KEGG   NETWORK: N00987
Entry
N00987                      Network                                

Name
Mutation-caused aberrant Htt to transport of calcium
Definition
HTT* // DLG4 -> NMDAR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS -- APAF1 -> CASP9 -> CASP3
  Expanded
3064v1 // 1742 -> (2902+(2903,2904,2905,2906)) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 -- 317 -> 842 -> 836
Class
nt06410 Calcium signaling
nt06461 Huntington disease
Type
Variant
Pathway
hsa05016  Huntington disease
Disease
H00059  Huntington disease
Gene
3064  HTT; huntingtin
1742  DLG4; discs large MAGUK scaffold protein 4
2902  GRIN1; glutamate ionotropic receptor NMDA type subunit 1
2903  GRIN2A; glutamate ionotropic receptor NMDA type subunit 2A
2904  GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B
2905  GRIN2C; glutamate ionotropic receptor NMDA type subunit 2C
2906  GRIN2D; glutamate ionotropic receptor NMDA type subunit 2D
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
317  APAF1; apoptotic peptidase activating factor 1
842  CASP9; caspase 9
836  CASP3; caspase 3
Variant
3064v1 (HTT*)  HTT mutation
Metabolite
C00076  Calcium cation
C00076  Calcium cation
Reference
  Authors
Bezprozvanny I, Hayden MR
  Title
Deranged neuronal calcium signaling and Huntington disease.
  Journal
Biochem Biophys Res Commun 322:1310-7 (2004)
DOI:10.1016/j.bbrc.2004.08.035
Reference
  Authors
Sun Y, Savanenin A, Reddy PH, Liu YF
  Title
Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95.
  Journal
J Biol Chem 276:24713-8 (2001)
DOI:10.1074/jbc.M103501200
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