Number of enzymes: | 12 |
Number of disease: | 31 |
Number of reactomes: | 83 |
Number of reactions: | 159 |
DiseaseID | Gene | UniProt | EC numbers | Reactomes | Expanded Reactomes | Reactome roots | Reactions |
---|---|---|---|---|---|---|---|
MONDO:0007088 | VCP | P55072 | 3.6.4.6 |
R-HSA-3371511 R-HSA-9646399 R-HSA-110320 R-HSA-382556 R-HSA-5689896 R-HSA-5358346 R-HSA-9013407 R-HSA-532668 R-HSA-532668Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycleSee in Reactome R-HSA-8876725 R-HSA-8866654 R-HSA-5689877 |
R-HSA-597592 R-HSA-9012999 R-HSA-168256 R-HSA-194315 R-HSA-382551 R-HSA-5358351 R-HSA-8953897 R-HSA-2262752 R-HSA-446203 R-HSA-9612973 R-HSA-168249 R-HSA-9663891 R-HSA-392499 R-HSA-110313 R-HSA-110313Reactome Name: Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateSee in Reactome R-HSA-1632852 R-HSA-5688426 R-HSA-3371556 R-HSA-73894 R-HSA-9716542 R-HSA-162582 R-HSA-73893 |
Immune System Transport of small molecules Cellular responses to stimuli Autophagy Metabolism of proteins DNA Repair Signal Transduction |
R-HSA-5324632
(
R-HSA-3371511
) R-HSA-5324632Reaction Name: Dissociation of cytosolic HSF1:HSP90:HDAC6:PTGES3 upon sensing protein aggregatesSee in Reactome R-HSA-5362441 ( R-HSA-5358346 ) R-HSA-5362441Reaction Name: C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membraneSee in Reactome R-HSA-5362459Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosolSee in Reactome R-HSA-5654985Reaction Name: SPRTN recruits VCP to monoUb:K164-PCNA associated with POLHSee in Reactome R-HSA-5654989Reaction Name: SPRTN:VCP-mediated release of POLH from monoUb:K164-PCNASee in Reactome R-HSA-6781953 ( R-HSA-5689896 ) R-HSA-6798748 ( R-HSA-6798695 ) R-HSA-6798751 ( R-HSA-6798695 ) R-HSA-6800434 ( R-HSA-6798695 ) R-HSA-8850594 ( R-HSA-532668 ) R-HSA-8850594Reaction Name: Deglycosylation complex hydrolyses N-glycans from unfolded glycoproteinsSee in Reactome R-HSA-8866542Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosolSee in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradationSee in Reactome R-HSA-8943080 ( R-HSA-8866654 ) R-HSA-8943080Reaction Name: TMEM129 polyubiquitinates HLA (MHC class I heavy chain) bound to cytomegalovirus US11See in Reactome R-HSA-9018758 ( R-HSA-9013407 ) R-HSA-9646347 ( R-HSA-9646399 ) R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complexSee in Reactome R-HSA-9755507Reaction Name: UBXN7:UBF1:NPLOC4:VCP hexamer binds NFE2L2:CRL3 complexSee in Reactome R-HSA-9758090 () R-HSA-9758090Reaction Name: Ubiquitinated NFE2L2 is extracted from CRL3 complex for degradationSee in Reactome |
MONDO:0007932 | ABCA4 | P78363 | 7.6.2.1 |
R-HSA-382556 R-HSA-2453902 |
R-HSA-9709957 R-HSA-2187338 R-HSA-382551 |
Sensory Perception Transport of small molecules |
R-HSA-1467466
(
R-HSA-2453902;
R-HSA-382556
) R-HSA-2466749 ( R-HSA-2453902 ) R-HSA-2466749Reaction Name: ABCA4 transports NRPE from photoreceptor outer segment membrane to cytosolSee in Reactome |
MONDO:0008178 | VCP | P55072 | 3.6.4.6 |
R-HSA-3371511 R-HSA-9646399 R-HSA-110320 R-HSA-382556 R-HSA-5689896 R-HSA-5358346 R-HSA-9013407 R-HSA-532668 R-HSA-532668Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycleSee in Reactome R-HSA-8876725 R-HSA-8866654 R-HSA-5689877 |
R-HSA-597592 R-HSA-9012999 R-HSA-168256 R-HSA-194315 R-HSA-382551 R-HSA-5358351 R-HSA-8953897 R-HSA-2262752 R-HSA-446203 R-HSA-9612973 R-HSA-168249 R-HSA-9663891 R-HSA-392499 R-HSA-110313 R-HSA-110313Reactome Name: Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateSee in Reactome R-HSA-1632852 R-HSA-5688426 R-HSA-3371556 R-HSA-73894 R-HSA-9716542 R-HSA-162582 R-HSA-73893 |
Immune System Transport of small molecules Cellular responses to stimuli Autophagy Metabolism of proteins DNA Repair Signal Transduction |
R-HSA-5324632
(
R-HSA-3371511
) R-HSA-5324632Reaction Name: Dissociation of cytosolic HSF1:HSP90:HDAC6:PTGES3 upon sensing protein aggregatesSee in Reactome R-HSA-5362441 ( R-HSA-5358346 ) R-HSA-5362441Reaction Name: C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membraneSee in Reactome R-HSA-5362459Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosolSee in Reactome R-HSA-5654985Reaction Name: SPRTN recruits VCP to monoUb:K164-PCNA associated with POLHSee in Reactome R-HSA-5654989Reaction Name: SPRTN:VCP-mediated release of POLH from monoUb:K164-PCNASee in Reactome R-HSA-6781953 ( R-HSA-5689896 ) R-HSA-6798748 ( R-HSA-6798695 ) R-HSA-6798751 ( R-HSA-6798695 ) R-HSA-6800434 ( R-HSA-6798695 ) R-HSA-8850594 ( R-HSA-532668 ) R-HSA-8850594Reaction Name: Deglycosylation complex hydrolyses N-glycans from unfolded glycoproteinsSee in Reactome R-HSA-8866542Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosolSee in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradationSee in Reactome R-HSA-8943080 ( R-HSA-8866654 ) R-HSA-8943080Reaction Name: TMEM129 polyubiquitinates HLA (MHC class I heavy chain) bound to cytomegalovirus US11See in Reactome R-HSA-9018758 ( R-HSA-9013407 ) R-HSA-9646347 ( R-HSA-9646399 ) R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complexSee in Reactome R-HSA-9755507Reaction Name: UBXN7:UBF1:NPLOC4:VCP hexamer binds NFE2L2:CRL3 complexSee in Reactome R-HSA-9758090 () R-HSA-9758090Reaction Name: Ubiquitinated NFE2L2 is extracted from CRL3 complex for degradationSee in Reactome |
MONDO:0008185 | CFTR | P13569 | 5.6.1.6 |
R-HSA-9613829 R-HSA-8856828 R-HSA-382556 R-HSA-8856825 R-HSA-9615710 R-HSA-5689880 R-HSA-5627083 R-HSA-9646399 R-HSA-9013406 |
R-HSA-1632852 R-HSA-195258 R-HSA-9612973 R-HSA-9012999 R-HSA-5688426 R-HSA-194315 R-HSA-382551 R-HSA-9663891 R-HSA-199991 R-HSA-392499 R-HSA-597592 R-HSA-9716542 R-HSA-162582 R-HSA-5653656 |
Autophagy Transport of small molecules Metabolism of proteins Signal Transduction Vesicle-mediated transport |
R-HSA-1454916
(
R-HSA-382556
) R-HSA-383190 ( R-HSA-382556 ) R-HSA-5627071 ( R-HSA-5627083 ) R-HSA-5627071Reaction Name: RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membraneSee in Reactome R-HSA-5627275 ( R-HSA-5627083 ) R-HSA-5678863 ( R-HSA-382556 ) R-HSA-5678863Reaction Name: CFTR transports Cl- from cytosol to extracellular regionSee in Reactome R-HSA-8866277 ( R-HSA-8856825; R-HSA-8856828 ) R-HSA-8866542 ( R-HSA-382556 ) R-HSA-8866542Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosolSee in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradationSee in Reactome R-HSA-8866851 ( R-HSA-382556 ) R-HSA-8867754 ( R-HSA-8856828 ) R-HSA-8867754Reaction Name: F- and N- BAR domain proteins bind the clathrin-coated pitSee in Reactome R-HSA-8867756Reaction Name: CLASP proteins and cargo are recruited to the nascent clathrin-coated pitSee in Reactome R-HSA-8868072 ( R-HSA-8856828 ) R-HSA-8868072Reaction Name: Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2See in Reactome R-HSA-8868230Reaction Name: SNX9 recruits components of the actin polymerizing machinerySee in Reactome R-HSA-8868648 ( R-HSA-8856828 ) R-HSA-8868651 ( R-HSA-8856828 ) R-HSA-8868651Reaction Name: Endophilins recruit synaptojanins to the clathrin-coated pitSee in Reactome R-HSA-8868658Reaction Name: HSPA8-mediated ATP hydrolysis promotes vesicle uncoatingSee in Reactome R-HSA-8868659Reaction Name: Clathrin recruits auxilins to the clathrin-coated vesicleSee in Reactome R-HSA-8868660Reaction Name: Auxilin recruits HSPA8:ATP to the clathrin-coated vesicleSee in Reactome R-HSA-8868661Reaction Name: Dynamin-mediated GTP hydrolysis promotes vesicle scissionSee in Reactome R-HSA-8871193 ( R-HSA-8856828 ) R-HSA-8871194 ( R-HSA-8856828 ) R-HSA-9615721 ( R-HSA-9613829; R-HSA-9615710 ) R-HSA-9620197 ( R-HSA-9613829 ) R-HSA-9622831 ( R-HSA-9613829 ) R-HSA-9622840 ( R-HSA-9613829 ) R-HSA-9624158 ( R-HSA-9613829 ) R-HSA-9625188 ( R-HSA-9613829 ) R-HSA-9625188Reaction Name: HSPA8 transports unfolded substrate to lysosomal lumen for degradationSee in Reactome R-HSA-9625196Reaction Name: Unfolded substrate in LAMP2a multimeric complex binds HSPA8See in Reactome R-HSA-9626060 ( R-HSA-9613829 ) R-HSA-9631065 ( R-HSA-9615710 ) R-HSA-9631068 ( R-HSA-9615710 ) R-HSA-9641109 ( R-HSA-9646399 ) R-HSA-9641109Reaction Name: PolyUb:misfolded proteins dissociate from PRKN:UBE2N:UBE2V1See in Reactome R-HSA-9641127 ( R-HSA-9646399 ) R-HSA-9641127Reaction Name: Ub:misfolded proteins polymerize to PolyUb:misfolded proteinsSee in Reactome R-HSA-9646348 ( R-HSA-9646399 ) R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complexSee in Reactome R-HSA-9646390 ( R-HSA-9646399 ) R-HSA-9646390Reaction Name: Misfolded proteins:HDAC6:Dynein motor binds microtubuleSee in Reactome R-HSA-9646679Reaction Name: PolyUb-Misfolded proteins bind vimentin to form aggresomeSee in Reactome |
MONDO:0008333 | ABCC6 | O95255 |
7.6.2.3 7.6.2.- |
R-HSA-382556 | R-HSA-382551 | Transport of small molecules | R-HSA-1454916 ( R-HSA-382556 ) |
MONDO:0008887 | CFTR | P13569 | 5.6.1.6 |
R-HSA-9613829 R-HSA-8856828 R-HSA-382556 R-HSA-8856825 R-HSA-9615710 R-HSA-5689880 R-HSA-5627083 R-HSA-9646399 R-HSA-9013406 |
R-HSA-1632852 R-HSA-195258 R-HSA-9612973 R-HSA-9012999 R-HSA-5688426 R-HSA-194315 R-HSA-382551 R-HSA-9663891 R-HSA-199991 R-HSA-392499 R-HSA-597592 R-HSA-9716542 R-HSA-162582 R-HSA-5653656 |
Autophagy Transport of small molecules Metabolism of proteins Signal Transduction Vesicle-mediated transport |
R-HSA-1454916
(
R-HSA-382556
) R-HSA-383190 ( R-HSA-382556 ) R-HSA-5627071 ( R-HSA-5627083 ) R-HSA-5627071Reaction Name: RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membraneSee in Reactome R-HSA-5627275 ( R-HSA-5627083 ) R-HSA-5678863 ( R-HSA-382556 ) R-HSA-5678863Reaction Name: CFTR transports Cl- from cytosol to extracellular regionSee in Reactome R-HSA-8866277 ( R-HSA-8856825; R-HSA-8856828 ) R-HSA-8866542 ( R-HSA-382556 ) R-HSA-8866542Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosolSee in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradationSee in Reactome R-HSA-8866851 ( R-HSA-382556 ) R-HSA-8867754 ( R-HSA-8856828 ) R-HSA-8867754Reaction Name: F- and N- BAR domain proteins bind the clathrin-coated pitSee in Reactome R-HSA-8867756Reaction Name: CLASP proteins and cargo are recruited to the nascent clathrin-coated pitSee in Reactome R-HSA-8868072 ( R-HSA-8856828 ) R-HSA-8868072Reaction Name: Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2See in Reactome R-HSA-8868230Reaction Name: SNX9 recruits components of the actin polymerizing machinerySee in Reactome R-HSA-8868648 ( R-HSA-8856828 ) R-HSA-8868651 ( R-HSA-8856828 ) R-HSA-8868651Reaction Name: Endophilins recruit synaptojanins to the clathrin-coated pitSee in Reactome R-HSA-8868658Reaction Name: HSPA8-mediated ATP hydrolysis promotes vesicle uncoatingSee in Reactome R-HSA-8868659Reaction Name: Clathrin recruits auxilins to the clathrin-coated vesicleSee in Reactome R-HSA-8868660Reaction Name: Auxilin recruits HSPA8:ATP to the clathrin-coated vesicleSee in Reactome R-HSA-8868661Reaction Name: Dynamin-mediated GTP hydrolysis promotes vesicle scissionSee in Reactome R-HSA-8871193 ( R-HSA-8856828 ) R-HSA-8871194 ( R-HSA-8856828 ) R-HSA-9615721 ( R-HSA-9613829; R-HSA-9615710 ) R-HSA-9620197 ( R-HSA-9613829 ) R-HSA-9622831 ( R-HSA-9613829 ) R-HSA-9622840 ( R-HSA-9613829 ) R-HSA-9624158 ( R-HSA-9613829 ) R-HSA-9625188 ( R-HSA-9613829 ) R-HSA-9625188Reaction Name: HSPA8 transports unfolded substrate to lysosomal lumen for degradationSee in Reactome R-HSA-9625196Reaction Name: Unfolded substrate in LAMP2a multimeric complex binds HSPA8See in Reactome R-HSA-9626060 ( R-HSA-9613829 ) R-HSA-9631065 ( R-HSA-9615710 ) R-HSA-9631068 ( R-HSA-9615710 ) R-HSA-9641109 ( R-HSA-9646399 ) R-HSA-9641109Reaction Name: PolyUb:misfolded proteins dissociate from PRKN:UBE2N:UBE2V1See in Reactome R-HSA-9641127 ( R-HSA-9646399 ) R-HSA-9641127Reaction Name: Ub:misfolded proteins polymerize to PolyUb:misfolded proteinsSee in Reactome R-HSA-9646348 ( R-HSA-9646399 ) R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complexSee in Reactome R-HSA-9646390 ( R-HSA-9646399 ) R-HSA-9646390Reaction Name: Misfolded proteins:HDAC6:Dynein motor binds microtubuleSee in Reactome R-HSA-9646679Reaction Name: PolyUb-Misfolded proteins bind vimentin to form aggresomeSee in Reactome |
MONDO:0009061 | CFTR | P13569 | 5.6.1.6 |
R-HSA-9613829 R-HSA-8856828 R-HSA-382556 R-HSA-8856825 R-HSA-9615710 R-HSA-5689880 R-HSA-5627083 R-HSA-9646399 R-HSA-9013406 |
R-HSA-1632852 R-HSA-195258 R-HSA-9612973 R-HSA-9012999 R-HSA-5688426 R-HSA-194315 R-HSA-382551 R-HSA-9663891 R-HSA-199991 R-HSA-392499 R-HSA-597592 R-HSA-9716542 R-HSA-162582 R-HSA-5653656 |
Autophagy Transport of small molecules Metabolism of proteins Signal Transduction Vesicle-mediated transport |
R-HSA-1454916
(
R-HSA-382556
) R-HSA-383190 ( R-HSA-382556 ) R-HSA-5627071 ( R-HSA-5627083 ) R-HSA-5627071Reaction Name: RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membraneSee in Reactome R-HSA-5627275 ( R-HSA-5627083 ) R-HSA-5678863 ( R-HSA-382556 ) R-HSA-5678863Reaction Name: CFTR transports Cl- from cytosol to extracellular regionSee in Reactome R-HSA-8866277 ( R-HSA-8856825; R-HSA-8856828 ) R-HSA-8866542 ( R-HSA-382556 ) R-HSA-8866542Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosolSee in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradationSee in Reactome R-HSA-8866851 ( R-HSA-382556 ) R-HSA-8867754 ( R-HSA-8856828 ) R-HSA-8867754Reaction Name: F- and N- BAR domain proteins bind the clathrin-coated pitSee in Reactome R-HSA-8867756Reaction Name: CLASP proteins and cargo are recruited to the nascent clathrin-coated pitSee in Reactome R-HSA-8868072 ( R-HSA-8856828 ) R-HSA-8868072Reaction Name: Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2See in Reactome R-HSA-8868230Reaction Name: SNX9 recruits components of the actin polymerizing machinerySee in Reactome R-HSA-8868648 ( R-HSA-8856828 ) R-HSA-8868651 ( R-HSA-8856828 ) R-HSA-8868651Reaction Name: Endophilins recruit synaptojanins to the clathrin-coated pitSee in Reactome R-HSA-8868658Reaction Name: HSPA8-mediated ATP hydrolysis promotes vesicle uncoatingSee in Reactome R-HSA-8868659Reaction Name: Clathrin recruits auxilins to the clathrin-coated vesicleSee in Reactome R-HSA-8868660Reaction Name: Auxilin recruits HSPA8:ATP to the clathrin-coated vesicleSee in Reactome R-HSA-8868661Reaction Name: Dynamin-mediated GTP hydrolysis promotes vesicle scissionSee in Reactome R-HSA-8871193 ( R-HSA-8856828 ) R-HSA-8871194 ( R-HSA-8856828 ) R-HSA-9615721 ( R-HSA-9613829; R-HSA-9615710 ) R-HSA-9620197 ( R-HSA-9613829 ) R-HSA-9622831 ( R-HSA-9613829 ) R-HSA-9622840 ( R-HSA-9613829 ) R-HSA-9624158 ( R-HSA-9613829 ) R-HSA-9625188 ( R-HSA-9613829 ) R-HSA-9625188Reaction Name: HSPA8 transports unfolded substrate to lysosomal lumen for degradationSee in Reactome R-HSA-9625196Reaction Name: Unfolded substrate in LAMP2a multimeric complex binds HSPA8See in Reactome R-HSA-9626060 ( R-HSA-9613829 ) R-HSA-9631065 ( R-HSA-9615710 ) R-HSA-9631068 ( R-HSA-9615710 ) R-HSA-9641109 ( R-HSA-9646399 ) R-HSA-9641109Reaction Name: PolyUb:misfolded proteins dissociate from PRKN:UBE2N:UBE2V1See in Reactome R-HSA-9641127 ( R-HSA-9646399 ) R-HSA-9641127Reaction Name: Ub:misfolded proteins polymerize to PolyUb:misfolded proteinsSee in Reactome R-HSA-9646348 ( R-HSA-9646399 ) R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complexSee in Reactome R-HSA-9646390 ( R-HSA-9646399 ) R-HSA-9646390Reaction Name: Misfolded proteins:HDAC6:Dynein motor binds microtubuleSee in Reactome R-HSA-9646679Reaction Name: PolyUb-Misfolded proteins bind vimentin to form aggresomeSee in Reactome |
MONDO:0009380 | ABCC2 | Q92887 |
7.6.2.2 7.6.2.3 7.6.2.- |
R-HSA-382556 R-HSA-189483 |
R-HSA-1430728 R-HSA-382551 R-HSA-189445 |
Metabolism Transport of small molecules |
R-HSA-1454916
(
R-HSA-382556
) R-HSA-5679041 ( R-HSA-189483 ) R-HSA-5679041Reaction Name: ABCC2 transports BMG,BDG from cytosol to extracellular regionSee in Reactome |
MONDO:0009549 | ABCA4 | P78363 | 7.6.2.1 |
R-HSA-382556 R-HSA-2453902 |
R-HSA-9709957 R-HSA-2187338 R-HSA-382551 |
Sensory Perception Transport of small molecules |
R-HSA-1467466
(
R-HSA-2453902;
R-HSA-382556
) R-HSA-2466749 ( R-HSA-2453902 ) R-HSA-2466749Reaction Name: ABCA4 transports NRPE from photoreceptor outer segment membrane to cytosolSee in Reactome |
MONDO:0009559 | ABCA4 | P78363 | 7.6.2.1 |
R-HSA-382556 R-HSA-2453902 |
R-HSA-9709957 R-HSA-2187338 R-HSA-382551 |
Sensory Perception Transport of small molecules |
R-HSA-1467466
(
R-HSA-2453902;
R-HSA-382556
) R-HSA-2466749 ( R-HSA-2453902 ) R-HSA-2466749Reaction Name: ABCA4 transports NRPE from photoreceptor outer segment membrane to cytosolSee in Reactome |