MONDO:0008779 |
MONDO:0008779
Disease Name: arthrogryposis
All associated enzymes in DAR:
GBE1
EARS2
ASAH1
ATP2B3
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0009414 |
GYS2 |
P54840 |
2.4.1.11
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322009
(
R-HSA-3322077
)
R-HSA-3322009
Reaction Name: GYS2 catalyzes the polyglucosylation of oligoGlc-GYG2
See in Reactome
R-HSA-3322014
(
R-HSA-3322077
)
R-HSA-3322014
Reaction Name: Autoglucosylation of GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322019
(
R-HSA-3322077
)
R-HSA-3322019
Reaction Name: Autoglucosylation of GYG2 complexed with GYS2-b
See in Reactome
R-HSA-3780994
(
R-HSA-3322077
)
R-HSA-3780994
Reaction Name: GYS2 catalyzes the incorporation of phosphoglucose into glycogen-GYG2
See in Reactome
R-HSA-3780995
(
R-HSA-3322077
)
R-HSA-3780995
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A (laforin) and PPP1RC3 (PTG) associated with glycogen-GYG2
See in Reactome
R-HSA-3780997
(
R-HSA-3322077
)
R-HSA-3780997
Reaction Name: PPP1R3C binds to glycogen:GYG2:GYS2
See in Reactome
R-HSA-3781011
(
R-HSA-3322077
)
R-HSA-3781011
Reaction Name: EPM2A dimer dephosphorylates phosphoglycogen-GYG2
See in Reactome
R-HSA-3781021
(
R-HSA-3322077
)
R-HSA-3781021
Reaction Name: EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG2 complex
See in Reactome
|
MONDO:0009697 |
MONDO:0009697
Disease Name: Lafora disease
OMIM id: OMIM:254780
Orphanet id: Orphanet:501
All associated enzymes in DAR:
NHLRC1
. The disease is also associated to other non-enzyme proteins (not in DAR).
NHLRC1 |
Q6VVB1 |
2.3.2.27
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3780995
(
R-HSA-3322077
)
R-HSA-3780995
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A (laforin) and PPP1RC3 (PTG) associated with glycogen-GYG2
See in Reactome
R-HSA-3781009
(
R-HSA-3322077
)
R-HSA-3781009
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1
See in Reactome
|
MONDO:0009897 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0012693 |
GYS1 |
P13807 |
2.4.1.11
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322001
(
R-HSA-3322077
)
R-HSA-3322001
Reaction Name: GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322003
(
R-HSA-3322077
)
R-HSA-3322003
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322025
(
R-HSA-3322077
)
R-HSA-3322025
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322041
(
R-HSA-3322077
)
R-HSA-3322041
Reaction Name: Phosphorylated GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3781001
(
R-HSA-3322077
)
R-HSA-3781001
Reaction Name: EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex
See in Reactome
R-HSA-3781009
(
R-HSA-3322077
)
R-HSA-3781009
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1
See in Reactome
R-HSA-3781018
(
R-HSA-3322077
)
R-HSA-3781018
Reaction Name: EPM2A dimer dephosphorylates phosphoglycogen-GYG1
See in Reactome
R-HSA-3781023
(
R-HSA-3322077
)
R-HSA-3781023
Reaction Name: PPP1R3C binds to glycogen:GYG1:GYS1
See in Reactome
R-HSA-3781024
(
R-HSA-3322077
)
R-HSA-3781024
Reaction Name: GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1
See in Reactome
|
MONDO:0013291 |
GYG1 |
P46976 |
2.4.1.186
|
R-HSA-6798695
R-HSA-3322077
R-HSA-70221
R-HSA-70221
Reactome Name: Glycogen breakdown (glycogenolysis)
See in Reactome
|
R-HSA-1430728
R-HSA-168249
R-HSA-168256
R-HSA-8982491
R-HSA-71387
|
Metabolism
Immune System
|
R-HSA-3322001
(
R-HSA-3322077
)
R-HSA-3322001
Reaction Name: GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322003
(
R-HSA-3322077
)
R-HSA-3322003
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322025
(
R-HSA-3322077
)
R-HSA-3322025
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322041
(
R-HSA-3322077
)
R-HSA-3322041
Reaction Name: Phosphorylated GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3781001
(
R-HSA-3322077
)
R-HSA-3781001
Reaction Name: EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex
See in Reactome
R-HSA-3781009
(
R-HSA-3322077
)
R-HSA-3781009
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1
See in Reactome
R-HSA-3781018
(
R-HSA-3322077
)
R-HSA-3781018
Reaction Name: EPM2A dimer dephosphorylates phosphoglycogen-GYG1
See in Reactome
R-HSA-3781023
(
R-HSA-3322077
)
R-HSA-3781023
Reaction Name: PPP1R3C binds to glycogen:GYG1:GYS1
See in Reactome
R-HSA-3781024
(
R-HSA-3322077
)
R-HSA-3781024
Reaction Name: GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1
See in Reactome
R-HSA-453358
(
R-HSA-70221
)
R-HSA-453358
Reaction Name: poly((1,4)-alpha-glycosyl) glycogenin-1 + n orthophosphate => glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
See in Reactome
R-HSA-6798748
(
R-HSA-6798695
)
R-HSA-6798748
Reaction Name: Exocytosis of secretory granule lumen proteins
See in Reactome
R-HSA-6800434
(
R-HSA-6798695
)
R-HSA-6800434
Reaction Name: Exocytosis of ficolin-rich granule lumen proteins
See in Reactome
R-HSA-71515
(
R-HSA-70221
)
R-HSA-71515
Reaction Name: glycogen-glycogenin-1 + n orthophosphate => limit dextrin-glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
See in Reactome
R-HSA-71552
(
R-HSA-70221
)
R-HSA-71552
Reaction Name: limit dextrin-glycogenin => ((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl) glycogenin
See in Reactome
R-HSA-71593
(
R-HSA-70221
)
R-HSA-71593
Reaction Name: ((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl)glycogenin => poly{(1,4)-alpha-glucosyl} glycogenin + alpha-D-glucose
See in Reactome
R-HSA-9036727
(
R-HSA-70221
)
R-HSA-9036727
Reaction Name: GAA hydrolyzes lysosomal glycogen
See in Reactome
|
MONDO:0013968 |
PGM1 |
P36871 |
5.4.2.2
|
R-HSA-6798695
R-HSA-3322077
|
R-HSA-1430728
R-HSA-168249
R-HSA-168256
R-HSA-8982491
R-HSA-71387
|
Metabolism
Immune System
|
R-HSA-6798745
(
R-HSA-6798695
)
R-HSA-6798745
Reaction Name: Exocytosis of tertiary granule lumen proteins
See in Reactome
R-HSA-6800434
(
R-HSA-6798695
)
R-HSA-6800434
Reaction Name: Exocytosis of ficolin-rich granule lumen proteins
See in Reactome
R-HSA-9638125
(
R-HSA-3322077
)
R-HSA-9638125
Reaction Name: PGM1:Mg2+ isomerises G1P to G6P
See in Reactome
R-HSA-9638127
(
R-HSA-3322077
)
R-HSA-9638127
Reaction Name: PGM1:Mg2+ isomerises G6P to G1P
See in Reactome
|
MONDO:0014526 |
GYG1 |
P46976 |
2.4.1.186
|
R-HSA-6798695
R-HSA-3322077
R-HSA-70221
R-HSA-70221
Reactome Name: Glycogen breakdown (glycogenolysis)
See in Reactome
|
R-HSA-1430728
R-HSA-168249
R-HSA-168256
R-HSA-8982491
R-HSA-71387
|
Metabolism
Immune System
|
R-HSA-3322001
(
R-HSA-3322077
)
R-HSA-3322001
Reaction Name: GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322003
(
R-HSA-3322077
)
R-HSA-3322003
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322025
(
R-HSA-3322077
)
R-HSA-3322025
Reaction Name: Autoglucosylation of GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322041
(
R-HSA-3322077
)
R-HSA-3322041
Reaction Name: Phosphorylated GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
R-HSA-3781001
(
R-HSA-3322077
)
R-HSA-3781001
Reaction Name: EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex
See in Reactome
R-HSA-3781009
(
R-HSA-3322077
)
R-HSA-3781009
Reaction Name: NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1
See in Reactome
R-HSA-3781018
(
R-HSA-3322077
)
R-HSA-3781018
Reaction Name: EPM2A dimer dephosphorylates phosphoglycogen-GYG1
See in Reactome
R-HSA-3781023
(
R-HSA-3322077
)
R-HSA-3781023
Reaction Name: PPP1R3C binds to glycogen:GYG1:GYS1
See in Reactome
R-HSA-3781024
(
R-HSA-3322077
)
R-HSA-3781024
Reaction Name: GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1
See in Reactome
R-HSA-453358
(
R-HSA-70221
)
R-HSA-453358
Reaction Name: poly((1,4)-alpha-glycosyl) glycogenin-1 + n orthophosphate => glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
See in Reactome
R-HSA-6798748
(
R-HSA-6798695
)
R-HSA-6798748
Reaction Name: Exocytosis of secretory granule lumen proteins
See in Reactome
R-HSA-6800434
(
R-HSA-6798695
)
R-HSA-6800434
Reaction Name: Exocytosis of ficolin-rich granule lumen proteins
See in Reactome
R-HSA-71515
(
R-HSA-70221
)
R-HSA-71515
Reaction Name: glycogen-glycogenin-1 + n orthophosphate => limit dextrin-glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]
See in Reactome
R-HSA-71552
(
R-HSA-70221
)
R-HSA-71552
Reaction Name: limit dextrin-glycogenin => ((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl) glycogenin
See in Reactome
R-HSA-71593
(
R-HSA-70221
)
R-HSA-71593
Reaction Name: ((1,6)-alpha-glucosyl)poly((1,4)-alpha-glucosyl)glycogenin => poly{(1,4)-alpha-glucosyl} glycogenin + alpha-D-glucose
See in Reactome
R-HSA-9036727
(
R-HSA-70221
)
R-HSA-9036727
Reaction Name: GAA hydrolyzes lysosomal glycogen
See in Reactome
|
MONDO:0015168 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017695 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017696 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017697 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017698 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017699 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017700 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0017701 |
GBE1 |
Q04446 |
2.4.1.18
|
R-HSA-3322077
|
R-HSA-8982491
R-HSA-1430728
R-HSA-71387
|
Metabolism
|
R-HSA-3322005
(
R-HSA-3322077
)
R-HSA-3322005
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
See in Reactome
R-HSA-3322016
(
R-HSA-3322077
)
R-HSA-3322016
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a
See in Reactome
R-HSA-3322057
(
R-HSA-3322077
)
R-HSA-3322057
Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
See in Reactome
|
MONDO:0032895 |
UGP2 |
Q16851 |
2.7.7.9
|
R-HSA-3322077
R-HSA-173599
R-HSA-173599
Reactome Name: Formation of the active cofactor, UDP-glucuronate
See in Reactome
|
R-HSA-8982491
R-HSA-71387
R-HSA-156588
R-HSA-211859
R-HSA-156580
R-HSA-156580
Reactome Name: Phase II - Conjugation of compounds
See in Reactome
R-HSA-1430728
|
Metabolism
|
R-HSA-70286
(
R-HSA-173599;
R-HSA-3322077
)
R-HSA-70286
Reaction Name: UTP + D-glucose 1-phosphate <=> pyrophosphate + UDP-glucose
See in Reactome
|