brca1 - Wiki-Pi

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide
TP53	tumor protein p53	Cellular Senescence Activation of BH3-only proteins p53-Dependent G1/S DNA damage checkpoint Oncogene Induced Senescence p53-Dependent G1 DNA Damage Response Formation of Senescence-Associated Heterochromatin Foci (SAHF) Pre-NOTCH Transcription and Translation Stabilization of p53 Transcriptional activation of p53 responsive genes Programmed Cell Death Pre-NOTCH Expression and Processing G1/S DNA Damage Checkpoints Intrinsic Pathway for Apoptosis Transcriptional activation of cell cycle inhibitor p21 DNA Damage/Telomere Stress Induced Senescence Signaling by NOTCH Factors involved in megakaryocyte development and platelet production Activation of NOXA and translocation to mitochondria Oxidative Stress Induced Senescence Autodegradation of the E3 ubiquitin ligase COP1 Activation of PUMA and translocation to mitochondria Cell Cycle Checkpoints
MYC	v-myc avian myelocytomatosis viral oncogene homolog	Loss of Function of TGFBR2 in Cancer Signaling by NOTCH1 HD Domain Mutants in Cancer Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer SMAD2/3 MH2 Domain Mutants in Cancer Signaling by Wnt Cyclin E associated events during G1/S transition binding of TCF/LEF:CTNNB1 to target gene promoters TGFBR1 LBD Mutants in Cancer SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Generic Transcription Pathway RNF mutants show enhanced WNT signaling and proliferation G1/S Transition Signaling by NOTCH1 XAV939 inhibits tankyrase, stabilizing AXIN Signaling by NOTCH1 in Cancer Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Mitotic G1-G1/S phases FBXW7 Mutants and NOTCH1 in Cancer TGFBR2 MSI Frameshift Mutants in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling Loss of Function of SMAD2/3 in Cancer Signaling by NOTCH formation of the beta-catenin:TCF transactivating complex TGFBR2 Kinase Domain Mutants in Cancer Loss of Function of SMAD4 in Cancer TGFBR1 KD Mutants in Cancer S Phase Cell Cycle, Mitotic Loss of Function of TGFBR1 in Cancer NOTCH1 Intracellular Domain Regulates Transcription Signaling by TGF-beta Receptor Complex in Cancer Signaling by TGF-beta Receptor Complex TCF dependent signaling in response to WNT Signaling by NOTCH1 PEST Domain Mutants in Cancer Cyclin A:Cdk2-associated events at S phase entry Signaling by WNT in cancer Constitutive Signaling by NOTCH1 PEST Domain Mutants SMAD4 MH2 Domain Mutants in Cancer
RB1	retinoblastoma 1	E2F mediated regulation of DNA replication DNA Damage/Telomere Stress Induced Senescence Synthesis of DNA Mitotic Prophase Cellular Senescence G1 Phase Regulation of DNA replication Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes Orc1 removal from chromatin S Phase Cyclin E associated events during G1/S transition Cell Cycle, Mitotic M Phase Orc1 removal from chromatin Cyclin D associated events in G1 Formation of Senescence-Associated Heterochromatin Foci (SAHF) G1/S Transition Removal of licensing factors from origins Cyclin A:Cdk2-associated events at S phase entry Switching of origins to a post-replicative state Mitotic G1-G1/S phases Condensation of Prophase Chromosomes Inhibition of replication initiation of damaged DNA by RB1/E2F1
CCND1	cyclin D1	Chromatin organization Signaling by NOTCH Ubiquitin-dependent degradation of Cyclin D G1 Phase S Phase Cell Cycle, Mitotic RMTs methylate histone arginines Ubiquitin-dependent degradation of Cyclin D1 Cyclin D associated events in G1 Chromatin modifying enzymes Pre-NOTCH Transcription and Translation Pre-NOTCH Expression and Processing Mitotic G1-G1/S phases	Arsenic trioxide
CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa	APC truncation mutants have impaired AXIN binding misspliced GSK3beta mutants stabilize beta-catenin T41 mutants of beta-catenin aren't phosphorylated TCF7L2 mutants don't bind CTBP truncated APC mutants destabilize the destruction complex Signaling by Wnt binding of TCF/LEF:CTNNB1 to target gene promoters deactivation of the beta-catenin transactivating complex APC truncation mutants are not K63 polyubiquitinated disassembly of the destruction complex and recruitment of AXIN to the membrane S37 mutants of beta-catenin aren't phosphorylated Degradation of beta-catenin by the destruction complex AXIN mutants destabilize the destruction complex, activating WNT signaling RNF mutants show enhanced WNT signaling and proliferation S33 mutants of beta-catenin aren't phosphorylated XAV939 inhibits tankyrase, stabilizing AXIN Innate Immune System truncations of AMER1 destabilize the destruction complex CDO in myogenesis misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling Cytosolic sensors of pathogen-associated DNA formation of the beta-catenin:TCF transactivating complex phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex AXIN missense mutants destabilize the destruction complex S45 mutants of beta-catenin aren't phosphorylated repression of WNT target genes beta-catenin independent WNT signaling deletions in the AMER1 gene destabilize the destruction complex Ca2+ pathway Myogenesis AMER1 mutants destabilize the destruction complex TCF dependent signaling in response to WNT LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling Signaling by WNT in cancer	Urea
AR	androgen receptor	Generic Transcription Pathway Nuclear Receptor transcription pathway	Levonorgestrel Spironolactone Flutamide Oxandrolone Testosterone Nilutamide Fludrocortisone Drostanolone Nandrolone phenpropionate Bicalutamide Fluoxymesterone Drospirenone Danazol Testosterone Propionate Delta1-dihydrotestosterone Boldenone Calusterone Flufenamic Acid Dihydrotestosterone (2r)-N-[4-Cyano-3-(Trifluoromethyl)Phenyl]-3-[(4-Fluorophenyl)Sulfonyl]-2-Hydroxy-2-Methylpropanamide Methyltrienolone (3AALPHA,4ALPHA,7ALPHA,7AALPHA)- 3A,4,7,7A-TETRAHYDRO-2-(4-NITRO-1-NAPHTHALENYL)-4,7-ETHANO-1H-ISOINDOLE-1,3(2H)-DIONE Cyproterone Methyltestosterone 17-HYDROXY-18A-HOMO-19-NOR-17ALPHA-PREGNA-4,9,11-TRIEN-3-ONE (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide 2-CHLORO-4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-3-METHYLBENZONITRILE (2S)-3-(4-chloro-3-fluorophenoxy)-N-[4-cyano-3-(trifluoromethyl)phenyl]-2-hydroxy-2-methylpropanamide 4-{[(1R,2S)-1,2-dihydroxy-2-methyl-3-(4-nitrophenoxy)propyl]amino}-2-(trifluoromethyl)benzonitrile (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide (2S)-3-[4-(acetylamino)phenoxy]-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE (5S,8R,9S,10S,13R,14S,17S)-13-{2-[(3,5-DIFLUOROBENZYL)OXY]ETHYL}-17-HYDROXY-10-METHYLHEXADECAHYDRO-3H-CYCLOPENTA[A]PHENANTHREN-3-ONE S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE 1-TERT-BUTYL-3-(2,5-DIMETHYLBENZYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE 4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-1-NAPHTHONITRILE 2-chloro-4-{[(1R,3Z,7S,7aS)-7-hydroxy-1-(trifluoromethyl)tetrahydro-1H-pyrrolo[1,2-c][1,3]oxazol-3-ylidene]amino}-3-methylbenzonitrile 6-[BIS(2,2,2-TRIFLUOROETHYL)AMINO]-4-(TRIFLUOROMETHYL)QUINOLIN-2(1H)-ONE 3-[(4-AMINO-1-TERT-BUTYL-1H-PYRAZOLO[3,4-D]PYRIMIDIN-3-YL)METHYL]PHENOL Nandrolone decanoate Enzalutamide
ATM	ATM serine/threonine kinase	Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Fanconi Anemia pathway G2/M Checkpoints Cellular Senescence p53-Dependent G1/S DNA damage checkpoint p53-Dependent G1 DNA Damage Response Regulation of the Fanconi anemia pathway Stabilization of p53 p53-Independent DNA Damage Response Homologous recombination repair of replication-independent double-strand breaks p53-Independent G1/S DNA damage checkpoint Double-Strand Break Repair G1/S DNA Damage Checkpoints ATM mediated phosphorylation of repair proteins DNA Damage/Telomere Stress Induced Senescence Meiotic recombination ATM mediated response to DNA double-strand break G2/M DNA damage checkpoint Regulation of HSF1-mediated heat shock response Cellular response to heat stress Autodegradation of the E3 ubiquitin ligase COP1 Homologous Recombination Repair Recruitment of repair and signaling proteins to double-strand breaks Cell Cycle Checkpoints
BRCA2	breast cancer 2, early onset	Homologous DNA pairing and strand exchange Meiotic recombination Fanconi Anemia pathway Homologous Recombination Repair Homologous recombination repair of replication-independent double-strand breaks Double-Strand Break Repair Presynaptic phase of homologous DNA pairing and strand exchange
DES	desmin	Striated Muscle Contraction
MLH1	mutL homolog 1	Meiotic recombination Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch Repair
SMAD4	SMAD family member 4	Loss of Function of TGFBR2 in Cancer SMAD2/3 MH2 Domain Mutants in Cancer TGF-beta receptor signaling activates SMADs TGFBR1 LBD Mutants in Cancer Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Signaling by BMP Transcriptional regulation of pluripotent stem cells Generic Transcription Pathway Signaling by NODAL TGFBR2 MSI Frameshift Mutants in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer Loss of Function of SMAD2/3 in Cancer Signaling by Activin TGFBR2 Kinase Domain Mutants in Cancer Loss of Function of SMAD4 in Cancer TGFBR1 KD Mutants in Cancer Loss of Function of TGFBR1 in Cancer Signaling by TGF-beta Receptor Complex in Cancer Signaling by TGF-beta Receptor Complex SMAD4 MH2 Domain Mutants in Cancer
CDK4	cyclin-dependent kinase 4	Meiotic recombination Chromatin organization Ubiquitin-dependent degradation of Cyclin D Cellular Senescence G1 Phase Senescence-Associated Secretory Phenotype (SASP) S Phase Oncogene Induced Senescence Cell Cycle, Mitotic Ubiquitin-dependent degradation of Cyclin D1 RMTs methylate histone arginines Cyclin D associated events in G1 Chromatin modifying enzymes Oxidative Stress Induced Senescence Transcriptional regulation of white adipocyte differentiation Mitotic G1-G1/S phases
COL1A1	collagen, type I, alpha 1	Platelet Adhesion to exposed collagen Collagen formation Collagen degradation Anchoring fibril formation Non-integrin membrane-ECM interactions Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures Cell surface interactions at the vascular wall Syndecan interactions Crosslinking of collagen fibrils ECM proteoglycans GPVI-mediated activation cascade Integrin cell surface interactions Collagen biosynthesis and modifying enzymes Platelet activation, signaling and aggregation Scavenging by Class A Receptors	Collagenase
ERCC6	excision repair cross-complementation group 6	Nucleotide Excision Repair RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription Transcription-coupled NER (TC-NER) RNA Polymerase I Transcription RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Clearance Formation of transcription-coupled NER (TC-NER) repair complex Dual incision reaction in TC-NER
MSH2	mutS homolog 2	Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch Repair
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PSAP	prosaposin	Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Signaling by GPCR Sphingolipid metabolism Metabolism of lipids and lipoproteins Glycosphingolipid metabolism Class A/1 (Rhodopsin-like receptors) Platelet degranulation Metabolic disorders of biological oxidation enzymes GPCR ligand binding Peptide ligand-binding receptors Response to elevated platelet cytosolic Ca2+ Platelet activation, signaling and aggregation	Di-Stearoyl-3-Sn-Phosphatidylethanolamine
SETX	senataxin
ABL1	ABL proto-oncogene 1, non-receptor tyrosine kinase	Role of Abl in Robo-Slit signaling CDO in myogenesis Axon guidance Myogenesis Fcgamma receptor (FCGR) dependent phagocytosis Factors involved in megakaryocyte development and platelet production Signaling by Robo receptor Regulation of actin dynamics for phagocytic cup formation Innate Immune System	Adenosine triphosphate Imatinib Dasatinib N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide Nilotinib 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 6-(2,6-DICHLOROPHENYL)-2-{[3-(HYDROXYMETHYL)PHENYL]AMINO}-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE 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
ATR	ATR serine/threonine kinase	Fanconi Anemia pathway G2/M DNA damage checkpoint G2/M Checkpoints Meiotic synapsis Regulation of HSF1-mediated heat shock response Cellular response to heat stress Regulation of the Fanconi anemia pathway Activation of ATR in response to replication stress Cell Cycle Checkpoints
HSPD1	heat shock 60kDa protein 1 (chaperonin)	Mitochondrial protein import
JUP	junction plakoglobin	Cell junction organization Cell-cell junction organization Signaling by VEGF Adherens junctions interactions VEGFR2 mediated vascular permeability VEGFA-VEGFR2 Pathway
MRE11A	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	Meiotic recombination DNA Damage/Telomere Stress Induced Senescence MRN complex relocalizes to nuclear foci Cytosolic sensors of pathogen-associated DNA Cellular Senescence Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks Homologous Recombination Repair STING mediated induction of host immune responses Homologous recombination repair of replication-independent double-strand breaks Recruitment of repair and signaling proteins to double-strand breaks Double-Strand Break Repair IRF3-mediated induction of type I IFN Innate Immune System
MSH6	mutS homolog 6	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch Repair
RPGRIP1	retinitis pigmentosa GTPase regulator interacting protein 1
STAT1	signal transducer and activator of transcription 1, 91kDa	Signaling by PDGF Signaling by FGFR in disease ISG15 antiviral mechanism Interferon Signaling Cytokine Signaling in Immune system Antiviral mechanism by IFN-stimulated genes Signaling by SCF-KIT Downstream signal transduction Signaling by FGFR1 mutants Signaling by FGFR mutants Signaling by FGFR1 fusion mutants
STAT3	signal transducer and activator of transcription 3 (acute-phase response factor)	Signaling by PDGF Signalling by NGF Signaling by FGFR in disease Cellular Senescence Interleukin-6 signaling Senescence-Associated Secretory Phenotype (SASP) Cytokine Signaling in Immune system NGF signalling via TRKA from the plasma membrane Signaling by SCF-KIT Signaling by Interleukins Transcriptional regulation of pluripotent stem cells Downstream signal transduction Signaling by FGFR1 mutants Signalling to STAT3 Signaling by FGFR mutants Signaling by FGFR1 fusion mutants POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Signaling by Leptin Growth hormone receptor signaling
USH2A	Usher syndrome 2A (autosomal recessive, mild)
AKT1	v-akt murine thymoma viral oncogene homolog 1	Signaling by the B Cell Receptor (BCR) Signaling by GPCR Signaling by FGFR in disease Activation of BH3-only proteins Signaling by Wnt Platelet Aggregation (Plug Formation) Signaling by EGFRvIII in Cancer AKT phosphorylates targets in the cytosol Signaling by SCF-KIT Downstream signaling events of B Cell Receptor (BCR) DAP12 signaling Regulation of beta-cell development PI3K/AKT activation PI-3K cascade RNF mutants show enhanced WNT signaling and proliferation Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation Signaling by PDGF Downregulation of ERBB2:ERBB3 signaling DAP12 interactions Regulation of mRNA stability by proteins that bind AU-rich elements GAB1 signalosome misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling G-protein beta:gamma signalling CD28 co-stimulation CD28 dependent PI3K/Akt signaling Signaling by ERBB4 Role of LAT2/NTAL/LAB on calcium mobilization Constitutive PI3K/AKT Signaling in Cancer PI3K events in ERBB4 signaling Signaling by ERBB2 Activation of BAD and translocation to mitochondria Signaling by EGFR GPCR downstream signaling Signaling by VEGF AKT phosphorylates targets in the nucleus Downstream signal transduction Regulation of gene expression in beta cells Signaling by EGFR in Cancer Fc epsilon receptor (FCERI) signaling PI3K/AKT Signaling in Cancer Platelet activation, signaling and aggregation Adaptive Immune System Costimulation by the CD28 family PIP3 activates AKT signaling Translocation of GLUT4 to the plasma membrane deactivation of the beta-catenin transactivating complex VEGFA-VEGFR2 Pathway Metabolism of nitric oxide G beta:gamma signalling through PI3Kgamma PI3K events in ERBB2 signaling VEGFR2 mediated vascular permeability Downstream signaling of activated FGFR Programmed Cell Death XAV939 inhibits tankyrase, stabilizing AXIN eNOS activation and regulation Intrinsic Pathway for Apoptosis Butyrate Response Factor 1 (BRF1) destabilizes mRNA Innate Immune System Signalling by NGF CTLA4 inhibitory signaling AKT-mediated inactivation of FOXO1A Integrin alphaIIb beta3 signaling Signaling by Ligand-Responsive EGFR Variants in Cancer NGF signalling via TRKA from the plasma membrane Negative regulation of the PI3K/AKT network Signaling by Overexpressed Wild-Type EGFR in Cancer Signaling by FGFR eNOS activation TCF dependent signaling in response to WNT KSRP destabilizes mRNA GPVI-mediated activation cascade Signaling by WNT in cancer	Adenosine triphosphate Arsenic trioxide Inositol 1,3,4,5-Tetrakisphosphate 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
ATF1	activating transcription factor 1	CREB phosphorylation Toll Like Receptor 7/8 (TLR7/8) Cascade CREB phosphorylation Toll Like Receptor TLR6:TLR2 Cascade Activated TLR4 signalling Toll Like Receptor TLR1:TLR2 Cascade MyD88 cascade initiated on plasma membrane Toll Like Receptor 5 (TLR5) Cascade MyD88 dependent cascade initiated on endosome TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation MyD88:Mal cascade initiated on plasma membrane Toll Like Receptor 9 (TLR9) Cascade Innate Immune System Signalling by NGF TRIF-mediated TLR3/TLR4 signaling MAP kinase activation in TLR cascade NGF signalling via TRKA from the plasma membrane MyD88-independent cascade Toll Like Receptor 2 (TLR2) Cascade Toll-Like Receptors Cascades Toll Like Receptor 10 (TLR10) Cascade Toll Like Receptor 3 (TLR3) Cascade Toll Like Receptor 4 (TLR4) Cascade MAPK targets/ Nuclear events mediated by MAP kinases Nuclear Events (kinase and transcription factor activation)
BRIP1	BRCA1 interacting protein C-terminal helicase 1	Homologous DNA pairing and strand exchange Cytosolic iron-sulfur cluster assembly Homologous Recombination Repair Homologous recombination repair of replication-independent double-strand breaks Double-Strand Break Repair
CHEK2	checkpoint kinase 2
CREBBP	CREB binding protein	Signaling by NOTCH1 HD Domain Mutants in Cancer Metabolism of lipids and lipoproteins Signaling by Wnt Regulation of gene expression by Hypoxia-inducible Factor Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Generic Transcription Pathway Pre-NOTCH Transcription and Translation RNF mutants show enhanced WNT signaling and proliferation Signaling by NOTCH1 in Cancer Orphan transporters Chromatin organization misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling Signaling by NOTCH formation of the beta-catenin:TCF transactivating complex Factors involved in megakaryocyte development and platelet production Chromatin modifying enzymes LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Signaling by NOTCH1 PEST Domain Mutants in Cancer Activation of gene expression by SREBF (SREBP) Transcriptional activation of mitochondrial biogenesis Constitutive Signaling by NOTCH1 PEST Domain Mutants PPARA activates gene expression Cellular response to hypoxia Organelle biogenesis and maintenance Regulation of Hypoxia-inducible Factor (HIF) by oxygen Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Attenuation phase HATs acetylate histones RORA activates circadian gene expression Regulation of cholesterol biosynthesis by SREBP (SREBF) HSF1-dependent transactivation TRAF3-dependent IRF activation pathway Signaling by NOTCH1 Transcriptional regulation of white adipocyte differentiation XAV939 inhibits tankyrase, stabilizing AXIN Pre-NOTCH Expression and Processing Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Innate Immune System FBXW7 Mutants and NOTCH1 in Cancer Fatty acid, triacylglycerol, and ketone body metabolism Cytosolic sensors of pathogen-associated DNA Cellular response to heat stress REV-ERBA represses gene expression Mitochondrial biogenesis Notch-HLH transcription pathway RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways NOTCH1 Intracellular Domain Regulates Transcription TCF dependent signaling in response to WNT TRAF6 mediated IRF7 activation YAP1- and WWTR1 (TAZ)-stimulated gene expression Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) Signaling by WNT in cancer BMAL1:CLOCK,NPAS2 activates circadian gene expression
DCLRE1C	DNA cross-link repair 1C
DCN	decorin	MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Heparan sulfate/heparin (HS-GAG) metabolism Defective B4GALT7 causes EDS, progeroid type MPS I - Hurler syndrome MPS IX - Natowicz syndrome Chondroitin sulfate/dermatan sulfate metabolism CS/DS degradation Defective SLC26A2 causes chondrodysplasias Glycosaminoglycan metabolism Degradation of the extracellular matrix Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective CHST14 causes EDS, musculocontractural type Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora ECM proteoglycans Defective CHST6 causes MCDC1 Glycogen storage diseases MPS IIID - Sanfilippo syndrome D A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis MPS IIIC - Sanfilippo syndrome C Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective EXT1 causes exostoses 1, TRPS2 and CHDS MPS IV - Morquio syndrome A Dermatan sulfate biosynthesis MPS IV - Morquio syndrome B Defective CHSY1 causes TPBS MPS VII - Sly syndrome Metabolism of carbohydrates MPS VI - Maroteaux-Lamy syndrome
DYNC1H1	dynein, cytoplasmic 1, heavy chain 1	Organelle biogenesis and maintenance Assembly of the primary cilium G2/M Transition Anchoring of the basal body to the plasma membrane Regulation of PLK1 Activity at G2/M Transition Cell Cycle, Mitotic Loss of proteins required for interphase microtubule organizationÂ from the centrosome Loss of Nlp from mitotic centrosomes MHC class II antigen presentation Centrosome maturation Mitotic G2-G2/M phases Recruitment of mitotic centrosome proteins and complexes Adaptive Immune System
ELK4	ELK4, ETS-domain protein (SRF accessory protein 1)
EP300	E1A binding protein p300	Signaling by NOTCH1 HD Domain Mutants in Cancer Metabolism of lipids and lipoproteins Signaling by Wnt NOTCH2 intracellular domain regulates transcription Regulation of gene expression by Hypoxia-inducible Factor Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Signaling by NOTCH2 Pre-NOTCH Transcription and Translation RNF mutants show enhanced WNT signaling and proliferation Signaling by NOTCH1 in Cancer Chromatin organization misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling Signaling by NOTCH formation of the beta-catenin:TCF transactivating complex Factors involved in megakaryocyte development and platelet production Chromatin modifying enzymes LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Signaling by NOTCH1 PEST Domain Mutants in Cancer Mitotic G2-G2/M phases Constitutive Signaling by NOTCH1 PEST Domain Mutants PPARA activates gene expression Cellular response to hypoxia Regulation of Hypoxia-inducible Factor (HIF) by oxygen Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Attenuation phase G2/M Transition HATs acetylate histones RORA activates circadian gene expression HSF1-dependent transactivation TRAF3-dependent IRF activation pathway Signaling by NOTCH1 Transcriptional regulation of white adipocyte differentiation XAV939 inhibits tankyrase, stabilizing AXIN Pre-NOTCH Expression and Processing Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants FBXW7 Mutants and NOTCH1 in Cancer Innate Immune System Fatty acid, triacylglycerol, and ketone body metabolism Cytosolic sensors of pathogen-associated DNA Cellular response to heat stress REV-ERBA represses gene expression Cell Cycle, Mitotic RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways NOTCH1 Intracellular Domain Regulates Transcription TCF dependent signaling in response to WNT TRAF6 mediated IRF7 activation Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) Signaling by WNT in cancer BMAL1:CLOCK,NPAS2 activates circadian gene expression Polo-like kinase mediated events
ETV5	ets variant 5
FAM161A	family with sequence similarity 161, member A
FANCA	Fanconi anemia, complementation group A	Fanconi Anemia pathway
FANCD2	Fanconi anemia, complementation group D2	Fanconi Anemia pathway Regulation of the Fanconi anemia pathway
FLI1	Fli-1 proto-oncogene, ETS transcription factor
JAK2	Janus kinase 2	Signaling by FGFR in disease Signaling by EGFRvIII in Cancer Interferon gamma signaling Toll Like Receptor TLR1:TLR2 Cascade Toll Like Receptor 5 (TLR5) Cascade Interleukin receptor SHC signaling Gastrin-CREB signalling pathway via PKC and MAPK MyD88 dependent cascade initiated on endosome SOS-mediated signalling Prolactin receptor signaling SHC-mediated signalling TRIF-mediated TLR3/TLR4 signaling ERK1 activation ERK1 activation GPCR downstream signaling Signaling by VEGF Downstream signal transduction Toll Like Receptor 3 (TLR3) Cascade Signalling to RAS Interleukin-2 signaling Platelet activation, signaling and aggregation Frs2-mediated activation Axon guidance IRS-mediated signalling Interleukin-6 signaling VEGFA-VEGFR2 Pathway Activated TLR4 signalling VEGFR2 mediated cell proliferation GRB2 events in ERBB2 signaling MyD88:Mal cascade initiated on plasma membrane TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation NCAM signaling for neurite out-growth RAF/MAP kinase cascade Signalling to p38 via RIT and RIN Innate Immune System Signaling by Insulin receptor Insulin receptor signalling cascade Interferon Signaling Signaling by Ligand-Responsive EGFR Variants in Cancer IRS-related events SHC-related events RMTs methylate histone arginines Signaling by FGFR ARMS-mediated activation Toll-Like Receptors Cascades Nuclear signaling by ERBB4 Toll Like Receptor 10 (TLR10) Cascade Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) Interleukin receptor SHC signaling GPVI-mediated activation cascade Signaling by GPCR FCERI mediated MAPK activation SHC1 events in ERBB2 signaling Signaling by SCF-KIT DAP12 signaling Toll Like Receptor 9 (TLR9) Cascade Signaling by PDGF DAP12 interactions G-protein beta:gamma signalling Chromatin organization GRB2 events in EGFR signaling SHC-related events triggered by IGF1R Factors involved in megakaryocyte development and platelet production Signaling by ERBB4 Toll Like Receptor 2 (TLR2) Cascade Signaling by ERBB2 Signaling by EGFR Signaling by Interleukins Chromatin modifying enzymes SHC1 events in ERBB4 signaling Toll Like Receptor 4 (TLR4) Cascade Signaling by EGFR in Cancer Fc epsilon receptor (FCERI) signaling Interleukin-3, 5 and GM-CSF signaling Growth hormone receptor signaling Signaling by Leptin Signalling to ERKs Prolonged ERK activation events ERK activation Toll Like Receptor 7/8 (TLR7/8) Cascade IGF1R signaling cascade Toll Like Receptor TLR6:TLR2 Cascade IRS-related events triggered by IGF1R MyD88 cascade initiated on plasma membrane ERK activation G beta:gamma signalling through PI3Kgamma Downstream signaling of activated FGFR Signalling by NGF SOS-mediated signalling MAP kinase activation in TLR cascade SHC-mediated signalling Cytokine Signaling in Immune system NGF signalling via TRKA from the plasma membrane MyD88-independent cascade Signaling by Overexpressed Wild-Type EGFR in Cancer ERK2 activation SHC1 events in EGFR signaling FRS2-mediated cascade IRS-mediated signalling ERK2 activation Regulation of IFNG signaling
KIF1B	kinesin family member 1B
LCK	LCK proto-oncogene, Src family tyrosine kinase	Signaling by the B Cell Receptor (BCR) Signaling by FGFR in disease Signaling by EGFRvIII in Cancer Nef and signal transduction Signaling by SCF-KIT DAP12 signaling Downstream signaling events of B Cell Receptor (BCR) Regulation of KIT signaling PI3K/AKT activation PI-3K cascade Signaling by PDGF DAP12 interactions GAB1 signalosome CD28 co-stimulation Host Interactions of HIV factors CD28 dependent PI3K/Akt signaling The role of Nef in HIV-1 replication and disease pathogenesis Signaling by ERBB4 Constitutive PI3K/AKT Signaling in Cancer Role of LAT2/NTAL/LAB on calcium mobilization PI3K events in ERBB4 signaling Signaling by ERBB2 Signaling by EGFR Signaling by Interleukins TCR signaling Downstream signal transduction Signaling by EGFR in Cancer Fc epsilon receptor (FCERI) signaling Interleukin-2 signaling PI3K/AKT Signaling in Cancer Platelet activation, signaling and aggregation Adaptive Immune System Downstream TCR signaling Costimulation by the CD28 family PIP3 activates AKT signaling HIV Infection PI3K events in ERBB2 signaling Downstream signaling of activated FGFR Nef Mediated CD4 Down-regulation Innate Immune System Signalling by NGF Generation of second messenger molecules Translocation of ZAP-70 to Immunological synapse Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters CTLA4 inhibitory signaling Signaling by Ligand-Responsive EGFR Variants in Cancer Cytokine Signaling in Immune system NGF signalling via TRKA from the plasma membrane Signaling by Overexpressed Wild-Type EGFR in Cancer CD28 dependent Vav1 pathway PECAM1 interactions Cell surface interactions at the vascular wall Signaling by FGFR PD-1 signaling GPVI-mediated activation cascade Phosphorylation of CD3 and TCR zeta chains	Dasatinib {4-[2-Acetylamino-2-(3-Carbamoyl-2-Cyclohexylmethoxy-6,7,8,9-Tetrahydro-5h-Benzocyclohepten-5ylcarbamoyl)-Ethyl]-2-Phosphono-Phenyl}-Phosphonic Acid Staurosporine 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine (4-{2-Acetylamino-2-[1-(3-Carbamoyl-4-Cyclohexylmethoxy-Phenyl)-Ethylcarbamoyl}-Ethyl}-2-Phosphono-Phenoxy)-Acetic Acid Phosphoaminophosphonic Acid-Adenylate Ester 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine Ponatinib
MSH3	mutS homolog 3	Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Mismatch Repair
NBN	nibrin	ATM mediated phosphorylation of repair proteins Meiotic recombination DNA Damage/Telomere Stress Induced Senescence MRN complex relocalizes to nuclear foci ATM mediated response to DNA double-strand break Cellular Senescence Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks Homologous Recombination Repair Recruitment of repair and signaling proteins to double-strand breaks Homologous recombination repair of replication-independent double-strand breaks Double-Strand Break Repair
ND1	NADH dehydrogenase, subunit 1 (complex I)	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Respiratory electron transport The citric acid (TCA) cycle and respiratory electron transport
NPC2	Niemann-Pick disease, type C2
PEX5	peroxisomal biogenesis factor 5
PRPF3	pre-mRNA processing factor 3
RBBP8	retinoblastoma binding protein 8	Meiotic recombination
RUNX1T1	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SMAD2	SMAD family member 2	Loss of Function of TGFBR2 in Cancer SMAD2/3 MH2 Domain Mutants in Cancer Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling activates SMADs TGFBR1 LBD Mutants in Cancer Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Generic Transcription Pathway Signaling by NODAL TGFBR2 MSI Frameshift Mutants in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer Loss of Function of SMAD2/3 in Cancer Signaling by Activin TGFBR2 Kinase Domain Mutants in Cancer Loss of Function of SMAD4 in Cancer TGFBR1 KD Mutants in Cancer Loss of Function of TGFBR1 in Cancer Signaling by TGF-beta Receptor Complex in Cancer Signaling by TGF-beta Receptor Complex SMAD4 MH2 Domain Mutants in Cancer
SMC1A	structural maintenance of chromosomes 1A	Establishment of Sister Chromatid Cohesion Processing of Capped Intron-Containing Pre-mRNA mRNA Splicing Mitotic Prometaphase Mitotic Telophase/Cytokinesis Separation of Sister Chromatids Meiotic synapsis Cohesin Loading onto Chromatin mRNA Splicing - Major Pathway Mitotic Anaphase S Phase M Phase Cell Cycle, Mitotic Resolution of Sister Chromatid Cohesion Mitotic Metaphase and Anaphase
SNRNP200	small nuclear ribonucleoprotein 200kDa (U5)	Processing of Capped Intron-Containing Pre-mRNA mRNA Splicing mRNA Splicing - Minor Pathway mRNA Splicing - Major Pathway
TSEN54	TSEN54 tRNA splicing endonuclease subunit
UBE3A	ubiquitin protein ligase E3A	Antigen processing: Ubiquitination & Proteasome degradation Class I MHC mediated antigen processing & presentation Adaptive Immune System
VCP	valosin containing protein	HSF1 activation Hedgehog ligand biogenesis Processing-defective Hh variants abrogate ligand secretion Hh ligand biogenesis disease Signaling by Hedgehog Cellular response to heat stress
XIAP	X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase	misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling SMAC binds to IAPs SMAC-mediated dissociation of IAP:caspase complexes SMAC-mediated apoptotic response Signaling by Wnt deactivation of the beta-catenin transactivating complex Apoptotic factor-mediated response TCF dependent signaling in response to WNT RNF mutants show enhanced WNT signaling and proliferation Programmed Cell Death XAV939 inhibits tankyrase, stabilizing AXIN Signaling by WNT in cancer Intrinsic Pathway for Apoptosis	1-[3,3-Dimethyl-2-(2-Methylamino-Propionylamino)-Butyryl]-Pyrrolidine-2-Carboxylic Acid(1,2,3,4-Tetrahydro-Naphthalen-1-Yl)-Amide N-METHYLALANYL-3-METHYLVALYL-4-PHENOXY-N-(1,2,3,4-TETRAHYDRONAPHTHALEN-1-YL)PROLINAMIDE
ZNF423	zinc finger protein 423

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