GARS1 - glycyl-tRNA synthetase 1 Gene
Also Known as GARS; HMN5; CMT2D; DSMAV; GlyRS; HMN5A; SMAD1; SMAJI
Species: Homo sapiens
About GARS1
This gene has 33 transcripts (splice variants), 233 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 31.7), testis (RPKM 29.9) and 25 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001316772.1 | NP_001303701.1 | glycine--tRNA ligase isoform 2 |
| NM_002047.4 | NP_002038.2 | glycine--tRNA ligase isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity |
IDA
IDA: Inferred from direct assay
|
19710017 | GOA |
| enables glycine-tRNA ligase activity |
IDA
IDA: Inferred from direct assay
|
17544401 | GOA |
| enables glycine-tRNA ligase activity |
IMP
IMP: Inferred from mutant phenotype
|
28675565 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
17545306 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17545306 | GOA |
| enables protein dimerization activity |
IDA
IDA: Inferred from direct assay
|
17544401 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in diadenosine tetraphosphate biosynthetic process |
IDA
IDA: Inferred from direct assay
|
19710017 | GOA |
| involved in tRNA aminoacylation for protein translation |
IMP
IMP: Inferred from mutant phenotype
|
28675565 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
17035524 | GOA |
GARS1 Protein Structure
WHEP-TRS: WHEP-TRS domain (67 - 121)
tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (157 - 451)
HGTP_anticodon: Anticodon binding domain (615 - 708)
- 0
- 200
- 400
- 600
- 739 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glycine--tRNA ligase |
|
GARS1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GARS1 | P41250 | GARS1 | Homo sapiens | P41250 | 17595294 | |
|
Cross
|
GARS1 | P41250 | Gars1 | Mus musculus | Q9CZD3 | 17595294 | |
|
Intra
|
GARS1 | P41250 | GARS1 | Homo sapiens | P41250 | 17545306 | |
|
Intra
|
GARS1 | P41250 | GARS1 | Homo sapiens | P41250 | 17545306 | |
|
Cross
|
GARS1 | P41250 | Gars1 | Mus musculus | Q9CZD3 | 17545306 | |
|
Intra
|
GARS1 | P41250 | GARS1 | Homo sapiens | P41250 | 17545306 |
Recombinant GARS1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74128 | GARS Protein, Human (sf9, His) | P41250-1/NP_002038.2 (M1-E739) | ≥ 85%, as determined by reducing SDS-PAGE. |
GARS1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83309 | GARS Antibody (YA3054) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
|
|
| Spinal Muscular Atrophy, Infantile, James Type |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Hyperekplexia |
|
|
| Motor Peripheral Neuropathy |
|
|
| Polymyositis |
|
|
| Dermatomyositis |
|
|
| Spinal Muscular Atrophy |
|
|
| Muscular Atrophy |
|
|
| Charcot-Marie-Tooth Hereditary Neuropathy |
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
|
| Myositis |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
|
| Neuropathy |
|
|
| Tooth Disease |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2f |
|
|
| Charcot-Marie-Tooth Disease Intermediate Type |
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2u |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2w |
|
|
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
|
| Scapuloperoneal Spinal Muscular Atrophy |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
|
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
|
| Usher Syndrome, Type Iiib |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
|
| Charcot-Marie-Tooth Disease Type X |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Pontocerebellar Hypoplasia, Type 6 |
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
| Spinal Muscular Atrophy With Lower Extremity Predominant |
|
|
| Cerebral Angioma |
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
|
| Glycine Encephalopathy |
|
|
| Perrault Syndrome |
|
|
| Scoliosis |
|
|
| Neuromuscular Disease |
|
|
| Pontocerebellar Hypoplasia |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Peripheral Nervous System Disease |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Spastic Ataxia |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GARS1 | VGNC | VGNC:29254 |
| Macaca mulatta | GARS1 | VGNC | VGNC:72881 |
| Felis catus | GARS1 | VGNC | VGNC:62465 |
| Mus musculus | GARS1 | MGD | MGI:2449057 |
| Rattus norvegicus | GARS1 | RGD | RGD:1307856 |
| Canis familiaris | GARS1 | VGNC | VGNC:41113 |
| Others | GARS1 | NCBI |