Number of enzymes: | 14 |
Number of disease: | 22 |
Number of reactomes: | 17 |
Number of reactions: | 65 |
DiseaseID | Gene | UniProt | EC numbers | Reactomes | Expanded Reactomes | Reactome roots | Reactions |
---|---|---|---|---|---|---|---|
MONDO:0001071 | CYP27A1 | Q02318 | 1.14.15.15 |
R-HSA-211976 R-HSA-193807 R-HSA-193807Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterolSee in Reactome R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-193775Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterolSee in Reactome |
R-HSA-194068 R-HSA-211859 R-HSA-211897 R-HSA-211945 R-HSA-1430728 R-HSA-192105 R-HSA-556833 R-HSA-8957322 |
Metabolism |
R-HSA-191999
(
R-HSA-193368
) R-HSA-192042 ( R-HSA-193368 ) R-HSA-192042Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-192054Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoate (THCA)See in Reactome R-HSA-193393 ( R-HSA-193368 ) R-HSA-193393Reaction Name: 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triolSee in Reactome R-HSA-193460Reaction Name: 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestanoate (DHCA)See in Reactome R-HSA-193497Reaction Name: 5beta-cholestan-3alpha, 7alpha, 26-triol is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-alSee in Reactome R-HSA-193713Reaction Name: 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestanoate (TetraHCA)See in Reactome R-HSA-193719Reaction Name: 5beta-cholestan-3alpha,7alpha,24(S),27-tetrol is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-193737Reaction Name: 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestanoate (3,7,24THCA)See in Reactome R-HSA-193780Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S),27-pentol is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-193787Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentolSee in Reactome |
MONDO:0007781 | PTGIS | Q16647 |
4.2.1.152 5.3.99.4 |
R-HSA-197264 R-HSA-193807 R-HSA-193807Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterolSee in Reactome R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-193775Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterolSee in Reactome R-HSA-211979 |
R-HSA-196807 R-HSA-211897 R-HSA-211859 R-HSA-196854 R-HSA-194068 R-HSA-211945 R-HSA-211976 R-HSA-8978868 R-HSA-192105 R-HSA-2142753 R-HSA-556833 R-HSA-1430728 R-HSA-196849 R-HSA-8957322 |
Metabolism |
R-HSA-192157
(
R-HSA-192105;
R-HSA-193368;
R-HSA-211976;
R-HSA-211994
) R-HSA-193709 ( R-HSA-192105; R-HSA-193775; R-HSA-211976; R-HSA-211994 ) R-HSA-193845 ( R-HSA-192105; R-HSA-193807; R-HSA-211976; R-HSA-211994 ) R-HSA-76496 ( R-HSA-197264; R-HSA-211979; R-HSA-2162123 ) |
MONDO:0008948 | CYP27A1 | Q02318 | 1.14.15.15 |
R-HSA-211976 R-HSA-193807 R-HSA-193807Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterolSee in Reactome R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-193775Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterolSee in Reactome |
R-HSA-194068 R-HSA-211859 R-HSA-211897 R-HSA-211945 R-HSA-1430728 R-HSA-192105 R-HSA-556833 R-HSA-8957322 |
Metabolism |
R-HSA-191999
(
R-HSA-193368
) R-HSA-192042 ( R-HSA-193368 ) R-HSA-192042Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-192054Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoate (THCA)See in Reactome R-HSA-193393 ( R-HSA-193368 ) R-HSA-193393Reaction Name: 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triolSee in Reactome R-HSA-193460Reaction Name: 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestanoate (DHCA)See in Reactome R-HSA-193497Reaction Name: 5beta-cholestan-3alpha, 7alpha, 26-triol is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-alSee in Reactome R-HSA-193713Reaction Name: 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestanoate (TetraHCA)See in Reactome R-HSA-193719Reaction Name: 5beta-cholestan-3alpha,7alpha,24(S),27-tetrol is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-193737Reaction Name: 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestanoate (3,7,24THCA)See in Reactome R-HSA-193780Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S),27-pentol is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-alSee in Reactome R-HSA-193787Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentolSee in Reactome |
MONDO:0008967 | AMACR | Q9UHK6 | 5.1.99.4 |
R-HSA-9033241 R-HSA-389887 R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-193775Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterolSee in Reactome |
R-HSA-194068 R-HSA-9609507 R-HSA-390918 R-HSA-1430728 R-HSA-8978868 R-HSA-192105 R-HSA-556833 R-HSA-8957322 |
Protein localization Metabolism |
R-HSA-192056
(
R-HSA-192105;
R-HSA-193368
) R-HSA-193452 ( R-HSA-192105; R-HSA-193368 ) R-HSA-193736 ( R-HSA-192105; R-HSA-193775 ) R-HSA-193736Reaction Name: Isomerization of 3,7,24THCA-CoA to (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-193763Reaction Name: Isomerization of 25(R) TetraHCA-CoA to (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-389897Reaction Name: Isomerization of (2R)-pristanoyl-CoA to (2S)-pristanoyl-CoASee in Reactome R-HSA-9033233 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235Reaction Name: Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrixSee in Reactome R-HSA-9033236 ( R-HSA-9033241 ) R-HSA-9033236Reaction Name: PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)See in Reactome |
MONDO:0009300 | HSD17B4 | P51659 |
1.1.1.n12 4.2.1.119 4.2.1.107 |
R-HSA-389887 R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-390247 R-HSA-9033500 R-HSA-9033241 |
R-HSA-194068 R-HSA-9609507 R-HSA-390918 R-HSA-2046104 R-HSA-2046104Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolismSee in Reactome R-HSA-8978868 R-HSA-192105 R-HSA-556833 R-HSA-8957322 |
Protein localization Metabolism |
R-HSA-192331
(
R-HSA-193368
) R-HSA-192331Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA (THCA-CoA) is hydrated to (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-193455Reaction Name: (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-one-CoASee in Reactome R-HSA-193508Reaction Name: (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha-dihydroxy-5beta-cholest-24-one-CoASee in Reactome R-HSA-193535Reaction Name: 25(S) 3alpha,7alpha-dihydroxy-5beta-cholest-24-enoyl-CoA is hydrated to (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-2066778Reaction Name: Hydration of delta2-tetracosaheptaenoyl-CoA to 3-hydroxy tetracosahexaenoyl-CoASee in Reactome R-HSA-389986 ( R-HSA-389887 ) R-HSA-389986Reaction Name: trans-2,3-dehydropristanoyl-CoA + H2O => 3-hydroxypristanoyl-CoASee in Reactome R-HSA-389995Reaction Name: 3-hydroxypristanoyl-CoA + NAD+ => 3-ketoxypristanoyl-CoA + NADH + H+See in Reactome R-HSA-390252 ( R-HSA-390247 ) R-HSA-9033233 ( R-HSA-9033241 ) R-HSA-9033233 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235Reaction Name: Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrixSee in Reactome R-HSA-9033236 ( R-HSA-9033241 ) R-HSA-9033236Reaction Name: PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)See in Reactome |
MONDO:0009339 | AKR1D1 | P51857 | 1.3.1.3 |
R-HSA-193807 R-HSA-193807Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterolSee in Reactome R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-193775Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterolSee in Reactome |
R-HSA-556833 R-HSA-194068 R-HSA-1430728 R-HSA-192105 R-HSA-8957322 |
Metabolism |
R-HSA-192033
(
R-HSA-192105;
R-HSA-193368
) R-HSA-192033Reaction Name: 4-cholesten-7alpha-ol-3-one is reduced to 5beta-cholestan-7alpha-ol-3-oneSee in Reactome R-HSA-192067Reaction Name: 4-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholesten-7alpha, 12alpha-diol-3-oneSee in Reactome R-HSA-193746Reaction Name: 4-cholesten-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-7alpha,24(S)-diol-3-oneSee in Reactome R-HSA-193755Reaction Name: 4-cholesten-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-7alpha,12alpha,24(S)-triol-3-oneSee in Reactome R-HSA-193821Reaction Name: 4-cholesten-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-7alpha,12alpha,27-triol-3-oneSee in Reactome R-HSA-193824Reaction Name: 4-cholesten-7alpha,27-diol-3-one is reduced to 5beta-cholestan-7alpha,27-diol-3-oneSee in Reactome |
MONDO:0009855 | HSD17B4 | P51659 |
1.1.1.n12 4.2.1.119 4.2.1.107 |
R-HSA-389887 R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome R-HSA-390247 R-HSA-9033500 R-HSA-9033241 |
R-HSA-194068 R-HSA-9609507 R-HSA-390918 R-HSA-2046104 R-HSA-2046104Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolismSee in Reactome R-HSA-8978868 R-HSA-192105 R-HSA-556833 R-HSA-8957322 |
Protein localization Metabolism |
R-HSA-192331
(
R-HSA-193368
) R-HSA-192331Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA (THCA-CoA) is hydrated to (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-193455Reaction Name: (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-one-CoASee in Reactome R-HSA-193508Reaction Name: (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha-dihydroxy-5beta-cholest-24-one-CoASee in Reactome R-HSA-193535Reaction Name: 25(S) 3alpha,7alpha-dihydroxy-5beta-cholest-24-enoyl-CoA is hydrated to (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoASee in Reactome R-HSA-2066778Reaction Name: Hydration of delta2-tetracosaheptaenoyl-CoA to 3-hydroxy tetracosahexaenoyl-CoASee in Reactome R-HSA-389986 ( R-HSA-389887 ) R-HSA-389986Reaction Name: trans-2,3-dehydropristanoyl-CoA + H2O => 3-hydroxypristanoyl-CoASee in Reactome R-HSA-389995Reaction Name: 3-hydroxypristanoyl-CoA + NAD+ => 3-ketoxypristanoyl-CoA + NADH + H+See in Reactome R-HSA-390252 ( R-HSA-390247 ) R-HSA-9033233 ( R-HSA-9033241 ) R-HSA-9033233 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235 ( R-HSA-9033241 ) R-HSA-9033235Reaction Name: Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrixSee in Reactome R-HSA-9033236 ( R-HSA-9033241 ) R-HSA-9033236Reaction Name: PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)See in Reactome |
MONDO:0010047 | CYP7B1 | O75881 |
1.14.14.26 1.14.14.29 |
R-HSA-211976 R-HSA-193807 R-HSA-193807Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterolSee in Reactome R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome |
R-HSA-194068 R-HSA-211859 R-HSA-211897 R-HSA-211945 R-HSA-1430728 R-HSA-556833 R-HSA-8957322 |
Metabolism |
R-HSA-191972
(
R-HSA-192105;
R-HSA-193807
) R-HSA-192051 ( R-HSA-192105; R-HSA-193368; R-HSA-211976 ) R-HSA-192065 ( R-HSA-192105; R-HSA-211976 ) |
MONDO:0011156 | ABCB11 | O95342 | 7.6.2.- |
R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome |
R-HSA-556833 R-HSA-194068 R-HSA-1430728 R-HSA-192105 R-HSA-8957322 |
Metabolism |
R-HSA-193362
(
R-HSA-159418;
R-HSA-192105;
R-HSA-193368
)
R-HSA-193362Reaction Name: ABCB11 transports bile salts from cytosol to extracellular regionSee in Reactome |
MONDO:0011214 | ABCB11 | O95342 | 7.6.2.- |
R-HSA-193368 R-HSA-193368Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolSee in Reactome |
R-HSA-556833 R-HSA-194068 R-HSA-1430728 R-HSA-192105 R-HSA-8957322 |
Metabolism |
R-HSA-193362
(
R-HSA-159418;
R-HSA-192105;
R-HSA-193368
)
R-HSA-193362Reaction Name: ABCB11 transports bile salts from cytosol to extracellular regionSee in Reactome |