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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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004081 | bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity | IDA | 19710017 |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO:0004820 | glycine-tRNA ligase activity | IBA,IMP | 28675565 |
GO:0005515 | protein binding | IPI | 17545306 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | TAS,IBA | 21873635 |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006418 | tRNA aminoacylation for protein translation | IMP,TAS | -- |
GO:0006426 | glycyl-tRNA aminoacylation | IBA | 21873635 |
GO:0015966 | diadenosine tetraphosphate biosynthetic process | IDA | 19710017 |
GO:0070150 | mitochondrial glycyl-tRNA aminoacylation | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Target, substrate | 196 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GARS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GARS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GARS 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gars 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gars 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GARS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GARS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GARS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GARS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gars 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gars 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008604 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aats-gly 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | gars-1 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B08932g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL373W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GRS1 30 31 |
|
OneToMany | |
GRS2 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G29880 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0538000 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.6079 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | grs1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00405 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617635 | Likely Pathogenic: Distal hereditary motor neuronopathy type 5 | 30,603,107(+) | G/C | MISSENSE_VARIANT | |
637059 | Uncertain Significance: Charcot-Marie-Tooth disease; Distal spinal muscular atrophy | 30,599,954(+) | C/T | MISSENSE_VARIANT | |
637107 | Uncertain Significance: Genetic motor neuron disease | 30,612,212(+) | A/G | MISSENSE_VARIANT | |
637108 | Uncertain Significance: Charcot-Marie-Tooth disease | 30,601,086(+) | C/T | MISSENSE_VARIANT | |
637501 | Pathogenic: Charcot-Marie-Tooth disease | 30,628,670(+) | G/A | SPLICE_DONOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6316n100 | CNV | gain | 25217958 |
esv2761316 | CNV | gain | 21179565 |
nsv1024458 | CNV | loss | 25217958 |
nsv1068321 | OTHER | inversion | 25765185 |
nsv1148830 | OTHER | inversion | 26484159 |
nsv436557 | CNV | deletion | 17901297 |
nsv527038 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuronopathy, distal hereditary motor, type va |
|
|
charcot-marie-tooth disease, axonal, type 2d |
|
|
charcot-marie-tooth hereditary neuropathy |
|
|
distal hereditary motor neuropathies |
|
|
charcot-marie-tooth disease, axonal, type 2e |
|