Index: -28.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2800
    Cell Significance Index: -19.8100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3145
    Cell Significance Index: -4.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3444
    Cell Significance Index: -27.2800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4026
    Cell Significance Index: -5.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4134
    Cell Significance Index: -11.8500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4556
    Cell Significance Index: -12.4000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4860
    Cell Significance Index: -9.6100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4914
    Cell Significance Index: -15.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5156
    Cell Significance Index: -16.8800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5166
    Cell Significance Index: -26.9100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5379
    Cell Significance Index: -10.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5467
    Cell Significance Index: -33.5200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5467
    Cell Significance Index: -6.9000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5608
    Cell Significance Index: -17.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5717
    Cell Significance Index: -19.8700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5739
    Cell Significance Index: -15.0900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.5926
    Cell Significance Index: -8.5100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6183
    Cell Significance Index: -7.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6286
    Cell Significance Index: -10.5200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6327
    Cell Significance Index: -16.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6797
    Cell Significance Index: -23.8100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7352
    Cell Significance Index: -26.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The TSC1 gene encodes a protein that is part of the TSC complex, which is composed of two subunits: TSC1 and TSC2. The TSC complex is a negative regulator of the mTOR pathway, which is a key signaling pathway involved in cell growth, proliferation, and metabolism. The TSC complex inhibits the activity of the mTOR kinase, which in turn regulates the activity of downstream targets, including S6K1 and 4E-BP1. The TSC1 gene is highly conserved across species, suggesting its importance in maintaining cellular homeostasis. **Pathways and Functions** The TSC1 gene is involved in several key cellular pathways, including: 1. **mTOR signaling**: The TSC complex is a negative regulator of the mTOR pathway, which is involved in cell growth, proliferation, and metabolism. 2. **Autophagy**: The TSC complex is also involved in regulating autophagy, a process by which cells recycle damaged or dysfunctional cellular components. 3. **Cell cycle regulation**: The TSC complex regulates the cell cycle by inhibiting the activity of the mTOR kinase. 4. **Neurotransmitter signaling**: The TSC1 gene is highly expressed in neurons, particularly in GABAergic cortical interneurons, and is involved in regulating neurotransmitter signaling. 5. **Stress response**: The TSC complex is involved in regulating the cellular response to stress, including heat shock and oxidative stress. **Clinical Significance** Dysregulation of the TSC1 gene has been implicated in several human cancers, including: 1. **Renal cell carcinoma**: Mutations in the TSC1 gene have been identified in a subset of renal cell carcinomas. 2. **Pancreatic cancer**: The TSC1 gene is frequently mutated in pancreatic cancer, particularly in the context of the TP53 gene. 3. **Lymphangioleiomyomatosis (LAM)**: Mutations in the TSC1 gene have been identified in LAM, a rare lung disease characterized by the growth of benign tumors in the lungs. 4. **Neurological disorders**: The TSC1 gene is also implicated in various neurological disorders, including epilepsy, schizophrenia, and cortical dysplasia. In summary, the TSC1 gene plays a critical role in regulating cell growth, metabolism, and proliferation, and its dysregulation has been implicated in several human cancers and neurological disorders. Further studies are needed to fully understand the mechanisms by which the TSC1 gene regulates cellular processes and to develop effective therapeutic strategies for treating TSC-related diseases.

Genular Protein ID: 1694337596

Symbol: TSC1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q92574 B7Z897 Q5VVN5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 CarbonylDB 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 7 EMDB 4 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 54 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 8 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9242607

Title: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

PubMed ID: 9242607

DOI: 10.1126/science.277.5327.805

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 9039502

Title: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

PubMed ID: 9039502

DOI: 10.1093/dnares/3.5.321

PubMed ID: 9809973

Title: Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

PubMed ID: 9809973

PubMed ID: 9580671

Title: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

PubMed ID: 9580671

DOI: 10.1093/hmg/7.6.1053

PubMed ID: 10585443

Title: Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.

PubMed ID: 10585443

DOI: 10.1074/jbc.274.50.35647

PubMed ID: 12172553

Title: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.

PubMed ID: 12172553

DOI: 10.1038/ncb839

PubMed ID: 12906785

Title: Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.

PubMed ID: 12906785

DOI: 10.1016/s0960-9822(03)00506-2

PubMed ID: 11829138

Title: Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

PubMed ID: 11829138

DOI: 10.1007/s10038-002-8651-8

PubMed ID: 12271141

Title: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PubMed ID: 12271141

DOI: 10.1073/pnas.202476899

PubMed ID: 15340059

Title: Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PubMed ID: 15340059

DOI: 10.1128/mcb.24.18.7965-7975.2004

PubMed ID: 15963462

Title: Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PubMed ID: 15963462

DOI: 10.1016/j.bbrc.2005.05.175

PubMed ID: 16464865

Title: TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.

PubMed ID: 16464865

DOI: 10.1074/jbc.c500451200

PubMed ID: 17658474

Title: Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex.

PubMed ID: 17658474

DOI: 10.1016/j.bbrc.2007.07.011

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18381890

Title: WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.

PubMed ID: 18381890

DOI: 10.1101/gad.1624008

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22795129

Title: TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.

PubMed ID: 22795129

DOI: 10.1016/j.molcel.2012.06.009

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24529379

Title: Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.

PubMed ID: 24529379

DOI: 10.1016/j.cell.2013.11.049

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28215400

Title: Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia.

PubMed ID: 28215400

DOI: 10.1016/j.ajhg.2017.01.030

PubMed ID: 29127155

Title: Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.

PubMed ID: 29127155

DOI: 10.15252/embj.201796700

PubMed ID: 28561026

Title: R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.

PubMed ID: 28561026

DOI: 10.1038/ncomms15615

PubMed ID: 28561066

Title: WIPI3 and WIPI4 beta-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.

PubMed ID: 28561066

DOI: 10.1038/ncomms15637

PubMed ID: 33215753

Title: The E3 ubiquitin ligase Peli1 regulates the metabolic actions of mTORC1 to suppress antitumor T cell responses.

PubMed ID: 33215753

DOI: 10.15252/embj.2020104532

PubMed ID: 26893383

Title: Structural basis of the interaction between tuberous sclerosis complex 1 (TSC1) and Tre2-Bub2-Cdc16 domain family member 7 (TBC1D7).

PubMed ID: 26893383

DOI: 10.1074/jbc.m115.701870

PubMed ID: 33436626

Title: Structural insights into TSC complex assembly and GAP activity on Rheb.

PubMed ID: 33436626

DOI: 10.1038/s41467-020-20522-4

PubMed ID: 9328481

Title: Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

PubMed ID: 9328481

DOI: 10.1093/hmg/6.12.2155

PubMed ID: 9924605

Title: Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

PubMed ID: 9924605

DOI: 10.1046/j.1469-1809.1998.6240277.x

PubMed ID: 10533069

Title: Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.

PubMed ID: 10533069

DOI: 10.1002/(sici)1098-1004(199911)14:5<428::aid-humu9>3.0.co;2-5

PubMed ID: 10533067

Title: Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PubMed ID: 10533067

DOI: 10.1002/(sici)1098-1004(199911)14:5<412::aid-humu7>3.0.co;2-k

PubMed ID: 10570911

Title: Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PubMed ID: 10570911

DOI: 10.1007/s100380050185

PubMed ID: 10227394

Title: Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

PubMed ID: 10227394

PubMed ID: 10607950

Title: Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PubMed ID: 10607950

DOI: 10.1002/(sici)1096-8628(20000117)90:2<123::aid-ajmg7>3.3.co;2-c

PubMed ID: 10874311

Title: Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.

PubMed ID: 10874311

DOI: 10.1002/1098-1004(200007)16:1<88::aid-humu15>3.0.co;2-j

PubMed ID: 12112044

Title: Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

PubMed ID: 12112044

DOI: 10.1002/ana.10251

PubMed ID: 18397877

Title: Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

PubMed ID: 18397877

DOI: 10.1093/hmg/ddn098

PubMed ID: 18830229

Title: Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

PubMed ID: 18830229

DOI: 10.1038/ejhg.2008.170

PubMed ID: 22161988

Title: Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

PubMed ID: 22161988

DOI: 10.1002/humu.22007

Sequence Information:

  • Length: 1164
  • Mass: 129767
  • Checksum: EF15509385C7AACC
  • Sequence:
    • MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL ETSSQPALHI 
LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ PSWKHKLSQA PLLPSLLKCL 
KMDTDVVVLT TGVLVLITML PMIPQSGKQH LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL 
HASVYALFHR LYGMYPCNFV SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH 
ELDPRRWKRL ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS MVCGMTTPPT 
SPGNVPPDLS HPYSKVFGTT AGGKGTPLGT PATSPPPAPL CHSDDYVHIS LPQATVTPPR 
KEERMDSARP CLHRQHHLLN DRGSEEPPGS KGSVTLSDLP GFLGDLASEE DSIEKDKEEA 
AISRELSEIT TAEAEPVVPR GGFDSPFYRD SLPGSQRKTH SAASSSQGAS VNPEPLHSSL 
DKLGPDTPKQ AFTPIDLPCG SADESPAGDR ECQTSLETSI FTPSPCKIPP PTRVGFGSGQ 
PPPYDHLFEV ALPKTAHHFV IRKTEELLKK AKGNTEEDGV PSTSPMEVLD RLIQQGADAH 
SKELNKLPLP SKSVDWTHFG GSPPSDEIRT LRDQLLLLHN QLLYERFKRQ QHALRNRRLL 
RKVIKAAALE EHNAAMKDQL KLQEKDIQMW KVSLQKEQAR YNQLQEQRDT MVTKLHSQIR 
QLQHDREEFY NQSQELQTKL EDCRNMIAEL RIELKKANNK VCHTELLLSQ VSQKLSNSES 
VQQQMEFLNR QLLVLGEVNE LYLEQLQNKH SDTTKEVEMM KAAYRKELEK NRSHVLQQTQ 
RLDTSQKRIL ELESHLAKKD HLLLEQKKYL EDVKLQARGQ LQAAESRYEA QKRITQVFEL 
EILDLYGRLE KDGLLKKLEE EKAEAAEAAE ERLDCCNDGC SDSMVGHNEE ASGHNGETKT 
PRPSSARGSS GSRGGGGSSS SSSELSTPEK PPHQRAGPFS SRWETTMGEA SASIPTTVGS 
LPSSKSFLGM KARELFRNKS ESQCDEDGMT SSLSESLKTE LGKDLGVEAK IPLNLDGPHP 
SPPTPDSVGQ LHIMDYNETH HEHS

Genular Protein ID: 760097973

Symbol: Q32NF0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q32NF0

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 477
  • Mass: 52918
  • Checksum: 1127DFDEA20B1739
  • Sequence:
    • MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL ETSSQPALHI 
LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ PSWKHKLSQA PLLPSLLKCL 
KMDTDVVVLT TGVLVLITML PMIPQSGKQH LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL 
HASVYALFHR LYGMYPCNFV SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH 
ELDPRRWKRL ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS MVCGMTTPPT 
SPGNVPPDLS HPYSKVFGTT GGKGTPLGTP ATSPPPAPLC HSDDYVHISL PQATVTPPRK 
EERMDSARPC LHRQHHLLND RGSEEPPGSK GSVTLSDLPG FLGDLASEED SIEKKKK

Genular Protein ID: 1638830449

Symbol: Q86WV8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86WV8

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 GeneTree 1 HGNC 1 HOGENOM 1 IntAct 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 366
  • Mass: 41155
  • Checksum: 9DBE1D9A25B83618
  • Sequence:
    • MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL ETSSQPALHI 
LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ PSWKHKLSQA PLLPSLLKCL 
KMDTDVVVLT TGVLVLITML PMIPQSGKQH LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL 
HASVYALFHR LYGMYPCNFV SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH 
ELDPRRWKRL ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQVWCQLVC LLSPLLSGEA 
DPLGQI

Genular Protein ID: 1721980015

Symbol: A0A2R8Y5S3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y5S3 A0A2R8YGL0

Database IDs:

Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 4 GO 2 GeneTree 1 HGNC 1 InterPro 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 1163
  • Mass: 129696
  • Checksum: 3751F8FAA7E5D9B5
  • Sequence:
    • MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL ETSSQPALHI 
LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ PSWKHKLSQA PLLPSLLKCL 
KMDTDVVVLT TGVLVLITML PMIPQSGKQH LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL 
HASVYALFHR LYGMYPCNFV SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH 
ELDPRRWKRL ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS MVCGMTTPPT 
SPGNVPPDLS HPYSKVFGTT GGKGTPLGTP ATSPPPAPLC HSDDYVHISL PQATVTPPRK 
EERMDSARPC LHRQHHLLND RGSEEPPGSK GSVTLSDLPG FLGDLASEED SIEKDKEEAA 
ISRELSEITT AEAEPVVPRG GFDSPFYRDS LPGSQRKTHS AASSSQGASV NPEPLHSSLD 
KLGPDTPKQA FTPIDLPCGS ADESPAGDRE CQTSLETSIF TPSPCKIPPP TRVGFGSGQP 
PPYDHLFEVA LPKTAHHFVI RKTEELLKKA KGNTEEDGVP STSPMEVLDR LIQQGADAHS 
KELNKLPLPS KSVDWTHFGG SPPSDEIRTL RDQLLLLHNQ LLYERFKRQQ HALRNRRLLR 
KVIKAAALEE HNAAMKDQLK LQEKDIQMWK VSLQKEQARY NQLQEQRDTM VTKLHSQIRQ 
LQHDREEFYN QSQELQTKLE DCRNMIAELR IELKKANNKV CHTELLLSQV SQKLSNSESV 
QQQMEFLNRQ LLVLGEVNEL YLEQLQNKHS DTTKEVEMMK AAYRKELEKN RSHVLQQTQR 
LDTSQKRILE LESHLAKKDH LLLEQKKYLE DVKLQARGQL QAAESRYEAQ KRITQVFELE 
ILDLYGRLEK DGLLKKLEEE KAEAAEAAEE RLDCCNDGCS DSMVGHNEEA SGHNGETKTP 
RPSSARGSSG SRGGGGSSSS SSELSTPEKP PHQRAGPFSS RWETTMGEAS ASIPTTVGSL 
PSSKSFLGMK ARELFRNKSE SQCDEDGMTS SLSESLKTEL GKDLGVEAKI PLNLDGPHPS 
PPTPDSVGQL HIMDYNETHH EHS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.