RB1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
BRCA1	BRCA1 DNA repair associated	Meiotic synapsis SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Metalloprotease DUBs Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange TP53 Regulates Transcription of DNA Repair Genes Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Transcriptional Regulation by E2F6 Meiotic recombination Defective DNA double strand break response due to BRCA1 loss of function Defective DNA double strand break response due to BARD1 loss of function		Breast cancer Ovarian 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
CDKN1C	cyclin dependent kinase inhibitor 1C	Cyclin D associated events in G1 Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)		Beckwith-Wiedemann syndrome Adrenal carcinoma
STAT3	signal transducer and activator of transcription 3	Interleukin-6 signaling BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members Interleukin-7 signaling Interleukin-7 signaling Signaling by SCF-KIT Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction Signalling to STAT3 Senescence-Associated Secretory Phenotype (SASP) Signaling by Leptin POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Association of TriC/CCT with target proteins during biosynthesis Transcriptional regulation of pluripotent stem cells Interleukin-10 signaling Interleukin-4 and Interleukin-13 signaling PTK6 Activates STAT3 PTK6 Activates STAT3 Interleukin-20 family signaling MET activates STAT3 MET activates STAT3 Interleukin-15 signaling Interleukin-35 Signalling Interleukin-9 signaling Interleukin-37 signaling Interleukin-23 signaling Interleukin-23 signaling Interleukin-27 signaling Interleukin-21 signaling Transcriptional regulation of granulopoiesis Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Growth hormone receptor signaling	ENMD-1198	Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Oral cancer
VDR	vitamin D receptor	Vitamin D (calciferol) metabolism Nuclear Receptor transcription pathway SUMOylation of intracellular receptors	Calcitriol Calcifediol Ergocalciferol Cholecalciferol Paricalcitol Dihydrotachysterol Alfacalcidol Calcipotriol Lexacalcitol Seocalcitol Cholesterol Inecalcitol Becocalcidiol CTA018 Eldecalcitol Elocalcitol Doxercalciferol (1R,3R)-5-[(2E)-3-{(1S,3R)-2,2,3-trimethyl-3-[6,6,6-trifluoro-5-hydroxy-5-(trifluoromethyl)hex-3-yn-1-yl]cyclopentyl}prop-2-en-1-ylidene]cyclohexane-1,3-diol 1,3-CYCLOHEXANEDIOL, 4-METHYLENE-5-[(2E)-[(1S,3AS,7AS)-OCTAHYDRO-1-(5-HYDROXY-5-METHYL-1,3-HEXADIYNYL)-7A-METHYL-4H-INDEN-4-YLIDENE]ETHYLIDENE]-, (1R,3S,5Z) Vitamin D Curcumin Curcumin sulfate	Tuberculosis Localized autosomal recessive hypotrichosis
ZBTB16	zinc finger and BTB domain containing 16	Neddylation Antigen processing: Ubiquitination & Proteasome degradation		Skeletal defects, genital hypoplasia, and mental retardation Acute myeloid leukemia (AML)
BAAT	bile acid-CoA:amino acid N-acyltransferase	Recycling of bile acids and salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Peroxisomal protein import Peroxisomal protein import	Glycine	Peroxisomal beta-oxidation enzyme deficiency, including: Acyl-CoA oxidase (ACOX) deficiency; D-bifunctional protein (DBP) deficiency; Perrault syndrome; Sterol carrier protein X (SCPx) deficiency; 2-Methylacyl-CoA racemase (AMCR) deficiency; Hypercholanemia
CASP10	caspase 10	TP53 Regulates Transcription of Caspase Activators and Caspases FasL/ CD95L signaling TRAIL signaling NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10		Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
CASP8	caspase 8	Apoptotic cleavage of cellular proteins Caspase activation via Death Receptors in the presence of ligand NOD1/2 Signaling Pathway TRIF-mediated programmed cell death Caspase-mediated cleavage of cytoskeletal proteins Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited TNFR1-induced proapoptotic signaling Regulation of TNFR1 signaling CLEC7A/inflammasome pathway Regulation of necroptotic cell death Dimerization of procaspase-8 Activation, myristolyation of BID and translocation to mitochondria Apoptotic execution phase FasL/ CD95L signaling TRAIL signaling TLR3-mediated TICAM1-dependent programmed cell death NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 Microbial modulation of RIPK1-mediated regulated necrosis Defective RIPK1-mediated regulated necrosis	Bryostatin 1 Bardoxolone	Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
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
CDKN1A	cyclin dependent kinase inhibitor 1A	SCF(Skp2)-mediated degradation of p27/p21 AKT phosphorylates targets in the cytosol Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence Constitutive Signaling by AKT1 E17K in Cancer Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Cyclin E associated events during G1/S transition Cyclin D associated events in G1 p53-Dependent G1 DNA Damage Response Cyclin A:Cdk2-associated events at S phase entry Transcriptional activation of cell cycle inhibitor p21 The role of GTSE1 in G2/M progression after G2 checkpoint TFAP2 (AP-2) family regulates transcription of cell cycle factors Transcriptional regulation by RUNX2 RUNX3 regulates CDKN1A transcription Transcriptional regulation of granulopoiesis FOXO-mediated transcription of cell cycle genes Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) STAT5 activation downstream of FLT3 ITD mutants Signaling by FLT3 fusion proteins	Arsenic trioxide	Cervical cancer
CEBPA	CCAAT enhancer binding protein alpha	Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of granulopoiesis Transcriptional regulation of granulopoiesis		Acute myeloid leukemia (AML)
CEBPE	CCAAT enhancer binding protein epsilon	Transcriptional regulation of granulopoiesis		Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
EP300	E1A binding protein p300	Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression Polo-like kinase mediated events Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation PPARA activates gene expression PPARA activates gene expression Formation of the beta-catenin:TCF transactivating complex Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription NOTCH2 intracellular domain regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production HATs acetylate histones Attenuation phase Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation SUMOylation of transcription cofactors Circadian Clock B-WICH complex positively regulates rRNA expression Activation of anterior HOX genes in hindbrain development during early embryogenesis CD209 (DC-SIGN) signaling Metalloprotease DUBs 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 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Methylation PI5P Regulates TP53 Acetylation Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling Regulation of RUNX3 expression and activity RUNX3 regulates p14-ARF NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux NGF-stimulated transcription NGF-stimulated transcription TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation FOXO-mediated transcription of cell death genes Transcriptional regulation of granulopoiesis Transcriptional regulation of granulopoiesis Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation		Rubinstein-Taybi syndrome
FANCC	FA complementation group C	Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes		Fanconi anemia
FBP1	fructose-bisphosphatase 1	Gluconeogenesis	Adenosine phosphate 2,5-Anhydroglucitol-1,6-Biphosphate {4-[3-(6,7-Diethoxy-Quinazolin-4-Ylamino)-Phenyl]-Thiazol-2-Yl}-Methanol Mdl-29951 Fructose-6-phosphate MB-07803 Managlinat dialanetil N-[7-(3-AMINOPHENYL)-5-METHOXY-1,3-BENZOXAZOL-2-YL]-2,5-DICHLOROBENZENESULFONAMIDE 2,5-DICHLORO-N-(5-CHLORO-1,3-BENZOXAZOL-2-YL)BENZENESULFONAMIDE 2,5-DICHLORO-N-[5-METHOXY-7-(6-METHOXYPYRIDIN-3-YL)-1,3-BENZOXAZOL-2-YL]BENZENESULFONAMIDE 4-AMINO-N-[(2-SULFANYLETHYL)CARBAMOYL]BENZENESULFONAMIDE	Fructose-1,6-bisphosphatase deficiency
ORC1	origin recognition complex subunit 1	E2F-enabled inhibition of pre-replication complex formation Activation of ATR in response to replication stress Assembly of the ORC complex at the origin of replication CDC6 association with the ORC:origin complex CDT1 association with the CDC6:ORC:origin complex Assembly of the pre-replicative complex Orc1 removal from chromatin Activation of the pre-replicative complex G1/S-Specific Transcription		Patella dysplasias, including: Small patella syndrome (SPS); Nail-patella syndrome; Ear-patella-short statute syndrome
PAX2	paired box 2			Renal coloboma syndrome (RCS); Papillorenal syndrome
PAX5	paired box 5	RUNX1 regulates transcription of genes involved in BCR signaling		Lymphoplasmacytic lymphoma
PML	PML nuclear body scaffold	SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Regulation of TP53 Activity through Acetylation Interferon gamma signaling Regulation of RUNX1 Expression and Activity Regulation of PTEN localization HCMV Early Events	Arsenic trioxide	Acute myeloid leukemia (AML)

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