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Literature summary for 6.1.1.14 extracted from

  • Motley, W.W.; Talbot, K.; Fischbeck, K.H.
    GARS axonopathy: not every neurons cup of tRNA (2010), Trends Neurosci., 33, 59-66.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 6.1.1.14

Application

Application Comment Organism
medicine Charcot-Marie-Tooth disease, CMT, type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase Mus musculus
medicine Charcot-Marie-Tooth disease, CMT, type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase Homo sapiens

Protein Variants

Protein Variants Comment Organism
A57V found in a screen of 33 patients Homo sapiens
D500N disease phenotype CMT2D/dSMA-V Homo sapiens
E71G disease phenotype CMT2D/dSMA-V Homo sapiens
G240R disease phenotype CMT2D Homo sapiens
G526R disease phenotype dSMA-V Homo sapiens
G598A severe HMN Homo sapiens
GarsC201R/+ mouse model, decreased grip strength, poor skilled motor function, increased total GARS protein at p15, reduction in large diameter axon in sciatic nerve, normal lifespan Mus musculus
GarsC201R/C201R mouse model, reduced weight and viability, impaired limb movement, life expectancy 17 days Mus musculus
GarsC201R/XM256 mouse model, embryonic lethal Mus musculus
GarsNmf249/+ mouse model, sensory and motor deficits, abnormal neuromuscular junction morphology, impaired nerve impule transmission, reduced nerve conduction velocities, loss of large diameter peripheral axons, life expectancy 6-8 weeks Mus musculus
GarsNmf249/Nmf249 mouse model, embryonic lethal Mus musculus
GarsNmf249/XM256 mouse model, embryonic lethal Mus musculus
GarsP278KY/+ mouse model, sensory and motor deficits, abnormal neuromuscular junction morphology, impaired nerve impule transmission, reduced nerve conduction velocities, loss of large diameter peripheral axons, life expectancy 6-8 weeks Mus musculus
GarsXM256/+ mouse model, reduced GARS RNA levels, normal neuromuscular junction morphology, normal nerve conduction velocities, normal lifespan Mus musculus
GarsXM256/XM256 mouse model, embryonic lethal Mus musculus
H418R disease phenotype dSMA-V Homo sapiens
I280F disease phenotype CMT2 Homo sapiens
L129P disease phenotype dSMA-V Homo sapiens
P244L disease phenotype CMT2D Homo sapiens
S581L disease phenotype lower limb predominant, CMT2 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
axon
-
 Mus musculus 30424
-
axon
-
 Homo sapiens 30424
-
cytosol
-
 Mus musculus 5829
-
cytosol
-
 Homo sapiens 5829
-
mitochondrion
-
 Mus musculus 5739
-
mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + glycine + tRNAGly Mus musculus
-
 AMP + diphosphate + glycyl-tRNAGly
-
 ?
ATP + glycine + tRNAGly Homo sapiens
-
 AMP + diphosphate + glycyl-tRNAGly
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
 mouse models of Charcot-Marie-Tooth disease type 2D, CMT2D, are established
-

Source Tissue

Source Tissue Comment Organism Textmining
neuroblastoma cell
-
 Homo sapiens
-
neuron
-
 Mus musculus
-
neuron
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + glycine + tRNAGly
-
 Mus musculus AMP + diphosphate + glycyl-tRNAGly
-
 ?
ATP + glycine + tRNAGly
-
 Homo sapiens AMP + diphosphate + glycyl-tRNAGly
-
 ?

Subunits

Subunits Comment Organism
homodimer
-
 Mus musculus
homodimer
-
 Homo sapiens

Synonyms

Synonyms Comment Organism
GARS
-
 Mus musculus
GARS
-
 Homo sapiens
Glycyl-tRNA synthetase
-
 Mus musculus
Glycyl-tRNA synthetase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Mus musculus
ATP
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction Charcot-Marie-Tooth disease, CMT, type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase Mus musculus
malfunction Charcot-Marie-Tooth disease, CMT, type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase Homo sapiens