Literature summary for 6.1.1.14 extracted from

Seburn, K.L.; Nangle, L.A.; Cox, G.A.; Schimmel, P.; Burgess, R.W.
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model (2006), Neuron, 51, 715-726.

Search for more literature for 6.1.1.14

Cloned(Commentary)

Cloned (Comment)	Organism
gene GARS, DNA and amino acid sequence determination and analysis, genetic mapping	Mus musculus

Protein Variants

Protein Variants	Comment	Organism
additional information	a dominant mutation Nmf249 of gene GARS causes Charcot-Marie-Tooth peripheral neuropathy type 2D, phenotype analysis, the dominant phenotype is not caused by loss of GlyRS aminoacylation function, mutant mice have abnormal neuromuscular junction morphology and impaired transmission, reduced nerve conduction velocities, and a loss of large-diameter peripheral axons, without defects in myelination, overview, construction of a loss-of-function mutant by gene-trap insertion, which shows no dominant phenotype, overview	Mus musculus

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytosol	-	Mus musculus	5829	-

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	-	Mus musculus

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + glycine + tRNAGly	Mus musculus	enzyme mutation Nmf249 causes Charcot-Marie-Tooth peripheral neuropathy type 2D, overview	AMP + diphosphate + glycyl-tRNAGly	-	?

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	BALB mice, gene GARS	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Mus musculus	-
neuron	-	Mus musculus	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + glycine + tRNAGly	enzyme mutation Nmf249 causes Charcot-Marie-Tooth peripheral neuropathy type 2D, overview	Mus musculus	AMP + diphosphate + glycyl-tRNAGly	-	?
ATP + glycine + tRNAGly	usage of calf liver tRNA	Mus musculus	AMP + diphosphate + glycyl-tRNAGly	-	?

Synonyms

Synonyms	Comment	Organism
Glycyl-tRNA synthetase	-	Mus musculus
GlyRS	-	Mus musculus

Temperature Optimum [°C]

Temperature Optimum [°C]	Temperature Optimum Maximum [°C]	Comment	Organism
37	-	assay at	Mus musculus

pH Optimum

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
7.5	-	assay at	Mus musculus

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Mus musculus

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Release 2023.1 (January 2023)