KEGG   NETWORK: N00956
Entry
N00956                      Network                                
Name
Mutation-activated 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 -> 5582v2 -| 7222
Class
nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration
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
5582v2 (PRKCG*)  PRKCG activating mutation
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
Reference
PMID:18499672
  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
PMID:30249303
  Authors
Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Nemeth AH, Cowley SA, Ansorge O, Talbot K, Becker EBE
  Title
Neurodegeneration in SCA14 is associated with increased PKCgamma kinase activity, mislocalization and aggregation.
  Journal
Acta Neuropathol Commun 6:99 (2018)
DOI:10.1186/s40478-018-0600-7
Reference
PMID:15824357
  Authors
Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD
  Title
The clinical and genetic spectrum of spinocerebellar ataxia 14.
  Journal
Neurology 64:1258-60 (2005)
DOI:10.1212/01.WNL.0000156801.64549.6B
Reference
PMID:16193476
  Authors
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G
  Title
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
  Journal
Ann Neurol 58:720-9 (2005)
DOI:10.1002/ana.20628
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