TERT - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	TIMM21	translocase of inner mitochondrial membrane 21	Mitochondrial protein import Complex IV assembly
Novel	TPP1	tripeptidyl peptidase 1	XBP1(S) activates chaperone genes		Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD) Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10)
Novel	TUBA1B	tubulin alpha 1b	Translocation of SLC2A4 (GLUT4) to the plasma membrane Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Recruitment of NuMA to mitotic centrosomes Formation of tubulin folding intermediates by CCT/TriC Post-chaperonin tubulin folding pathway Recycling pathway of L1 Recycling pathway of L1 Hedgehog 'off' state Cargo trafficking to the periciliary membrane Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin Carboxyterminal post-translational modifications of tubulin RHOH GTPase cycle HCMV Early Events Assembly and cell surface presentation of NMDA receptors Activation of AMPK downstream of NMDARs Aggrephagy Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins PKR-mediated signaling	Epothilone D Patupilone CYT997 2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE
Novel	U2SURP	U2 snRNP associated SURP domain containing	mRNA Splicing - Major Pathway
Novel	USP7	ubiquitin specific peptidase 7	Ub-specific processing proteases Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Regulation of TP53 Degradation Synthesis of active ubiquitin: roles of E1 and E2 enzymes Regulation of PTEN localization
Novel	XPO1	exportin 1	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Rev-mediated nuclear export of HIV RNA NEP/NS2 Interacts with the Cellular Export Machinery Downregulation of TGF-beta receptor signaling Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion Deactivation of the beta-catenin transactivating complex HuR (ELAVL1) binds and stabilizes mRNA RHO GTPases Activate Formins MAPK6/MAPK4 signaling Mitotic Prometaphase Cyclin A/B1/B2 associated events during G2/M transition Estrogen-dependent nuclear events downstream of ESR-membrane signaling EML4 and NUDC in mitotic spindle formation Heme signaling NPAS4 regulates expression of target genes Maturation of hRSV A proteins Transcriptional and post-translational regulation of MITF-M expression and activity	Selinexor
Novel	XRCC5	X-ray repair cross complementing 5	2-LTR circle formation Cytosolic sensors of pathogen-associated DNA IRF3-mediated induction of type I IFN Nonhomologous End-Joining (NHEJ) Neutrophil degranulation
Novel	XRCC6	X-ray repair cross complementing 6	2-LTR circle formation Cytosolic sensors of pathogen-associated DNA IRF3-mediated induction of type I IFN Nonhomologous End-Joining (NHEJ) Neutrophil degranulation
Novel	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 SARS-CoV-1 targets host intracellular signalling and regulatory pathways SARS-CoV-2 targets host intracellular signalling and regulatory pathways	Phenethyl Isothiocyanate
Novel	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 SARS-CoV-1 targets host intracellular signalling and regulatory pathways SARS-CoV-2 targets host intracellular signalling and regulatory pathways Transcriptional and post-translational regulation of MITF-M expression and activity	Phenethyl Isothiocyanate
	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 MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells	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 Asciminib Umbralisib	Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Chronic myeloid leukemia (CML)
	ACAA2	acetyl-CoA acyltransferase 2	Mitochondrial Fatty Acid Beta-Oxidation	Trimetazidine
	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 Co-inhibition by CTLA4 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 KEAP1-NFE2L2 pathway SARS-CoV-2 targets host intracellular signalling and regulatory pathways Mitochondrial unfolded protein response (UPRmt) High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Mechanical load activates signaling by PIEZO1 and integrins in osteocytes	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 Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Developmental Lineage of Pancreatic Ductal Cells	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 Mitochondrial protein degradation	Quercetin 1-ACETYL-2-CARBOXYPIPERIDINE AUROVERTIN B Piceatannol N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Phenethyl Isothiocyanate
	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
	BECN1	beclin 1	ISG15 antiviral mechanism 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 SARS-CoV-2 activates/modulates innate and adaptive immune responses Antigen Presentation: Folding, assembly and peptide loading of class I MHC RSV-host interactions	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 RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants SHOC2 M1731 mutant abolishes MRAS complex function Gain-of-function MRAS complexes activate RAF signaling	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	Malignant melanoma 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
	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) Drug-mediated inhibition of CDK4/CDK6 activity		Testicular cancer

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