Aliases for GARS1 Gene
External Ids for GARS1 Gene
Previous HGNC Symbols for GARS1 Gene
This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GeneCards Summary for GARS1 Gene
GARS1 (Glycyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with GARS1 include Neuronopathy, Distal Hereditary Motor, Type Va and Charcot-Marie-Tooth Disease, Axonal, Type 2D. Among its related pathways are tRNA Aminoacylation and Gene Expression. An important paralog of this gene is POLG2.
UniProtKB/Swiss-Prot Summary for GARS1 Gene
Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:28675565, PubMed:24898252). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017).