KEGG   NETWORK: N00955
Entry
N00955                      Network                                

Name
Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
Definition
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+ -> PRKCG* // TRPC3
  Expanded
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708,3709,3710) -> C00076 -> 5582v1 // 7222
Class
nt06410 Calcium signaling
nt06462 Spinocerebellar ataxia
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
2911  GRM1; glutamate metabotropic receptor 1
2776  GNAQ; G protein subunit alpha q
23236  PLCB1; phospholipase C beta 1
5330  PLCB2; phospholipase C beta 2
5331  PLCB3; phospholipase C beta 3
5332  PLCB4; phospholipase C beta 4
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1
3709  ITPR2; inositol 1,4,5-trisphosphate receptor type 2
3710  ITPR3; inositol 1,4,5-trisphosphate receptor type 3
5582  PRKCG; protein kinase C gamma
7222  TRPC3; transient receptor potential cation channel subfamily C member 3
Variant
5582v1 (PRKCG*)  PRKCG inactivating mutation
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
Reference
  Authors
Hisatsune C, Hamada K, Mikoshiba K
  Title
Ca(2+) signaling and spinocerebellar ataxia.
  Journal
Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018)
DOI:10.1016/j.bbamcr.2018.05.009
Reference
  Authors
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N
  Title
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
  Journal
J Biol Chem 283:19854-63 (2008)
DOI:10.1074/jbc.M801492200
Reference
  Authors
Kasumu A, Bezprozvanny I
  Title
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
  Journal
Cerebellum 11:630-9 (2012)
DOI:10.1007/s12311-010-0182-9
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