MONDO:0100296 |
MONDO:0100296
Disease Name: Olmsted syndrome 1
OMIM id: OMIM:614594
Orphanet id: Orphanet:659
All associated enzymes in DAR:
MBTPS2
. The disease is also associated to other non-enzyme proteins (not in DAR).
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|
MONDO:0049223 |
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|
MONDO:0010637 |
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|
MONDO:0100213 |
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|
MONDO:0010486 |
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|
MONDO:0019414 |
MONDO:0019414
Disease Name: BRESEK syndrome
OMIM id: OMIM:308205
Orphanet id: Orphanet:85284
All associated enzymes in DAR:
MBTPS2
. The disease is also associated to other non-enzyme proteins (not in DAR).
MBTPS2 |
O43462 |
3.4.24.85
|
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
|
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-2262752
R-HSA-382551
R-HSA-1430728
R-HSA-8963899
R-HSA-556833
R-HSA-8953897
R-HSA-8957322
|
Transport of small molecules
Metabolism
Cellular responses to stimuli
|
R-HSA-1655851
(
R-HSA-1655829
)
R-HSA-420818
(
R-HSA-381033
)
R-HSA-420818
Reaction Name: MBTPS2 (S2P) cleaves ATF6 (ATF6-alpha)
See in Reactome
R-HSA-6784620
(
R-HSA-8963889
)
R-HSA-6784620
Reaction Name: MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)
See in Reactome
R-HSA-8874187
(
R-HSA-8874211
)
R-HSA-8874192
(
R-HSA-8874211
)
R-HSA-8874194
(
R-HSA-8874211
)
R-HSA-8874195
(
R-HSA-8874211
)
R-HSA-8874201
(
R-HSA-8874211
)
|