KEGG   NETWORK: N01151
Entry
N01151                      Network                                

Name
Mutation-inactivated SIGMAR1 to Ca2+ -apoptotic pathway
Definition
SIGMAR1* -> ITPR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS
  Expanded
10280v1 -> (3708,3709,3710) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205
Class
nt06410 Calcium signaling
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
10280  SIGMAR1; sigma non-opioid intracellular receptor 1
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
90550  MCU; mitochondrial calcium uniporter
7416  VDAC1; voltage dependent anion channel 1
7417  VDAC2; voltage dependent anion channel 2
7419  VDAC3; voltage dependent anion channel 3
291  SLC25A4; solute carrier family 25 member 4
292  SLC25A5; solute carrier family 25 member 5
293  SLC25A6; solute carrier family 25 member 6
83447  SLC25A31; solute carrier family 25 member 31
54205  CYCS; cytochrome c, somatic
Variant
10280v1 (SIGMAR1*)  SIGMAR1 mutation
Metabolite
C00076  Calcium cation
C00076  Calcium cation
Reference
  Authors
Vollrath JT, Sechi A, Dreser A, Katona I, Wiemuth D, Vervoorts J, Dohmen M, Chandrasekar A, Prause J, Brauers E, Jesse CM, Weis J, Goswami A
  Title
Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances.
  Journal
Cell Death Dis 5:e1290 (2014)
DOI:10.1038/cddis.2014.243
Reference
  Authors
Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J
  Title
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.
  Journal
Hum Mol Genet 22:1581-600 (2013)
DOI:10.1093/hmg/ddt008
Reference
  Authors
Benarroch EE
  Title
Sigma-1 receptor and amyotrophic lateral sclerosis.
  Journal
Neurology 91:743-747 (2018)
DOI:10.1212/WNL.0000000000006347
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