MUC1 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	RFX5	regulatory factor X5			Bare lymphocyte syndrome (BLS) type2 Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
Novel	GALE	UDP-galactose-4-epimerase	Defective GALE can cause Epimerase-deficiency galactosemia (EDG) Galactose catabolism	Uridine diphosphate glucose Uridine-Diphosphate-N-Acetylgalactosamine UDP-alpha-D-glucuronic acid Tetramethylammonium Uridine-Diphosphate-N-Acetylglucosamine Galactose-uridine-5'-diphosphate	Galactosemia
Novel	PKLR	pyruvate kinase L/R		Pyruvic acid 2-Phosphoglycolic Acid beta-D-fructofuranose 1,6-bisphosphate	Pyruvate kinase (PK) deficiency, including: Red cell pyruvate kinase (PK) deficiency; Pyruvate kinase hyperactivity
Novel	RPS24	ribosomal protein S24	L13a-mediated translational silencing of Ceruloplasmin expression Peptide chain elongation SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Selenocysteine synthesis Major pathway of rRNA processing in the nucleolus and cytosol Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit Eukaryotic Translation Termination Regulation of expression of SLITs and ROBOs Response of EIF2AK4 (GCN2) to amino acid deficiency Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)		Diamond-Blackfan anemia (DBA)
Novel	ADGRL2	adhesion G protein-coupled receptor L2
Novel	E2F2	E2F transcription factor 2	Oxidative Stress Induced Senescence Oncogene Induced Senescence CDC6 association with the ORC:origin complex Cyclin D associated events in G1 Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
Novel	IKBKE	inhibitor of nuclear factor kappa B kinase subunit epsilon	SUMOylation of immune response proteins TICAM1-dependent activation of IRF3/IRF7 TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation Negative regulators of DDX58/IFIH1 signaling Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon	Fostamatinib
Novel	LTB4R2	leukotriene B4 receptor 2	Leukotriene receptors G alpha (q) signalling events	Amelubant Leukotriene B4
Novel	OAZ1	ornithine decarboxylase antizyme 1	Regulation of ornithine decarboxylase (ODC)	Ornithine
Novel	PSMB4	proteasome 20S subunit beta 4	Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha ER-Phagosome pathway Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Regulation of activated PAK-2p34 by proteasome mediated degradation Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK-->noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Regulation of expression of SLITs and ROBOs Interleukin-1 signaling Negative regulation of NOTCH4 signaling Antigen processing: Ubiquitination & Proteasome degradation	(3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
Novel	SYT13	synaptotagmin 13
Novel	TFB2M	transcription factor B2, mitochondrial	Mitochondrial transcription initiation Transcriptional activation of mitochondrial biogenesis
	TP53	tumor protein p53	Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation PI5P Regulates TP53 Acetylation G2/M DNA damage checkpoint G2/M Checkpoints Stabilization of p53 Transcriptional activation of cell cycle inhibitor p21 The role of GTSE1 in G2/M progression after G2 checkpoint Transcriptional Regulation by VENTX RUNX3 regulates CDKN1A transcription Regulation of PTEN gene transcription Regulation of PTEN gene transcription Factors involved in megakaryocyte development and platelet production	Acetylsalicylic acid Zinc Triethyl phosphate AZD 3355 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Osteosarcoma Adrenal carcinoma Thyroid cancer Breast cancer Basal cell carcinoma Malignant melanoma Pancreatic cancer Gastric cancer Malignant pleural mesothelioma Non-small cell lung cancer Esophageal cancer Oral cancer Multiple myeloma Small cell lung cancer Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL) Glioma Squamous cell carcinoma Kaposi's sarcoma Cholangiocarcinoma Gallbladder cancer Cancer of the anal canal Hepatocellular carcinoma Choriocarcinoma Vulvar cancer Choroid plexus papilloma Burkitt lymphoma Adult T-cell leukemia Hairy-cell leukemia Bladder cancer Chronic lymphocytic leukemia (CLL) Penile cancer Endometrial Cancer Ovarian cancer Colorectal cancer Laryngeal cancer Chronic myeloid leukemia (CML)
	ERBB2	erb-b2 receptor tyrosine kinase 2	Signaling by ERBB2 SHC1 events in ERBB2 signaling SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling PIP3 activates AKT signaling GRB7 events in ERBB2 signaling Downregulation of ERBB2:ERBB3 signaling GRB2 events in ERBB2 signaling GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling Constitutive Signaling by Aberrant PI3K in Cancer Sema4D induced cell migration and growth-cone collapse RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Constitutive Signaling by Overexpressed ERBB2 Drug-mediated inhibition of ERBB2 signaling Signaling by ERBB2 KD Mutants Resistance of ERBB2 KD mutants to trastuzumab Resistance of ERBB2 KD mutants to sapitinib Resistance of ERBB2 KD mutants to tesevatinib Resistance of ERBB2 KD mutants to neratinib Resistance of ERBB2 KD mutants to osimertinib Resistance of ERBB2 KD mutants to afatinib Resistance of ERBB2 KD mutants to AEE788 Resistance of ERBB2 KD mutants to lapatinib Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants Drug resistance in ERBB2 TMD/JMD mutants	Trastuzumab Lapatinib IGN311 Trastuzumab emtansine Varlitinib AV-412 Pertuzumab Afatinib Tucatinib Tesevatinib Fostamatinib Brigatinib Margetuximab Zanubrutinib	Choriocarcinoma Pancreatic cancer Gastric cancer Bladder cancer Endometrial Cancer Ovarian cancer Cholangiocarcinoma Breast cancer Cervical cancer
	EGFR	epidermal growth factor receptor	Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling PIP3 activates AKT signaling Signaling by EGFR GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma EGFR Transactivation by Gastrin Constitutive Signaling by Aberrant PI3K in Cancer Signal transduction by L1 Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis PTK6 promotes HIF1A stabilization Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus HCMV Early Events Estrogen-dependent nuclear events downstream of ESR-membrane signaling Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants	Cetuximab Lidocaine Gefitinib Erlotinib Lapatinib Panitumumab Alvocidib IGN311 Matuzumab Vandetanib Rindopepimut Canertinib Pelitinib Varlitinib AV-412 S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE PD-168393 Afatinib Osimertinib Necitumumab Foreskin keratinocyte (neonatal) Depatuxizumab mafodotin Icotinib Neratinib Dacomitinib Fostamatinib Zalutumumab Brigatinib Olmutinib Zanubrutinib Abivertinib	Choriocarcinoma Gastric cancer Bladder cancer Oral cancer Glioma Laryngeal cancer Cervical cancer Esophageal cancer
	CTNNB1	catenin beta 1	Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Myogenesis Signaling by GSK3beta mutants S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated RHO GTPases activate IQGAPs Transcriptional Regulation by VENTX InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling	Urea	Gastric cancer Colorectal cancer Endometrial Cancer Pilomatricoma; Epithelioma calcificans of Malherbe Thyroid cancer Hepatocellular carcinoma
	APC	APC regulator of WNT signaling pathway	Apoptotic cleavage of cellular proteins Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade Deactivation of the beta-catenin transactivating complex Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane Signaling by GSK3beta mutants S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated APC truncation mutants are not K63 polyubiquitinated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Ovarian tumor domain proteases		Familial adenomatous polyposis Esophageal cancer Gastric cancer Cancer of the anal canal Gallbladder cancer
	NEU1	neuraminidase 1	Glycosphingolipid metabolism Sialic acid metabolism Defective NEU1 causes sialidosis Neutrophil degranulation	Oseltamivir	Sialidosis; Mucolipidosis I Galactosialidosis 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)
	PPARG	peroxisome proliferator activated receptor gamma	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Regulation of PTEN gene transcription Regulation of PTEN gene transcription MECP2 regulates transcription factors	alpha-Linolenic acid Icosapent Troglitazone Mesalazine Valproic acid Indomethacin Rosiglitazone Fenoprofen Nateglinide Sulfasalazine Clofazimine Repaglinide Telmisartan Balsalazide Ibuprofen Glipizide Amiodarone Pioglitazone Mitiglinide Bezafibrate Flufenamic acid Resveratrol Phthalic Acid Capric acid Doconexent Oleic Acid (S)-3-(4-(2-Carbazol-9-Yl-Ethoxy)-Phenyl)-2-Ethoxy-Propionic Acid 2-{5-[3-(6-BENZOYL-1-PROPYLNAPHTHALEN-2-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID Reglitazar Elafibranor AMG-131 CLX-0921 Muraglitazar Ertiprotafib Ragaglitazar Tesaglitazar (2S)-3-(1-{[2-(2-CHLOROPHENYL)-5-METHYL-1,3-OXAZOL-4-YL]METHYL}-1H-INDOL-5-YL)-2-ETHOXYPROPANOIC ACID (9Z,11E,13S)-13-hydroxyoctadeca-9,11-dienoic acid 2-{5-[3-(7-PROPYL-3-TRIFLUOROMETHYLBENZO[D]ISOXAZOL-6-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID (4S,5E,7Z,10Z,13Z,16Z,19Z)-4-hydroxydocosa-5,7,10,13,16,19-hexaenoic acid (5R,6E,8Z,11Z,14Z,17Z)-5-hydroxyicosa-6,8,11,14,17-pentaenoic acid (8E,10S,12Z)-10-hydroxy-6-oxooctadeca-8,12-dienoic acid (8R,9Z,12Z)-8-hydroxy-6-oxooctadeca-9,12-dienoic acid 9(S)-HODE difluoro(5-{2-[(5-octyl-1H-pyrrol-2-yl-kappaN)methylidene]-2H-pyrrol-5-yl-kappaN}pentanoato)boron (2S)-2-ETHOXY-3-{4-[2-(10H-PHENOXAZIN-10-YL)ETHOXY]PHENYL}PROPANOIC ACID 3-(5-methoxy-1H-indol-3-yl)propanoic acid Indeglitazar (2S)-2-(4-ethylphenoxy)-3-phenylpropanoic acid 2-chloro-5-nitro-N-phenylbenzamide (2S)-2-(biphenyl-4-yloxy)-3-phenylpropanoic acid 3-[5-(2-nitropent-1-en-1-yl)furan-2-yl]benzoic acid 2-[(2,4-DICHLOROBENZOYL)AMINO]-5-(PYRIMIDIN-2-YLOXY)BENZOIC ACID (5E,14E)-11-oxoprosta-5,9,12,14-tetraen-1-oic acid 3-FLUORO-N-[1-(4-FLUOROPHENYL)-3-(2-THIENYL)-1H-PYRAZOL-5-YL]BENZENESULFONAMIDE Triclosan (2S)-2-(4-chlorophenoxy)-3-phenylpropanoic acid Aleglitazar Clinofibrate Cannabidiol Lobeglitazone Ciglitazone Dexibuprofen Omega-3 fatty acids Curcumin Arhalofenate Isoflavone Naveglitazar Fenofibric acid Fish oil Medical Cannabis Nabiximols Darglitazone Curcumin sulfate	Type II diabetes mellitus Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy Thyroid cancer
	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)

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