TSC1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
FGFR4	fibroblast growth factor receptor 4	PI3K Cascade PIP3 activates AKT signaling betaKlotho-mediated ligand binding FGFR4 mutant receptor activation FGFR4 ligand binding and activation Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade; FGFR4 FRS-mediated FGFR4 signaling SHC-mediated cascade:FGFR4 PI-3K cascade:FGFR4 Negative regulation of FGFR4 signaling Signaling by FGFR4 in disease RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	Heparin Ponatinib Lenvatinib Erdafitinib Pemigatinib
AQP1	aquaporin 1 (Colton blood group)	Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Vasopressin regulates renal water homeostasis via Aquaporins Passive transport by Aquaporins	Acetazolamide B-nonylglucoside Mersalyl
MYC	MYC proto-oncogene, bHLH transcription factor	Transcription of E2F targets under negative control by DREAM complex NOTCH1 Intracellular Domain Regulates Transcription SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Binding of TCF/LEF:CTNNB1 to target gene promoters MAPK6/MAPK4 signaling Ub-specific processing proteases Interleukin-4 and Interleukin-13 signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry TFAP2 (AP-2) family regulates transcription of cell cycle factors RUNX3 regulates WNT signaling Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis	Acetylsalicylic acid Nadroparin	Choriocarcinoma Penile cancer Burkitt lymphoma Oral cancer Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Multiple myeloma Small cell lung cancer Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Osteosarcoma Kaposi's sarcoma Laryngeal cancer Breast cancer Ovarian cancer
RHEB	Ras homolog, mTORC1 binding	Macroautophagy MTOR signalling mTORC1-mediated signalling Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes Regulation of PTEN gene transcription Amino acids regulate mTORC1	Guanosine-5'-Triphosphate Guanosine-5'-Diphosphate
YWHAB	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane MTOR signalling mTORC1-mediated signalling Frs2-mediated activation Frs2-mediated activation ARMS-mediated activation Signaling by Hippo Rap1 signalling Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA RHO GTPases activate PKNs TP53 Regulates Metabolic Genes RAF activation MAP2K and MAPK activation Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex Regulation of localization of FOXO transcription factors Signaling downstream of RAS mutants Signaling by RAF1 mutants Signaling by MRAS-complex mutants	Copper Phenethyl Isothiocyanate
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Signaling by Hippo NADE modulates death signalling Regulation of PLK1 Activity at G2/M Transition Regulation of HSF1-mediated heat shock response HSF1 activation Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex AURKA Activation by TPX2 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RAB GEFs exchange GTP for GDP on RABs	Fusicoccin Phenethyl Isothiocyanate	Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
ARAF	A-Raf proto-oncogene, serine/threonine kinase	RAF activation MAP2K and MAPK activation Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants Signaling by MRAS-complex mutants	ATP	Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
KAT2A	lysine acetyltransferase 2A	Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants HATs acetylate histones Notch-HLH transcription pathway B-WICH complex positively regulates rRNA expression Ub-specific processing proteases RNA Polymerase I Transcription Initiation RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription	Coenzyme A
MAP2K5	mitogen-activated protein kinase kinase 5	Signalling to ERK5	Fostamatinib
PLK2	polo like kinase 2	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain CD163 mediating an anti-inflammatory response	Fostamatinib
RDX	radixin	Recycling pathway of L1 Recycling pathway of L1	1D-myo-inositol 1,4,5-trisphosphate
SUOX	sulfite oxidase	Sulfide oxidation to sulfate	{[2-Amino-4-oxo-6,7-di(sulfanyl-ÎºS)-3,5,5a,8,9a,10-hexahydro-4H-pyrano[3,2-g]pteridin-8-yl]methyl dihydrogenato(2-) phosphate}(dioxo)sulfanylmolybdenum
YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	Phenethyl Isothiocyanate
YWHAQ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex Regulation of localization of FOXO transcription factors	Phenethyl Isothiocyanate
YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Deactivation of the beta-catenin transactivating complex Rap1 signalling GP1b-IX-V activation signalling KSRP (KHSRP) binds and destabilizes mRNA Interleukin-3, Interleukin-5 and GM-CSF signaling RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex NOTCH4 Activation and Transmission of Signal to the Nucleus Negative regulation of NOTCH4 signaling Regulation of localization of FOXO transcription factors	Phenethyl Isothiocyanate
APPL2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
ARID5A	AT-rich interaction domain 5A
ATXN1	ataxin 1			Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
BAG3	BAG cochaperone 3	Regulation of HSF1-mediated heat shock response
C1orf94	chromosome 1 open reading frame 94

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