KEGG   NETWORK: N00958
Entry
N00958                      Network                                

Name
Mutation-activated ITPR1 to mGluR1-TRPC3 signaling pathway
Definition
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR1* -> Ca2+
  Expanded
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> 3708v1 -> C00076
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
Variant
3708v1 (ITPR1*)  ITPR1 activating mutation
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
Reference
  Authors
Mark MD, Schwitalla JC, Groemmke M, Herlitze S
  Title
Keeping Our Calcium in Balance to Maintain Our Balance.
  Journal
Biochem Biophys Res Commun 483:1040-1050 (2017)
DOI:10.1016/j.bbrc.2016.07.020
Reference
  Authors
Tada M, Nishizawa M, Onodera O
  Title
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
  Journal
Neurochem Int 94:1-8 (2016)
DOI:10.1016/j.neuint.2016.01.007
Reference
  Authors
Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA
  Title
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca(2+) signal patterns.
  Journal
J Neurol 264:1444-1453 (2017)
DOI:10.1007/s00415-017-8545-5
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