GARS1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GARS1 |
| Official Name | glycyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:4162] |
| Ensembl ID | ENSG00000106105 |
| Bio databases IDs | |
| Aliases | glycyl-tRNA synthetase 1, glycine tRNA ligase |
| Synonyms | CMT2D, DSMAV, GARS, Gena201, GENA202, Glycine--tRNA ligase, glycyl-tRNA synthetase 1, GlyRS, GRS, HMN5, HMN5A, HMND5, Nmf249, RGD1559871, SGRP23, SMAD1, SMAJI |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- glycyl-tRNA synthetase, dimeric type
- HGTP_anticodon
- class_II_aaRS-like_core
- Anticodon binding domain
- glycine-tRNA ligase
- S15_NS1_EPRS_RNA-bind
- Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)
- WHEP-TRS
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- epithelial cancer
- renal cell cancer
- pancreatic adenocarcinoma
- pancreatic epithelial cancer
- cholangiocarcinoma cancer
- cervical cancer
- distal hereditary motor neuronopathy type 5
- Charcot-Marie-Tooth disease type 2
- muscle weakness
role in cell
- phosphorylation in
- binding in
- neurite outgrowth in
- translation in
- pausing in
- pausing
- integrated stress response in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial matrix
- secretory granules
- axons
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA aminoacylation for protein translation
- mitochondrial glycyl-tRNA aminoacylation
- diadenosine tetraphosphate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrial matrix
- cytoplasm
- secretory granule
- mitochondrion
- cytosol
- axon
Molecular Function
What the gene product does at the molecular level
- glycine-tRNA ligase activity
- ATP binding
- identical protein binding
- bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity
- protein binding
- protein dimerization activity
- transferase activity