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 []. |
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•
•
•
•
•
|
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 (). |
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•
•
•
•
•
|
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. |
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•
•
•
•
•
|
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. |
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•
•
•
•
•
|
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 (). |
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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 |
|
•
•
•
•
•
|
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: |
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: |
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: |
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: |
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: |
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: |
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: |
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|