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MGP001156

UniProt Annotations

Entry Information
Gene Nameglycyl-tRNA synthetase
Protein EntrySYG_HUMAN
UniProt IDP41250
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=1.3 uM for tRNA(Gly(GCC)) {ECO:0000269|PubMed:17544401}; KM=15 uM for glycine {ECO:0000269|PubMed:17544401};
Catalytic ActivityATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly).
DiseaseCharcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269|PubMed:12690580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNeuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269|PubMed:12690580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. {ECO:0000269|PubMed:19710017}.
Sequence CautionSequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
SimilarityContains 1 WHEP-TRS domain. {ECO:0000255|PROSITE- ProRule:PRU00531}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:9524218}. Mitochondrion {ECO:0000269|PubMed:9524218}.
SubunitHomodimer. {ECO:0000269|PubMed:17544401, ECO:0000269|PubMed:17545306, ECO:0000269|PubMed:19710017}.
Tissue SpecificityWidely expressed, including brain and spinal cord. {ECO:0000269|PubMed:12690580}.
Web ResourceName=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/";
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