BAA06338.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
83,166 Da
NCBI Official Full Name
glycyl tRNA synthetase
NCBI Official Synonym Full Names
glycyl-tRNA synthetase
NCBI Official Synonym Symbols
HMN5; CMT2D; DSMAV; GlyRS; SMAD1 [Similar Products]
NCBI Protein Information
glycine--tRNA ligase
UniProt Protein Name
Glycine--tRNA ligase
UniProt Synonym Protein Names
Diadenosine tetraphosphate synthetase; AP-4-A synthetase; Glycyl-tRNA synthetase; GlyRS
UniProt Synonym Gene Names
UniProt Entry Name
SYG_HUMAN
NCBI Summary for GARS
This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008]
UniProt Comments for GARS
GARS: Catalyzes 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. Defects in GARS are the cause of Charcot-Marie-Tooth disease type 2D (CMT2D). CMT2D is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2D is characterized by a more severe phenotype in the upper extremities (severe weakness and atrophy, absence of tendon reflexes) than in the lower limbs. CMT2D inheritance is autosomal dominant. Defects in GARS are a cause of distal hereditary motor neuronopathy type 5A (HMN5A); also known as distal hereditary motor neuropathy type V (DSMAV). 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. Belongs to the class-II aminoacyl-tRNA synthetase family.
Protein type: Ligase; EC 6.1.1.14; Translation; Mitochondrial
Chromosomal Location of Human Ortholog: 7p15
Cellular Component: nucleoplasm; mitochondrial matrix; cytoplasm; cytosol; secretory granule
Molecular Function: protein dimerization activity; glycine-tRNA ligase activity; ATP binding
Biological Process: tRNA aminoacylation for protein translation; glycyl-tRNA aminoacylation; gene expression; diadenosine tetraphosphate biosynthetic process
Disease: Neuronopathy, Distal Hereditary Motor, Type Va; Charcot-marie-tooth Disease, Axonal, Type 2d
Research Articles on GARS
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Pathways associated with GARS recombinant protein
Diseases associated with GARS recombinant protein
Organs/Tissues associated with GARS recombinant protein
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