MONDO:0007759 |
LPL |
P06858 |
3.1.1.34
3.1.1.32
|
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-381340
R-HSA-381340
Reactome Name: Transcriptional regulation of white adipocyte differentiation
See in Reactome
R-HSA-8963901
R-HSA-975634
R-HSA-975634
Reactome Name: Retinoid metabolism and transport
See in Reactome
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
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-382551
R-HSA-9709957
R-HSA-1430728
R-HSA-8963899
R-HSA-1266738
|
Transport of small molecules
Sensory Perception
Metabolism
Developmental Biology
|
R-HSA-174757
(
R-HSA-8963901
)
R-HSA-174757
Reaction Name: chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols
See in Reactome
R-HSA-2395768
(
R-HSA-975634
)
R-HSA-2395768
Reaction Name: LPL hydrolyses TGs from mature CMs
See in Reactome
R-HSA-560498
(
R-HSA-381340
)
R-HSA-560498
Reaction Name: Expression of Lipoprotein lipase (LPL)
See in Reactome
R-HSA-6784628
(
R-HSA-8963889
)
R-HSA-6784628
Reaction Name: PCSK6,FURIN mediate dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer
See in Reactome
R-HSA-6784676
(
R-HSA-8963889
)
R-HSA-6784676
Reaction Name: PCSK5 mediates dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer
See in Reactome
R-HSA-6784861
(
R-HSA-8963889
)
R-HSA-8857928
(
R-HSA-8963889
)
|
MONDO:0009387 |
LPL |
P06858 |
3.1.1.34
3.1.1.32
|
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-381340
R-HSA-381340
Reactome Name: Transcriptional regulation of white adipocyte differentiation
See in Reactome
R-HSA-8963901
R-HSA-975634
R-HSA-975634
Reactome Name: Retinoid metabolism and transport
See in Reactome
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
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-382551
R-HSA-9709957
R-HSA-1430728
R-HSA-8963899
R-HSA-1266738
|
Transport of small molecules
Sensory Perception
Metabolism
Developmental Biology
|
R-HSA-174757
(
R-HSA-8963901
)
R-HSA-174757
Reaction Name: chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols
See in Reactome
R-HSA-2395768
(
R-HSA-975634
)
R-HSA-2395768
Reaction Name: LPL hydrolyses TGs from mature CMs
See in Reactome
R-HSA-560498
(
R-HSA-381340
)
R-HSA-560498
Reaction Name: Expression of Lipoprotein lipase (LPL)
See in Reactome
R-HSA-6784628
(
R-HSA-8963889
)
R-HSA-6784628
Reaction Name: PCSK6,FURIN mediate dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer
See in Reactome
R-HSA-6784676
(
R-HSA-8963889
)
R-HSA-6784676
Reaction Name: PCSK5 mediates dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer
See in Reactome
R-HSA-6784861
(
R-HSA-8963889
)
R-HSA-8857928
(
R-HSA-8963889
)
|
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: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:0013533 |
LIPC |
P11150 |
3.1.1.5
3.1.1.32
3.1.1.3
|
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8964026
|
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8964043
R-HSA-382551
R-HSA-8963899
|
Transport of small molecules
|
R-HSA-174657
(
R-HSA-8964026
)
R-HSA-174657
Reaction Name: chylomicron remnant:apoE complex + LDLR => chylomicron remnant:apoE:LDLR complex
See in Reactome
R-HSA-5694109
(
R-HSA-8963889
)
R-HSA-5694109
Reaction Name: LIPC dimer hydrolyses TAG to DAG and FA
See in Reactome
R-HSA-6785178
(
R-HSA-8963889
)
R-HSA-6785178
Reaction Name: LMF1,2 transport LIPC dimer from ER lumen to extracellular region
See in Reactome
R-HSA-6785181
(
R-HSA-8963889
)
R-HSA-6785213
(
R-HSA-8963889
)
|
MONDO:0014098 |
CIDEC |
Q96AQ7 |
-
|
R-HSA-8963889
R-HSA-8963889
Reactome Name: Assembly of active LPL and LIPC lipase complexes
See in Reactome
R-HSA-8964572
|
R-HSA-556833
R-HSA-1430728
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-8963899
R-HSA-382551
|
Metabolism
Transport of small molecules
|
R-HSA-8856630
(
R-HSA-8964572
)
R-HSA-8856630
Reaction Name: CIDEA:CIDEC binds lipid droplets
See in Reactome
|
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
)
|
MONDO:0032721 |
MBTPS1 |
Q14703 |
3.4.21.112
|
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-8874211
R-HSA-381033
R-HSA-381033
Reactome Name: ATF6 (ATF6-alpha) activates chaperones
See in Reactome
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-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
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-8953897
R-HSA-2262752
R-HSA-392499
R-HSA-1430728
R-HSA-8963899
R-HSA-382551
R-HSA-556833
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-8957322
|
Cellular responses to stimuli
Metabolism of proteins
Metabolism
Transport of small molecules
|
R-HSA-1655842
(
R-HSA-1655829
)
R-HSA-381135
(
R-HSA-381033
)
R-HSA-381135
Reaction Name: MBTPS1 (S1P) 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-8874186
(
R-HSA-8874211
)
R-HSA-8874204
(
R-HSA-8874211
)
R-HSA-8874205
(
R-HSA-8874211
)
R-HSA-8874206
(
R-HSA-8874211
)
R-HSA-8874212
(
R-HSA-8874211
)
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
|
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: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: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
)
|