KEGG   NETWORK: N01153
Entry
N01153                      Network                                
Name
Mutation-caused aberrant GLE1 to nuclear export of mRNA
Definition
(mRNA(nuclear)+CBP+ALY+SR+TAP+p15) // (NPC+GLE1*+DDX19B) // (mRNA(cytoplasmic),CBP,ALY,SR,TAP,p15)
  Expanded
(C00046+4686+10189+(6428,6432)+10482+(29107,55916)) -- ((81929+55746+57122+79023+23279+79902+348995+23636+9818+53371+9688+23165+23511+9631+129401+23225+55706+9883+8021+4927+5903)+2733v1+11269) -> (C00046,4686,10189,(6428,6432),10482,(29107,55916))
Class
nt06424 RNA processing
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
4686  NCBP1; nuclear cap binding protein subunit 1
10189  ALYREF; Aly/REF export factor
6428  SRSF3; serine and arginine rich splicing factor 3
6432  SRSF7; serine and arginine rich splicing factor 7
10482  NXF1; nuclear RNA export factor 1
29107  NXT1; nuclear transport factor 2 like export factor 1
55916  NXT2; nuclear transport factor 2 like export factor 2
81929  SEH1L; SEH1 like nucleoporin
55746  NUP133; nucleoporin 133
57122  NUP107; nucleoporin 107
79023  NUP37; nucleoporin 37
23279  NUP160; nucleoporin 160
79902  NUP85; nucleoporin 85
348995  NUP43; nucleoporin 43
23636  NUP62; nucleoporin 62
9818  NUP58; nucleoporin 58
53371  NUP54; nucleoporin 54
9688  NUP93; nucleoporin 93
23165  NUP205; nucleoporin 205
23511  NUP188; nucleoporin 188
9631  NUP155; nucleoporin 155
129401  NUP35; nucleoporin 35
23225  NUP210; nucleoporin 210
55706  NDC1; NDC1 transmembrane nucleoporin
9883  POM121; POM121 transmembrane nucleoporin
8021  NUP214; nucleoporin 214
4927  NUP88; nucleoporin 88
5903  RANBP2; RAN binding protein 2
2733  GLE1; GLE1 RNA export mediator
11269  DDX19B; DEAD-box helicase 19B
Variant
2733v1 (GLE1*)  GLE1 mutation
Metabolite
C00046  RNA
C00046  RNA
Reference
  Authors
Kim HJ, Taylor JP
  Title
Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases.
  Journal
Neuron 96:285-297 (2017)
DOI:10.1016/j.neuron.2017.07.029
Reference
  Authors
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, Andre-Guimont C, Camu W, Bouchard JP, Dupre N, Rouleau GA, Wente SR, Dion PA
  Title
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
  Journal
Hum Mol Genet 24:1363-73 (2015)
DOI:10.1093/hmg/ddu545
Reference
  Authors
Nguyen HP, Van Broeckhoven C, van der Zee J
  Title
ALS Genes in the Genomic Era and their Implications for FTD.
  Journal
Trends Genet 34:404-423 (2018)
DOI:10.1016/j.tig.2018.03.001
Reference
  Authors
White MA, Sreedharan J
  Title
Amyotrophic lateral sclerosis: recent genetic highlights.
  Journal
Curr Opin Neurol 29:557-64 (2016)
DOI:10.1097/WCO.0000000000000367
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