MONDO:0005518 |
MONDO:0005518
Disease Name: pseudohermaphroditism
All associated enzymes in DAR:
HSD17B3
. The disease is also associated to other non-enzyme proteins (not in DAR).
HSD17B3 |
P37058 |
1.1.1.64
1.1.1.62
|
R-HSA-193048
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-196071
R-HSA-8957322
|
Metabolism
|
R-HSA-193064
(
R-HSA-193048
)
R-HSA-193064
Reaction Name: HSD17B3-like proteins reducde ANDST to TEST
See in Reactome
R-HSA-548818
(
R-HSA-75876
)
R-HSA-548818
Reaction Name: HSD17B3,12 hydrogenates 3OOD-CoA to 3HODC-CoA
See in Reactome
|
MONDO:0009916 |
HSD17B3 |
P37058 |
1.1.1.64
1.1.1.62
|
R-HSA-193048
R-HSA-75876
R-HSA-75876
Reactome Name: Synthesis of very long-chain fatty acyl-CoAs
See in Reactome
|
R-HSA-75105
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-196071
R-HSA-8957322
|
Metabolism
|
R-HSA-193064
(
R-HSA-193048
)
R-HSA-193064
Reaction Name: HSD17B3-like proteins reducde ANDST to TEST
See in Reactome
R-HSA-548818
(
R-HSA-75876
)
R-HSA-548818
Reaction Name: HSD17B3,12 hydrogenates 3OOD-CoA to 3HODC-CoA
See in Reactome
|
MONDO:0013664 |
AKR1C4 |
P17516 |
1.1.1.62
1.1.1.-
1.1.1.357
1.1.1.209
1.1.1.53
1.1.1.51
1.1.1.225
1.1.1.210
|
R-HSA-193807
R-HSA-193807
Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol
See in Reactome
R-HSA-193368
R-HSA-193368
Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
See in Reactome
R-HSA-975634
R-HSA-975634
Reactome Name: Retinoid metabolism and transport
See in Reactome
R-HSA-193775
R-HSA-193775
Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterol
See in Reactome
|
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
See in Reactome
R-HSA-2187338
R-HSA-6806667
R-HSA-6806667
Reactome Name: Metabolism of fat-soluble vitamins
See in Reactome
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-9709957
R-HSA-1430728
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-556833
R-HSA-8957322
|
Sensory Perception
Metabolism
|
R-HSA-192036
(
R-HSA-193368
)
R-HSA-192036
Reaction Name: 5Beta-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha, 12alpha-triol
See in Reactome
R-HSA-192160
(
R-HSA-193368
)
R-HSA-192160
Reaction Name: 5beta-cholestan-7alpha-ol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha-diol
See in Reactome
R-HSA-193758
(
R-HSA-193775
)
R-HSA-193758
Reaction Name: 5beta-cholestan-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,24(S)-triol
See in Reactome
R-HSA-193781
(
R-HSA-193775
)
R-HSA-193781
Reaction Name: 5Beta-cholestan-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol
See in Reactome
R-HSA-193800
(
R-HSA-193807
)
R-HSA-193800
Reaction Name: 5Beta-cholestan-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol
See in Reactome
R-HSA-193841
(
R-HSA-193807
)
R-HSA-193841
Reaction Name: 5beta-cholestan-7alpha,27-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,27-triol
See in Reactome
R-HSA-2855252
(
R-HSA-975634
)
R-HSA-2855252
Reaction Name: AKRs reduce RBP2:atRAL to RBP2:atROL
See in Reactome
|
MONDO:0013664 |
AKR1C2 |
P52895 |
1.3.1.20
1.1.1.62
1.1.1.357
1.1.1.112
1.-.-.-
1.1.1.209
1.1.1.53
|
R-HSA-193807
R-HSA-193807
Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol
See in Reactome
R-HSA-193368
R-HSA-193368
Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
See in Reactome
R-HSA-193775
R-HSA-193775
Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterol
See in Reactome
|
R-HSA-556833
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
See in Reactome
R-HSA-1430728
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-8957322
|
Metabolism
|
R-HSA-192036
(
R-HSA-193368
)
R-HSA-192036
Reaction Name: 5Beta-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha, 12alpha-triol
See in Reactome
R-HSA-192160
(
R-HSA-193368
)
R-HSA-192160
Reaction Name: 5beta-cholestan-7alpha-ol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha-diol
See in Reactome
R-HSA-193758
(
R-HSA-193775
)
R-HSA-193758
Reaction Name: 5beta-cholestan-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,24(S)-triol
See in Reactome
R-HSA-193781
(
R-HSA-193775
)
R-HSA-193781
Reaction Name: 5Beta-cholestan-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol
See in Reactome
R-HSA-193800
(
R-HSA-193807
)
R-HSA-193800
Reaction Name: 5Beta-cholestan-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol
See in Reactome
R-HSA-193841
(
R-HSA-193807
)
R-HSA-193841
Reaction Name: 5beta-cholestan-7alpha,27-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,27-triol
See in Reactome
|
MONDO:0018322 |
HSD17B10 |
Q99714 |
1.1.1.62
1.1.1.35
1.1.1.239
1.1.1.178
1.1.1.159
1.1.1.53
|
R-HSA-6785470
R-HSA-6785470
Reactome Name: tRNA processing in the mitochondrion
See in Reactome
R-HSA-70895
R-HSA-70895
Reactome Name: Branched-chain amino acid catabolism
See in Reactome
R-HSA-6787450
R-HSA-6787450
Reactome Name: tRNA modification in the mitochondrion
See in Reactome
R-HSA-8868766
R-HSA-8868766
Reactome Name: rRNA processing in the mitochondrion
See in Reactome
|
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-8953854
R-HSA-1430728
R-HSA-72312
R-HSA-72306
|
Metabolism of RNA
Metabolism
|
R-HSA-508369
(
R-HSA-70895
)
R-HSA-508369
Reaction Name: alpha-methylacetoacetyl-CoA + NADH + H+ <=> alpha-methyl-beta-hydroxybutyryl-CoA + NAD+
See in Reactome
R-HSA-6785722
(
R-HSA-6785470;
R-HSA-8868766
)
R-HSA-6785722
Reaction Name: Mitochondrial RNase P (mtRNase P) cleaves the 5' ends of pre-tRNAs and ELAC2 (RNase Z) cleaves the 3' ends of pre-tRNAs in the H strand transcript
See in Reactome
R-HSA-6786854
(
R-HSA-6785470
)
R-HSA-6786854
Reaction Name: Mitochondrial RNase P (mtRNase P) cleaves the 5' ends of pre-tRNAs and ELAC2 (RNase Z) cleaves the 3' ends of pre-tRNAs in the L strand transcript
See in Reactome
R-HSA-6787591
(
R-HSA-6787450
)
R-HSA-6787591
Reaction Name: TRMT10C:HSD17B10 (TRMT10C:SDR5C1) of mitochondrial RNase P methylates guanosine-9 in tRNA yielding 1-methylguanosine-9
See in Reactome
R-HSA-6787594
(
R-HSA-6787450
)
R-HSA-6787594
Reaction Name: TRMT10C:HSD17B10 (TRMT10C:SDR5C1) methylates adenosine-9 in tRNA yielding 1-methyladenosine-9
See in Reactome
R-HSA-70837
(
R-HSA-70895
)
R-HSA-70837
Reaction Name: alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ <=> alpha-methylacetoacetyl-CoA + NADH + H+
See in Reactome
|
MONDO:0018323 |
HSD17B10 |
Q99714 |
1.1.1.62
1.1.1.35
1.1.1.239
1.1.1.178
1.1.1.159
1.1.1.53
|
R-HSA-6785470
R-HSA-6785470
Reactome Name: tRNA processing in the mitochondrion
See in Reactome
R-HSA-70895
R-HSA-70895
Reactome Name: Branched-chain amino acid catabolism
See in Reactome
R-HSA-6787450
R-HSA-6787450
Reactome Name: tRNA modification in the mitochondrion
See in Reactome
R-HSA-8868766
R-HSA-8868766
Reactome Name: rRNA processing in the mitochondrion
See in Reactome
|
R-HSA-71291
R-HSA-71291
Reactome Name: Metabolism of amino acids and derivatives
See in Reactome
R-HSA-8953854
R-HSA-1430728
R-HSA-72312
R-HSA-72306
|
Metabolism of RNA
Metabolism
|
R-HSA-508369
(
R-HSA-70895
)
R-HSA-508369
Reaction Name: alpha-methylacetoacetyl-CoA + NADH + H+ <=> alpha-methyl-beta-hydroxybutyryl-CoA + NAD+
See in Reactome
R-HSA-6785722
(
R-HSA-6785470;
R-HSA-8868766
)
R-HSA-6785722
Reaction Name: Mitochondrial RNase P (mtRNase P) cleaves the 5' ends of pre-tRNAs and ELAC2 (RNase Z) cleaves the 3' ends of pre-tRNAs in the H strand transcript
See in Reactome
R-HSA-6786854
(
R-HSA-6785470
)
R-HSA-6786854
Reaction Name: Mitochondrial RNase P (mtRNase P) cleaves the 5' ends of pre-tRNAs and ELAC2 (RNase Z) cleaves the 3' ends of pre-tRNAs in the L strand transcript
See in Reactome
R-HSA-6787591
(
R-HSA-6787450
)
R-HSA-6787591
Reaction Name: TRMT10C:HSD17B10 (TRMT10C:SDR5C1) of mitochondrial RNase P methylates guanosine-9 in tRNA yielding 1-methylguanosine-9
See in Reactome
R-HSA-6787594
(
R-HSA-6787450
)
R-HSA-6787594
Reaction Name: TRMT10C:HSD17B10 (TRMT10C:SDR5C1) methylates adenosine-9 in tRNA yielding 1-methyladenosine-9
See in Reactome
R-HSA-70837
(
R-HSA-70895
)
R-HSA-70837
Reaction Name: alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ <=> alpha-methylacetoacetyl-CoA + NADH + H+
See in Reactome
|