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
378272782024Glycyl-tRNA Synthetase Induces Psoriasis-Like Skin by Facilitating Skin Inflammation and Vascular Endothelial Cell Angiogenesis.0
378272782024Glycyl-tRNA Synthetase Induces Psoriasis-Like Skin by Facilitating Skin Inflammation and Vascular Endothelial Cell Angiogenesis.0
369016982023Glycyl-tRNA Synthetase (GARS) Expression Is Associated with Prostate Cancer Progression and Its Inhibition Decreases Migration, and Invasion In Vitro.2
369016982023Glycyl-tRNA Synthetase (GARS) Expression Is Associated with Prostate Cancer Progression and Its Inhibition Decreases Migration, and Invasion In Vitro.2
352719872022GARS is implicated in poor survival and immune infiltration of hepatocellular carcinoma.8
353326132022Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.2
355233112022Two distinct receptor-binding domains of human glycyl-tRNA synthetase 1 displayed on extracellular vesicles activate M1 polarization and phagocytic bridging of macrophages to cancer cells.3
352719872022GARS is implicated in poor survival and immune infiltration of hepatocellular carcinoma.8
353326132022Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.2
355233112022Two distinct receptor-binding domains of human glycyl-tRNA synthetase 1 displayed on extracellular vesicles activate M1 polarization and phagocytic bridging of macrophages to cancer cells.3
338273972021Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.5
344034682021Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response.16
338273972021Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.5
344034682021Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response.16
319854732020Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.9

Citation

Dessen P

GARS1 (glycyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52713/gene-fusions-explorer/css/template-card.css