TERT - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ATPAF2	ATP synthase mitochondrial F1 complex assembly factor 2			Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
Novel	EXOC3	exocyst complex component 3	Translocation of SLC2A4 (GLUT4) to the plasma membrane Insulin processing VxPx cargo-targeting to cilium
Novel	HMGB2	high mobility group box 2	Apoptosis induced DNA fragmentation
Novel	ICE1	interactor of little elongation complex ELL subunit 1	RNA polymerase II transcribes snRNA genes RNA polymerase II transcribes snRNA genes
Novel	IFT57	intraflagellar transport 57	Hedgehog 'off' state Intraflagellar transport Intraflagellar transport
Novel	IRS1	insulin receptor substrate 1	PI3K Cascade IRS-mediated signalling SOS-mediated signalling SOS-mediated signalling PIP3 activates AKT signaling Interleukin-7 signaling PI3K/AKT activation PI3K/AKT activation Constitutive Signaling by Aberrant PI3K in Cancer IRS-related events triggered by IGF1R Signaling by Leptin RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling IRS activation Signal attenuation Activated NTRK3 signals through PI3K Growth hormone receptor signaling	[4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
Novel	NDUFS6	NADH:ubiquinone oxidoreductase subunit S6	Respiratory electron transport Complex I biogenesis	NADH	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
Novel	PDCD6	programmed cell death 6		Calcium Zinc Calcium citrate Calcium Phosphate Calcium phosphate dihydrate Zinc acetate
Novel	PTMA	prothymosin alpha
	ABL1	ABL proto-oncogene 1, non-receptor tyrosine kinase	Regulation of actin dynamics for phagocytic cup formation Role of ABL in ROBO-SLIT signaling Role of ABL in ROBO-SLIT signaling Myogenesis Myogenesis RHO GTPases Activate WASPs and WAVEs HDR through Single Strand Annealing (SSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Cyclin D associated events in G1 RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX2 regulates osteoblast differentiation FCGR3A-mediated phagocytosis Factors involved in megakaryocyte development and platelet production	ATP Imatinib Dasatinib N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide Nilotinib XL228 Bosutinib 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA Myristic acid PD-166326 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide Regorafenib Ponatinib Fostamatinib Brigatinib Radotinib	Chronic myeloid leukemia (CML) Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
	ACAA2	acetyl-CoA acyltransferase 2	Mitochondrial Fatty Acid Beta-Oxidation
	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
	ANXA2	annexin A2	Smooth Muscle Contraction Neutrophil degranulation Dissolution of Fibrin Clot Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	Tenecteplase Fluocinolone acetonide Lanoteplase Artenimol
	ATP5F1B	ATP synthase F1 subunit beta	Mitochondrial protein import Mitochondrial protein import Formation of ATP by chemiosmotic coupling Transcriptional activation of mitochondrial biogenesis Cristae formation	Quercetin 1-ACETYL-2-CARBOXYPIPERIDINE AUROVERTIN B Piceatannol N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Phenethyl Isothiocyanate
	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
	BRAF	B-Raf proto-oncogene, serine/threonine kinase	Spry regulation of FGF signaling Frs2-mediated activation Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway 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	Sorafenib XL281 RAF-265 PLX-4720 N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide (1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime Vemurafenib Regorafenib Dabrafenib Encorafenib Fostamatinib Ripretinib	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) Thyroid cancer Malignant melanoma
	CBLC	Cbl proto-oncogene C
	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
	CCNE1	cyclin E1	G0 and Early G1 SCF(Skp2)-mediated degradation of p27/p21 DNA Damage/Telomere Stress Induced Senescence Association of TriC/CCT with target proteins during biosynthesis TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest CDK-mediated phosphorylation and removal of Cdc6 Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes Cyclin E associated events during G1/S transition G1/S-Specific Transcription Cyclin D associated events in G1 p53-Dependent G1 DNA Damage Response PTK6 Regulates Cell Cycle Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) RHOBTB3 ATPase cycle		Laryngeal cancer Gastric cancer
	CCT5	chaperonin containing TCP1 subunit 5	Prefoldin mediated transfer of substrate to CCT/TriC Formation of tubulin folding intermediates by CCT/TriC Folding of actin by CCT/TriC Association of TriC/CCT with target proteins during biosynthesis Association of TriC/CCT with target proteins during biosynthesis BBSome-mediated cargo-targeting to cilium Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

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