RHEB - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	PLD1	phospholipase D1	Synthesis of PG Synthesis of PA Role of phospholipids in phagocytosis Neutrophil degranulation RHOA GTPase cycle CDC42 GTPase cycle RAC1 GTPase cycle RHOG GTPase cycle	Choline LAX-101 Choline salicylate
Novel	PPP1R3C	protein phosphatase 1 regulatory subunit 3C	Glycogen synthesis Myoclonic epilepsy of Lafora
Novel	PSEN1	presenilin 1	Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 TGFBR3 PTM regulation		Alzheimer's disease (AD) Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3) Acne inversa; Hidradenitis supprativa
Novel	PSEN2	presenilin 2	Nuclear signaling by ERBB4 Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 TGFBR3 PTM regulation		Alzheimer's disease (AD)
Novel	PTPRN2	protein tyrosine phosphatase receptor type N2	Neutrophil degranulation
Novel	RABAC1	Rab acceptor 1
Novel	RAF1	Raf-1 proto-oncogene, serine/threonine kinase	Stimuli-sensing channels Rap1 signalling GP1b-IX-V activation signalling CD209 (DC-SIGN) signaling 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 IFNG signaling activates MAPKs	Sorafenib LErafAON XL281 iCo-007 Cholecystokinin Regorafenib Dabrafenib Fostamatinib
Novel	RNF152	ring finger protein 152	E3 ubiquitin ligases ubiquitinate target proteins
Novel	RPS6KB1	ribosomal protein S6 kinase B1	mTORC1-mediated signalling
Novel	RPTOR	regulatory associated protein of MTOR complex 1	Macroautophagy MTOR signalling mTORC1-mediated signalling HSF1-dependent transactivation Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes Regulation of PTEN gene transcription Amino acids regulate mTORC1
Novel	TRIM55	tripartite motif containing 55
Novel	TRIM63	tripartite motif containing 63	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Antigen processing: Ubiquitination & Proteasome degradation
Novel	TSC1	TSC complex subunit 1	Macroautophagy Inhibition of TSC complex formation by PKB Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes TBC/RABGAPs		Lymphangioleiomyomatosis (LAM) Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
Novel	TSC2	TSC complex subunit 2	Macroautophagy Inhibition of TSC complex formation by PKB AKT phosphorylates targets in the cytosol Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer TBC/RABGAPs		Lymphangioleiomyomatosis (LAM) Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
Novel	USP4	ubiquitin specific peptidase 4	TNFR1-induced proapoptotic signaling Regulation of TNFR1 signaling TNFR1-induced NF-kappa-B signaling pathway Ub-specific processing proteases
	A2M	alpha-2-macroglobulin	Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation Degradation of the extracellular matrix HDL assembly	Becaplermin Cisplatin Bacitracin Zinc Ocriplasmin Silver Zinc acetate Zinc chloride Zinc sulfate, unspecified form
	APOE	apolipoprotein E	Nuclear signaling by ERBB4 Scavenging by Class A Receptors Scavenging by Class A Receptors Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Post-translational protein phosphorylation Chylomicron assembly Chylomicron remodeling Chylomicron clearance Chylomicron clearance HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux Retinoid metabolism and transport Retinoid metabolism and transport Amyloid fiber formation	Zinc Copper Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Alzheimer's disease (AD) Hyperlipoproteinemia, type III; Dysbetalipoproteinemia Lipoprotein glomerulopathy
	APPBP2	amyloid beta precursor protein binding protein 2
	ARIH2	ariadne RBR E3 ubiquitin protein ligase 2	Antigen processing: Ubiquitination & Proteasome degradation
	ATM	ATM serine/threonine kinase	DNA Damage/Telomere Stress Induced Senescence Regulation of HSF1-mediated heat shock response Autodegradation of the E3 ubiquitin ligase COP1 HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks 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 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 Regulates Transcription of Caspase Activators and Caspases Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation G2/M DNA damage checkpoint Stabilization of p53 Meiotic recombination Pexophagy Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2	Caffeine	Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome Chronic lymphocytic leukemia (CLL) Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2) DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome

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