MONDO:0018998 |
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|
MONDO:0008944 |
MONDO:0008944
Disease Name: Joubert syndrome 1
OMIM id: OMIM:213300
Orphanet id: Orphanet:475
All associated enzymes in DAR:
INPP5E
. The disease is also associated to other non-enzyme proteins (not in DAR).
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|
MONDO:0012423 |
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|
MONDO:0016364 |
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|
MONDO:0007342 |
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|
MONDO:0008996 |
MONDO:0008996
Disease Name: COACH syndrome 1
OMIM id: OMIM:216360
Orphanet id: Orphanet:1454
All associated enzymes in DAR:
INPP5E
. The disease is also associated to other non-enzyme proteins (not in DAR).
INPP5E |
Q9NRR6 |
3.1.3.36
3.1.3.86
|
R-HSA-1660514
R-HSA-1660514
Reactome Name: Synthesis of PIPs at the Golgi membrane
See in Reactome
R-HSA-5624958
R-HSA-5624958
Reactome Name: ARL13B-mediated ciliary trafficking of INPP5E
See in Reactome
|
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-1483257
R-HSA-1483255
R-HSA-1430728
R-HSA-556833
R-HSA-5620920
R-HSA-5620920
Reactome Name: Cargo trafficking to the periciliary membrane
See in Reactome
R-HSA-5617833
|
Organelle biogenesis and maintenance
Metabolism
|
R-HSA-1675824
(
R-HSA-1660514
)
R-HSA-1675824
Reaction Name: PI(4,5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membrane
See in Reactome
R-HSA-5624953
(
R-HSA-5624958
)
R-HSA-5624954
(
R-HSA-5624958
)
R-HSA-5624954
Reaction Name: INPP5E translocates to the primary cilium
See in Reactome
R-HSA-5624956
(
R-HSA-5624958
)
R-HSA-5638012
(
R-HSA-5624958
)
R-HSA-5638012
Reaction Name: PDE6D dissociates from ARL13B:INPP5E
See in Reactome
|