KEGG NETWORK: N00956

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

LinkDB

DBGET integrated database retrieval system