MONDO:0003441 |
MONDO:0003441
Disease Name: dystonic disorder
All associated enzymes in DAR:
NPC1
. The disease is also associated to other non-enzyme proteins (not in DAR).
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0007750 |
PCSK9 |
Q8NBP7 |
3.4.21.-
|
R-HSA-381426
R-HSA-381426
Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
See in Reactome
R-HSA-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
See in Reactome
R-HSA-8866427
R-HSA-8866427
Reactome Name: VLDLR internalisation and degradation
See in Reactome
R-HSA-8964038
|
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-382551
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-392499
|
Transport of small molecules
Metabolism of proteins
|
R-HSA-6784729
(
R-HSA-8964038
)
R-HSA-6784729
Reaction Name: PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
See in Reactome
R-HSA-6784734
(
R-HSA-8964038
)
R-HSA-6784735
(
R-HSA-8964038
)
R-HSA-6784738
(
R-HSA-8964038
)
R-HSA-6784738
Reaction Name: Degradation of PCSK9:LDLR:Clathrin-coated vesicle
See in Reactome
R-HSA-8855111
(
R-HSA-8866427
)
R-HSA-8855130
(
R-HSA-8866427
)
R-HSA-8855130
Reaction Name: VLDLR:PCSK9:Clathrin-coated vesicle translocates from the plasma membrane to lysosomal membrane
See in Reactome
R-HSA-8855131
(
R-HSA-8866427
)
R-HSA-8855131
Reaction Name: VLDLR:PCSK9 binds Clathrin-coated vesicles
See in Reactome
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
|
MONDO:0009757 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0011369 |
PCSK9 |
Q8NBP7 |
3.4.21.-
|
R-HSA-381426
R-HSA-381426
Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
See in Reactome
R-HSA-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
See in Reactome
R-HSA-8866427
R-HSA-8866427
Reactome Name: VLDLR internalisation and degradation
See in Reactome
R-HSA-8964038
|
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-382551
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-392499
|
Transport of small molecules
Metabolism of proteins
|
R-HSA-6784729
(
R-HSA-8964038
)
R-HSA-6784729
Reaction Name: PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
See in Reactome
R-HSA-6784734
(
R-HSA-8964038
)
R-HSA-6784735
(
R-HSA-8964038
)
R-HSA-6784738
(
R-HSA-8964038
)
R-HSA-6784738
Reaction Name: Degradation of PCSK9:LDLR:Clathrin-coated vesicle
See in Reactome
R-HSA-8855111
(
R-HSA-8866427
)
R-HSA-8855130
(
R-HSA-8866427
)
R-HSA-8855130
Reaction Name: VLDLR:PCSK9:Clathrin-coated vesicle translocates from the plasma membrane to lysosomal membrane
See in Reactome
R-HSA-8855131
(
R-HSA-8866427
)
R-HSA-8855131
Reaction Name: VLDLR:PCSK9 binds Clathrin-coated vesicles
See in Reactome
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
|
MONDO:0011873 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0016306 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0016306 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0016307 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0016307 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0016308 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0016308 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0016309 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0016309 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0016310 |
NPC1 |
O15118 |
-
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8876484
(
R-HSA-8964038
)
R-HSA-8876485
(
R-HSA-8964038
)
R-HSA-8876485
Reaction Name: CHOL translocates from lysosome membrane to ER membrane
See in Reactome
|
MONDO:0016310 |
NPC2 |
P61916 |
-
|
R-HSA-6798695
R-HSA-8964038
|
R-HSA-168249
R-HSA-168256
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Immune System
Transport of small molecules
|
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8876472
(
R-HSA-8964038
)
R-HSA-8876484
(
R-HSA-8964038
)
|
MONDO:0018328 |
PCSK9 |
Q8NBP7 |
3.4.21.-
|
R-HSA-381426
R-HSA-381426
Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
See in Reactome
R-HSA-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
See in Reactome
R-HSA-8866427
R-HSA-8866427
Reactome Name: VLDLR internalisation and degradation
See in Reactome
R-HSA-8964038
|
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-382551
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-392499
|
Transport of small molecules
Metabolism of proteins
|
R-HSA-6784729
(
R-HSA-8964038
)
R-HSA-6784729
Reaction Name: PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
See in Reactome
R-HSA-6784734
(
R-HSA-8964038
)
R-HSA-6784735
(
R-HSA-8964038
)
R-HSA-6784738
(
R-HSA-8964038
)
R-HSA-6784738
Reaction Name: Degradation of PCSK9:LDLR:Clathrin-coated vesicle
See in Reactome
R-HSA-8855111
(
R-HSA-8866427
)
R-HSA-8855130
(
R-HSA-8866427
)
R-HSA-8855130
Reaction Name: VLDLR:PCSK9:Clathrin-coated vesicle translocates from the plasma membrane to lysosomal membrane
See in Reactome
R-HSA-8855131
(
R-HSA-8866427
)
R-HSA-8855131
Reaction Name: VLDLR:PCSK9 binds Clathrin-coated vesicles
See in Reactome
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
|
MONDO:0019148 |
LIPA |
P38571 |
3.1.1.13
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8865667
(
R-HSA-8964038
)
R-HSA-8865667
Reaction Name: LIPA hydrolyses sterol esters to sterols and fatty acids
See in Reactome
|
MONDO:0019149 |
LIPA |
P38571 |
3.1.1.13
|
R-HSA-8964038
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
|
Transport of small molecules
|
R-HSA-8865667
(
R-HSA-8964038
)
R-HSA-8865667
Reaction Name: LIPA hydrolyses sterol esters to sterols and fatty acids
See in Reactome
|