DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0016815)

Number of enzymes:	13
Number of disease:	1
Number of reactomes:	9
Number of reactions:	20

Search results (Disease ID: MONDO:0016815)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0016815	NDUFS1	P28331	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788523 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788523 Reaction Name: NUBPL transfers 4Fe-4S to Complex I subunits See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6800870 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800870 Reaction Name: NDUF subunits bind to form the FP subcomplex See in Reactome
MONDO:0016815	FOXRED1	Q96CU9	1.-.-.-
MONDO:0016815	NDUFAF5	Q5TEU4	1.-.-.- 2.1.1.-	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome	R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799191 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799191 Reaction Name: Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6799197 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799197 Reaction Name: ND4, ND5 bind the 550kDa complex to form the 815kDa complex See in Reactome R-HSA-6799202 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799202 Reaction Name: The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex See in Reactome
MONDO:0016815	NDUFS8	O00217	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788523 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788523 Reaction Name: NUBPL transfers 4Fe-4S to Complex I subunits See in Reactome R-HSA-6799178 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799178 Reaction Name: Intermediate 1 binds HP subcomplex to form Intermediate 2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799191 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799191 Reaction Name: Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6799197 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799197 Reaction Name: ND4, ND5 bind the 550kDa complex to form the 815kDa complex See in Reactome R-HSA-6799202 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799202 Reaction Name: The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex See in Reactome R-HSA-6799203 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799203 Reaction Name: IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 See in Reactome R-HSA-6800868 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800868 Reaction Name: NDUF subunits bind to form the IP subcomplex See in Reactome
MONDO:0016815	MTFMT	Q96DP5	2.1.2.9	R-HSA-5368286 R-HSA-5368286 Reactome Name: Mitochondrial translation initiation See in Reactome	R-HSA-5368287 R-HSA-5368287 Reactome Name: Mitochondrial translation See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-72766 R-HSA-72766 Reactome Name: Translation See in Reactome	Metabolism of proteins	R-HSA-5389841 ( R-HSA-5368286 ) R-HSA-5389841 Reaction Name: MTFMT formylates methionyl-tRNA See in Reactome
MONDO:0016815	SDHA	P31040	1.3.5.1	R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome R-HSA-71403 R-HSA-71403 Reactome Name: Citric acid cycle (TCA cycle) See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-71406 R-HSA-71406 Reactome Name: Pyruvate metabolism and Citric Acid (TCA) cycle See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163213 ( R-HSA-611105 ) R-HSA-163213 Reaction Name: Transfer of electrons through the succinate dehydrogenase complex See in Reactome R-HSA-70994 ( R-HSA-71403 ) R-HSA-70994 Reaction Name: Succinate <=> Fumarate (with FAD redox reaction on enzyme) See in Reactome
MONDO:0016815	NDUFV2	P19404	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788556 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788556 Reaction Name: NUBPL transfers 4Fe-4S to NDUFV1, V2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6800870 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800870 Reaction Name: NDUF subunits bind to form the FP subcomplex See in Reactome
MONDO:0016815	NDUFS2	O75306	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788523 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788523 Reaction Name: NUBPL transfers 4Fe-4S to Complex I subunits See in Reactome R-HSA-6799178 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799178 Reaction Name: Intermediate 1 binds HP subcomplex to form Intermediate 2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799191 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799191 Reaction Name: Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6799197 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799197 Reaction Name: ND4, ND5 bind the 550kDa complex to form the 815kDa complex See in Reactome R-HSA-6799202 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799202 Reaction Name: The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex See in Reactome R-HSA-6799203 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799203 Reaction Name: IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 See in Reactome R-HSA-6800868 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800868 Reaction Name: NDUF subunits bind to form the IP subcomplex See in Reactome
MONDO:0016815	NDUFS7	O75251	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788523 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788523 Reaction Name: NUBPL transfers 4Fe-4S to Complex I subunits See in Reactome R-HSA-6799178 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799178 Reaction Name: Intermediate 1 binds HP subcomplex to form Intermediate 2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799191 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799191 Reaction Name: Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6799197 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799197 Reaction Name: ND4, ND5 bind the 550kDa complex to form the 815kDa complex See in Reactome R-HSA-6799202 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799202 Reaction Name: The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex See in Reactome R-HSA-6799203 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799203 Reaction Name: IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 See in Reactome R-HSA-6800868 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800868 Reaction Name: NDUF subunits bind to form the IP subcomplex See in Reactome
MONDO:0016815	NDUFS3	O75489	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome R-HSA-9013408 R-HSA-9013408 Reactome Name: RHOG GTPase cycle See in Reactome	R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome R-HSA-9012999 R-HSA-9012999 Reactome Name: RHO GTPase cycle See in Reactome R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-194315 R-HSA-194315 Reactome Name: Signaling by Rho GTPases See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism 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	Metabolism Signal Transduction	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6799178 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799178 Reaction Name: Intermediate 1 binds HP subcomplex to form Intermediate 2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799191 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799191 Reaction Name: Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6799197 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799197 Reaction Name: ND4, ND5 bind the 550kDa complex to form the 815kDa complex See in Reactome R-HSA-6799202 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799202 Reaction Name: The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex See in Reactome R-HSA-6799203 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799203 Reaction Name: IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 See in Reactome R-HSA-6800868 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800868 Reaction Name: NDUF subunits bind to form the IP subcomplex See in Reactome R-HSA-9014449 ( R-HSA-9013408 ) R-HSA-9014449 Reaction Name: RHOG binds effectors at the plasma membrane See in Reactome
MONDO:0016815	NDUFV1	P49821	7.1.1.2	R-HSA-6799198 R-HSA-6799198 Reactome Name: Complex I biogenesis See in Reactome R-HSA-611105 R-HSA-611105 Reactome Name: Respiratory electron transport See in Reactome	R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-163200 R-HSA-163200 Reactome Name: Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. See in Reactome	Metabolism	R-HSA-163217 ( R-HSA-611105 ) R-HSA-163217 Reaction Name: Complex I oxidises NADH to NAD+, reduces CoQ to QH2 See in Reactome R-HSA-6788556 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6788556 Reaction Name: NUBPL transfers 4Fe-4S to NDUFV1, V2 See in Reactome R-HSA-6799179 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799179 Reaction Name: Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex See in Reactome R-HSA-6799196 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6799196 Reaction Name: The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I See in Reactome R-HSA-6800870 ( R-HSA-611105; R-HSA-6799198 ) R-HSA-6800870 Reaction Name: NDUF subunits bind to form the FP subcomplex See in Reactome
MONDO:0016815	PDHA1	P08559	1.2.4.1	R-HSA-204174 R-HSA-204174 Reactome Name: Regulation of pyruvate dehydrogenase (PDH) complex See in Reactome R-HSA-389661 R-HSA-389661 Reactome Name: Glyoxylate metabolism and glycine degradation See in Reactome R-HSA-70268 R-HSA-70268 Reactome Name: Pyruvate metabolism See in Reactome R-HSA-5362517 R-HSA-5362517 Reactome Name: Signaling by Retinoic Acid See in Reactome	R-HSA-71406 R-HSA-71406 Reactome Name: Pyruvate metabolism and Citric Acid (TCA) cycle See in Reactome R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-9006931 R-HSA-9006931 Reactome Name: Signaling by Nuclear Receptors See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-1428517 R-HSA-1428517 Reactome Name: The citric acid (TCA) cycle and respiratory electron transport See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome	Metabolism Signal Transduction	R-HSA-203946 ( R-HSA-204174; R-HSA-5362517; R-HSA-70268 ) R-HSA-203946 Reaction Name: PDK isoforms phosphorylate lipo-PDH See in Reactome R-HSA-204169 ( R-HSA-204174; R-HSA-70268 ) R-HSA-204169 Reaction Name: PDP dephosphorylates p-lipo-PDH See in Reactome R-HSA-6792572 ( R-HSA-389661 ) R-HSA-6792572 Reaction Name: LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs See in Reactome R-HSA-71397 ( R-HSA-70268 ) R-HSA-71397 Reaction Name: lipo-PDH decarboxylates PYR to Ac-CoA See in Reactome
MONDO:0016815	LIPT1	Q9Y234	2.3.1.-	R-HSA-389661 R-HSA-389661 Reactome Name: Glyoxylate metabolism and glycine degradation See in Reactome	R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-6792572 ( R-HSA-389661 ) R-HSA-6792572 Reaction Name: LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs See in Reactome