GARS1 (glycyl-tRNA synthetase 1)

2012-05-01  

Identity

HGNC
GARS1
LOCATION
7p14.3
LOCUSID
2617
ALIAS
CMT2D,DSMAV,GARS,GlyRS,HMN5,HMN5A,SMAD1,SMAJI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2617
MIM: 600287
HGNC: 4162
Ensembl: ENSG00000106105

Variants:

dbSNP: 2617
ClinVar: 2617
TCGA: ENSG00000106105
COSMIC: GARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106105ENST00000389266P41250
ENSG00000106105ENST00000444666H7C443
ENSG00000106105ENST00000454308F8WCK4
ENSG00000106105ENST00000627489F8WCK4

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726

References

Pubmed IDYearTitleCitations
126905802003Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.179
221449142011Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.56
223455582012Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.45
175453062007Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.44
171019162006Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.37
261381422015Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.35
165341182006Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.29
251685142014Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.27
232793452012Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.21
259723752015Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.20

Citation

Dessen P

GARS1 (glycyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52713/gars1