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
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
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
PMID:24922074
  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
PMID:23314020
  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
PMID:30242016
  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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