| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Motley WW |
| Year: |
2011 |
| Journal: |
PLoS Genet |
| Title: |
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. |
| Volume: |
7 |
| Issue: |
12 |
| Pages: |
e1002399 |
|
•
•
•
•
•
|
| Author |
|
•
•
•
•
•
|
| Author |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
729
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sleigh JN |
| Year: |
2017 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. |
| Volume: |
114 |
| Issue: |
16 |
| Pages: |
E3324-E3333 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Descamps D |
| Year: |
2012 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Toll-like receptor 5 (TLR5), IL-1β secretion, and asparagine endopeptidase are critical factors for alveolar macrophage phagocytosis and bacterial killing. |
| Volume: |
109 |
| Issue: |
5 |
| Pages: |
1619-24 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion D, Robert W Burgess |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART []. |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART [].This entry represents the C-domain, which is related to the C-terminal domain of biotin carboxylase/carbamoyl phosphate synthetase (). |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART [].This entry represents the N-domain, which is related to the N-terminal domain of biotin carboxylase/carbamoyl phosphate synthetase (). |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Conserved_site |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART [].This signature pattern identifies a highly conserved octapeptide. |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART [].This entry represents the A-domain of the enzyme, and is related to the ATP-grasp domain of biotin carboxylase/carbamoyl phosphate synthetase. |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Homologous_superfamily |
| Description: |
Phosphoribosylglycinamide synthetase () (GARS) (phosphoribosylamine glycine ligase) []catalyses the second step in the de novobiosynthesis of purine. The reaction catalysed by phosphoribosylglycinamide synthetase is the ATP-dependent addition of 5-phosphoribosylamine to glycine to form 5'phosphoribosylglycinamide:ATP + 5-phosphoribosylamine + glycine = ADP + Pi+ 5'-phosphoribosylglycinamideIn bacteria, GARS is a monofunctional enzyme (encoded by the purD gene). Inyeast, GARS is part of a bifunctional enzyme (encoded by the ADE5,7 gene) in conjunction with phosphoribosylformylglycinamidine cyclo-ligase (AIRS) []. In higher eukaryotes, GARS is part of a trifunctional enzyme in conjunction with AIRS and with phosphoribosylglycinamide formyltransferase (GART), forming GARS-AIRS-GART [].This entry represents the C-domain superfamily of the phosphoribosylglycinamide synthetase, which is related to the C-terminal domain of biotin carboxylase/carbamoyl phosphate synthetase (). |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Aiba A |
| Year: |
1989 |
| Journal: |
J Biol Chem |
| Title: |
Nucleotide sequence analysis of genes purH and purD involved in the de novo purine nucleotide biosynthesis of Escherichia coli. |
| Volume: |
264 |
| Issue: |
35 |
| Pages: |
21239-46 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Aimi J |
| Year: |
1990 |
| Journal: |
Nucleic Acids Res |
| Title: |
De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli. |
| Volume: |
18 |
| Issue: |
22 |
| Pages: |
6665-72 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Henikoff S |
| Year: |
1986 |
| Journal: |
J Mol Biol |
| Title: |
The Saccharomyces cerevisiae ADE5,7 protein is homologous to overlapping Drosophila melanogaster Gart polypeptides. |
| Volume: |
190 |
| Issue: |
4 |
| Pages: |
519-28 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tal MC |
| Year: |
2020 |
| Journal: |
mBio |
| Title: |
Upregulation of CD47 Is a Host Checkpoint Response to Pathogen Recognition. |
| Volume: |
11 |
| Issue: |
3 |
|
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gars1/Gars1<+> Tg(CAG-GARS)DRwb/? |
| Background: |
involves: BALB/cAnN * C3H/HeH * C57BL/6J * FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gars1/Gars1 Tg(CAG-GARS)DRwb/? |
| Background: |
involves: BALB/cAnN * C3H/HeH * C57BL/6J * FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
433
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
306
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gars1/Gars1 Tg(CAG-GARS)DRwb/? |
| Background: |
involves: 129P2/OlaHsd * BALB/cAnN * C3H/HeH * C57BL/6J * FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gars1/Gars1<+> Tg(CAG-GARS)DRwb/? |
| Background: |
involves: C57BL/6J * CAST/Ei * FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gars1/Gars1 Tg(CAG-GARS)DRwb/? |
| Background: |
involves: BALB/cAnN * C3H/HeH * C57BL/6J * FVB/N |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1010
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1010
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
64
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Seburn KL |
| Year: |
2006 |
| Journal: |
Neuron |
| Title: |
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. |
| Volume: |
51 |
| Issue: |
6 |
| Pages: |
715-26 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shorrock HK |
| Year: |
2018 |
| Journal: |
Brain |
| Title: |
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. |
| Volume: |
141 |
| Issue: |
10 |
| Pages: |
2878-2894 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
199
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kan JL |
| Year: |
1993 |
| Journal: |
Gene |
| Title: |
Mouse cDNAs encoding a trifunctional protein of de novo purine synthesis and a related single-domain glycinamide ribonucleotide synthetase. |
| Volume: |
137 |
| Issue: |
2 |
| Pages: |
195-202 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Banks GT |
| Year: |
2009 |
| Journal: |
PLoS One |
| Title: |
Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice. |
| Volume: |
4 |
| Issue: |
7 |
| Pages: |
e6218 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Achilli F |
| Year: |
2009 |
| Journal: |
Dis Model Mech |
| Title: |
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. |
| Volume: |
2 |
| Issue: |
7-8 |
| Pages: |
359-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sleigh JN |
| Year: |
2014 |
| Journal: |
Hum Mol Genet |
| Title: |
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice. |
| Volume: |
23 |
| Issue: |
10 |
| Pages: |
2639-50 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Morelli KH |
| Year: |
2019 |
| Journal: |
J Clin Invest |
| Title: |
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. |
| Volume: |
129 |
| Issue: |
12 |
| Pages: |
5568-5583 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sleigh JN |
| Year: |
2020 |
| Journal: |
Cell Death Dis |
| Title: |
Developmental demands contribute to early neuromuscular degeneration in CMT2D mice. |
| Volume: |
11 |
| Issue: |
7 |
| Pages: |
564 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Benoy V |
| Year: |
2018 |
| Journal: |
Brain |
| Title: |
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. |
| Volume: |
141 |
| Issue: |
3 |
| Pages: |
673-687 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Boczonadi V |
| Year: |
2018 |
| Journal: |
Hum Mol Genet |
| Title: |
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. |
| Volume: |
27 |
| Issue: |
12 |
| Pages: |
2187-2204 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nangle LA |
| Year: |
2007 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. |
| Volume: |
104 |
| Issue: |
27 |
| Pages: |
11239-44 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kan JL |
| Year: |
1995 |
| Journal: |
J Biol Chem |
| Title: |
Analysis of a mouse gene encoding three steps of purine synthesis reveals use of an intronic polyadenylation signal without alternative exon usage. |
| Volume: |
270 |
| Issue: |
4 |
| Pages: |
1823-32 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Stum M |
| Year: |
2011 |
| Journal: |
Mol Cell Neurosci |
| Title: |
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. |
| Volume: |
46 |
| Issue: |
2 |
| Pages: |
432-43 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sleigh JN |
| Year: |
2020 |
| Journal: |
Front Cell Neurosci |
| Title: |
Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels. |
| Volume: |
14 |
|
| Pages: |
232 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bais P |
| Year: |
2016 |
| Journal: |
Biol Open |
| Title: |
Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions. |
| Volume: |
5 |
| Issue: |
7 |
| Pages: |
908-20 |
|
•
•
•
•
•
|