KEGG   NETWORK: N00954
Entry
N00954                      Network                                
Name
Mutation-activated GRM1 to mGluR1-TRPC3 signaling pathway
Definition
Glutamate -> GRM1* -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+
  Expanded
C00025 -> 2911v1 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708,3709,3710) -> C00076
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
Variant
2911v1 (GRM1*)  GRM1 mutation
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
Reference
PMID:29777722
  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
PMID:28886343
  Authors
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Nemeth AH
  Title
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
  Journal
Am J Hum Genet 101:451-458 (2017)
DOI:10.1016/j.ajhg.2017.08.005
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