TSC1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
AKT1	AKT serine/threonine kinase 1	Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling Translocation of SLC2A4 (GLUT4) to the plasma membrane Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation MTOR signalling AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network eNOS activation AKT-mediated inactivation of FOXO1A Integrin signaling Deactivation of the beta-catenin transactivating complex CD28 dependent PI3K/Akt signaling CTLA4 inhibitory signaling G beta:gamma signalling through PI3Kgamma Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Interleukin-4 and Interleukin-13 signaling Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity Extra-nuclear estrogen signaling Negative regulation of NOTCH4 signaling FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling	ATP Arsenic trioxide Genistein Inositol 1,3,4,5-Tetrakisphosphate Resveratrol Archexin Enzastaurin Perifosine N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine	PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
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)
ATXN1	ataxin 1			Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
CCND2	cyclin D2	Cyclin D associated events in G1 Regulation of RUNX1 Expression and Activity Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)		Testicular cancer
GLIS2	GLIS family zinc finger 2			Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2)
LMO2	LIM domain only 2	RUNX1 regulates transcription of genes involved in differentiation of HSCs		Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
NEFL	neurofilament light	Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation		Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
PITX1	paired like homeodomain 1			Congenital clubfoot; Congenital talipes equinovarus
TCF7L2	transcription factor 7 like 2	Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Binding of TCF/LEF:CTNNB1 to target gene promoters Repression of WNT target genes Repression of WNT target genes Signaling by TCF7L2 mutants Transcriptional Regulation by VENTX RUNX3 regulates WNT signaling		Type II diabetes mellitus
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)
APPL2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
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
ARID5A	AT-rich interaction domain 5A
AURKA	aurora kinase A	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Regulation of PLK1 Activity at G2/M Transition SUMOylation of DNA replication proteins TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Regulation of TP53 Activity through Phosphorylation FBXL7 down-regulates AURKA during mitotic entry and in early mitosis AURKA Activation by TPX2 Interaction between PHLDA1 and AURKA	Phosphonothreonine AT9283 CYC116 Alisertib SNS-314 Cenisertib Enzastaurin 4-(4-METHYLPIPERAZIN-1-YL)-N-[5-(2-THIENYLACETYL)-1,5-DIHYDROPYRROLO[3,4-C]PYRAZOL-3-YL]BENZAMIDE AKI-001 1-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)ethyl]-1,3-thiazol-2-yl}-3-[3-(trifluoromethyl)phenyl]urea 1-(5-{2-[(1-methyl-1H-pyrazolo[4,3-d]pyrimidin-7-yl)amino]ethyl}-1,3-thiazol-2-yl)-3-[3-(trifluoromethyl)phenyl]urea N-{3-[(4-{[3-(TRIFLUOROMETHYL)PHENYL]AMINO}PYRIMIDIN-2-YL)AMINO]PHENYL}CYCLOPROPANECARBOXAMIDE N-butyl-3-{[6-(9H-purin-6-ylamino)hexanoyl]amino}benzamide 2-(1H-pyrazol-3-yl)-1H-benzimidazole N-[3-(1H-BENZIMIDAZOL-2-YL)-1H-PYRAZOL-4-YL]BENZAMIDE Fostamatinib MLN8054
BAG3	BAG cochaperone 3	Regulation of HSF1-mediated heat shock response
BECN1	beclin 1	Macroautophagy Ub-specific processing proteases Translation of Replicase and Assembly of the Replication Transcription Complex Translation of Replicase and Assembly of the Replication Transcription Complex	Estradiol Estradiol acetate Estradiol benzoate Estradiol cypionate Estradiol dienanthate Estradiol valerate
C1orf94	chromosome 1 open reading frame 94
CCDC120	coiled-coil domain containing 120
CCL28	C-C motif chemokine ligand 28	Chemokine receptors bind chemokines G alpha (i) signalling events
CCNB1	cyclin B1	E2F-enabled inhibition of pre-replication complex formation Polo-like kinase mediated events Golgi Cisternae Pericentriolar Stack Reorganization APC/C:Cdc20 mediated degradation of Cyclin B Regulation of APC/C activators between G1/S and early anaphase Phosphorylation of the APC/C Phosphorylation of Emi1 Condensation of Prophase Chromosomes MASTL Facilitates Mitotic Progression Resolution of Sister Chromatid Cohesion Condensation of Prometaphase Chromosomes Regulation of PLK1 Activity at G2/M Transition Activation of NIMA Kinases NEK9, NEK6, NEK7 Initiation of Nuclear Envelope (NE) Reformation Nuclear Pore Complex (NPC) Disassembly Depolymerisation of the Nuclear Lamina TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Mitotic Prophase Cyclin A/B1/B2 associated events during G2/M transition G2/M DNA replication checkpoint Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex The role of GTSE1 in G2/M progression after G2 checkpoint Transcriptional regulation by RUNX2

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