DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0010178)

Number of enzymes:	1
Number of disease:	1
Number of reactomes:	9
Number of reactions:	49

Search results (Disease ID: MONDO:0010178)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0010178	CFTR	P13569	5.6.1.6	R-HSA-9613829 R-HSA-9613829 Reactome Name: Chaperone Mediated Autophagy See in Reactome R-HSA-8856828 R-HSA-8856828 Reactome Name: Clathrin-mediated endocytosis See in Reactome R-HSA-382556 R-HSA-382556 Reactome Name: ABC-family proteins mediated transport See in Reactome R-HSA-8856825 R-HSA-8856825 Reactome Name: Cargo recognition for clathrin-mediated endocytosis See in Reactome R-HSA-9615710 R-HSA-9615710 Reactome Name: Late endosomal microautophagy See in Reactome R-HSA-5689880 R-HSA-5689880 Reactome Name: Ub-specific processing proteases See in Reactome R-HSA-5627083 R-HSA-5627083 Reactome Name: RHO GTPases regulate CFTR trafficking See in Reactome R-HSA-9646399 R-HSA-9646399 Reactome Name: Aggrephagy See in Reactome R-HSA-9013406 R-HSA-9013406 Reactome Name: RHOQ GTPase cycle See in Reactome	R-HSA-1632852 R-HSA-1632852 Reactome Name: Macroautophagy See in Reactome R-HSA-195258 R-HSA-195258 Reactome Name: RHO GTPase Effectors See in Reactome R-HSA-9612973 R-HSA-9612973 Reactome Name: Autophagy See in Reactome R-HSA-9012999 R-HSA-9012999 Reactome Name: RHO GTPase cycle See in Reactome R-HSA-5688426 R-HSA-5688426 Reactome Name: Deubiquitination See in Reactome R-HSA-194315 R-HSA-194315 Reactome Name: Signaling by Rho GTPases See in Reactome R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-9663891 R-HSA-9663891 Reactome Name: Selective autophagy See in Reactome R-HSA-199991 R-HSA-199991 Reactome Name: Membrane Trafficking See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-9716542 R-HSA-9716542 Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-5653656 R-HSA-5653656 Reactome Name: Vesicle-mediated transport See in Reactome	Autophagy Transport of small molecules Metabolism of proteins Signal Transduction Vesicle-mediated transport	R-HSA-1454916 ( R-HSA-382556 ) R-HSA-1454916 Reaction Name: The ABCC family mediates organic anion transport See in Reactome R-HSA-383190 ( R-HSA-382556 ) R-HSA-383190 Reaction Name: HCO3- transport through ion channel See in Reactome R-HSA-5627071 ( R-HSA-5627083 ) R-HSA-5627071 Reaction Name: RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membrane See in Reactome R-HSA-5627072 ( R-HSA-5627083; R-HSA-9013406 ) R-HSA-5627072 Reaction Name: RHOQ binds GOPC:CFTR See in Reactome R-HSA-5627275 ( R-HSA-5627083 ) R-HSA-5627275 Reaction Name: GOPC promotes translocation of CFTR to lysosomes See in Reactome R-HSA-5678863 ( R-HSA-382556 ) R-HSA-5678863 Reaction Name: CFTR transports Cl- from cytosol to extracellular region See in Reactome R-HSA-6782106 ( R-HSA-5689880 ) R-HSA-6782106 Reaction Name: USP10 deubiquitinates SNX3, CFTR See in Reactome R-HSA-8866277 ( R-HSA-8856825; R-HSA-8856828 ) R-HSA-8866277 Reaction Name: AP-2 directly binds some endocytic cargo See in Reactome R-HSA-8866542 ( R-HSA-382556 ) R-HSA-8866542 Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol See in Reactome R-HSA-8866546 ( R-HSA-382556 ) R-HSA-8866546 Reaction Name: RNF5 and RNF185 ubiquitinate misfolded CFTR See in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551 Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradation See in Reactome R-HSA-8866553 ( R-HSA-382556 ) R-HSA-8866553 Reaction Name: misfolded CFTR is degraded by the 26S proteasome See in Reactome R-HSA-8866851 ( R-HSA-382556 ) R-HSA-8866851 Reaction Name: CFTR transits to the plasma membrane See in Reactome R-HSA-8867754 ( R-HSA-8856828 ) R-HSA-8867754 Reaction Name: F- and N- BAR domain proteins bind the clathrin-coated pit See in Reactome R-HSA-8867756 ( R-HSA-8856828 ) R-HSA-8867756 Reaction Name: CLASP proteins and cargo are recruited to the nascent clathrin-coated pit See in Reactome R-HSA-8868071 ( R-HSA-8856828 ) R-HSA-8868071 Reaction Name: Clathrin recruits PIK3C2A See in Reactome R-HSA-8868072 ( R-HSA-8856828 ) R-HSA-8868072 Reaction Name: Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2 See in Reactome R-HSA-8868230 ( R-HSA-8856828 ) R-HSA-8868230 Reaction Name: SNX9 recruits components of the actin polymerizing machinery See in Reactome R-HSA-8868236 ( R-HSA-8856828 ) R-HSA-8868236 Reaction Name: BAR domain proteins recruit dynamin See in Reactome R-HSA-8868648 ( R-HSA-8856828 ) R-HSA-8868648 Reaction Name: SYNJ hydrolyze PI(4,5)P2 to PI(4)P See in Reactome R-HSA-8868651 ( R-HSA-8856828 ) R-HSA-8868651 Reaction Name: Endophilins recruit synaptojanins to the clathrin-coated pit See in Reactome R-HSA-8868658 ( R-HSA-8856828 ) R-HSA-8868658 Reaction Name: HSPA8-mediated ATP hydrolysis promotes vesicle uncoating See in Reactome R-HSA-8868659 ( R-HSA-8856828 ) R-HSA-8868659 Reaction Name: Clathrin recruits auxilins to the clathrin-coated vesicle See in Reactome R-HSA-8868660 ( R-HSA-8856828 ) R-HSA-8868660 Reaction Name: Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle See in Reactome R-HSA-8868661 ( R-HSA-8856828 ) R-HSA-8868661 Reaction Name: Dynamin-mediated GTP hydrolysis promotes vesicle scission See in Reactome R-HSA-8869438 ( R-HSA-8856828 ) R-HSA-8869438 Reaction Name: Dissociation of clathrin-associated proteins See in Reactome R-HSA-8871193 ( R-HSA-8856828 ) R-HSA-8871193 Reaction Name: Dissociation of AAK1 and dephosphorylation of AP-2 mu2 See in Reactome R-HSA-8871194 ( R-HSA-8856828 ) R-HSA-8871194 Reaction Name: RAB5 and GAPVD1 bind AP-2 See in Reactome R-HSA-9615721 ( R-HSA-9613829; R-HSA-9615710 ) R-HSA-9615721 Reaction Name: HSPA8 binds substrate See in Reactome R-HSA-9620197 ( R-HSA-9613829 ) R-HSA-9620197 Reaction Name: HSPA8:Substrate binds LAMP2a See in Reactome R-HSA-9622831 ( R-HSA-9613829 ) R-HSA-9622831 Reaction Name: Substrate:LAMP2a binds HSP90 See in Reactome R-HSA-9622840 ( R-HSA-9613829 ) R-HSA-9622840 Reaction Name: HSPA8 dissociates from LAMP2A-bound substrate See in Reactome R-HSA-9624158 ( R-HSA-9613829 ) R-HSA-9624158 Reaction Name: Substrate:LAMP2a:HSP90 polymerizes See in Reactome R-HSA-9625188 ( R-HSA-9613829 ) R-HSA-9625188 Reaction Name: HSPA8 transports unfolded substrate to lysosomal lumen for degradation See in Reactome R-HSA-9625196 ( R-HSA-9613829 ) R-HSA-9625196 Reaction Name: Unfolded substrate in LAMP2a multimeric complex binds HSPA8 See in Reactome R-HSA-9625197 ( R-HSA-9613829 ) R-HSA-9625197 Reaction Name: GFAP binds LAMP2a multimer See in Reactome R-HSA-9626060 ( R-HSA-9613829 ) R-HSA-9626060 Reaction Name: HSPA8:Substrate dissociates from LAMP2a multimer See in Reactome R-HSA-9631065 ( R-HSA-9615710 ) R-HSA-9631065 Reaction Name: Substrate translocates into late endosomal lumen See in Reactome R-HSA-9631068 ( R-HSA-9615710 ) R-HSA-9631068 Reaction Name: HSPA8:substrate binds late endosomal phospholipids See in Reactome R-HSA-9641109 ( R-HSA-9646399 ) R-HSA-9641109 Reaction Name: PolyUb:misfolded proteins dissociate from PRKN:UBE2N:UBE2V1 See in Reactome R-HSA-9641111 ( R-HSA-9646399 ) R-HSA-9641111 Reaction Name: Parkin transfers Ub to misfolded proteins See in Reactome R-HSA-9641127 ( R-HSA-9646399 ) R-HSA-9641127 Reaction Name: Ub:misfolded proteins polymerize to PolyUb:misfolded proteins See in Reactome R-HSA-9646347 ( R-HSA-9646399 ) R-HSA-9646347 Reaction Name: PolyUb-misfolded proteins bind VCP:HDAC6:HSP90:HSF1 See in Reactome R-HSA-9646348 ( R-HSA-9646399 ) R-HSA-9646348 Reaction Name: PolyUb-Misfolded Proteins:HDAC6 bind dynein motor See in Reactome R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354 Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complex See in Reactome R-HSA-9646383 ( R-HSA-9646399 ) R-HSA-9646383 Reaction Name: Dynein motors transport misfolded proteins See in Reactome R-HSA-9646390 ( R-HSA-9646399 ) R-HSA-9646390 Reaction Name: Misfolded proteins:HDAC6:Dynein motor binds microtubule See in Reactome R-HSA-9646679 ( R-HSA-9646399 ) R-HSA-9646679 Reaction Name: PolyUb-Misfolded proteins bind vimentin to form aggresome See in Reactome R-HSA-9646685 ( R-HSA-9646399 ) R-HSA-9646685 Reaction Name: Aggresome dissociates from dynein and microtubule See in Reactome