Cloned (Comment) | Organism |
---|---|
expression of CMT-causing mutant variants and wild-type enzymes in neuroblastoma cells that sprout primitive neurites | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D500N | naturally occuring mutation in the catalytic domain, the mutation lies in the disordered insertion III and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
E71G | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
G240R | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
G526R | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
G598A | naturally occuring mutation in the anticodon binding domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
H418R | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
I280F | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
L129P | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
additional information | GlyRS mutations cause Charcot-Marie-Tooth peripheral neuropathies, at least 10 different mutant alleles, most catalytic-domain mutations are at the dimer interface, overview, mapping mutations onto human GlyRS crystal structure show them within a band encompassing both sides of the dimer interface, with two CMT-causing mutations being at sites that are complementary partners of a kissing contact across the dimer interface, the CMT phenotype does not correlate with aminoacylation activity, overview | Homo sapiens |
P234KY | naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
S581L | naturally occuring mutation in the anticodon binding domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytosol | - |
Homo sapiens | 5829 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | - |
Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + glycine + tRNAGly | Homo sapiens | GlyRS mutations cause Charcot-Marie-Tooth peripheral neuropathies, at least 10 different mutant alleles, overview | AMP + diphosphate + glycyl-tRNAGly | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene GARS | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + glycine + tRNAGly | - |
Homo sapiens | AMP + diphosphate + glycyl-tRNAGly | - |
? | |
ATP + glycine + tRNAGly | GlyRS mutations cause Charcot-Marie-Tooth peripheral neuropathies, at least 10 different mutant alleles, overview | Homo sapiens | AMP + diphosphate + glycyl-tRNAGly | - |
? |
Subunits | Comment | Organism |
---|---|---|
dimer | homodimer, crystal structure | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
Glycyl-tRNA synthetase | - |
Homo sapiens |
GlyRS | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |