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FLASH GENE
Symbol GARS contributors: mct - updated : 27-08-2012
HGNC name glycyl-tRNA synthetase
HGNC id 4162
Corresponding disease
CMT2D Charcot-Marie-Tooth disease, axonal, type 2D
DSMAVA distal spinal muscular atrophy, type VA
Location 7p14.3      Physical location : 30.634.180 - 30.673.646
Synonym name
  • Charcot-Marie-Tooth neuropathy, neuronal type, D
  • glycine tRNA ligase
    • Synonym symbol(s) CMT2D, DSMAVA, GlyRS, SMAD1, HMN5, GRS
    EC.number 6.1.1.14
    DNA
    TYPE functioning gene
    STRUCTURE 39.47 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2759 - 739 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouthgingiva   
     stomach    
    Endocrineadrenal gland    
    Lymphoid/Immunespleen    
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
    Respiratorylung    
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal WHEP-TRS domain
  • a catalytic domain containing the characteristic three conserved motifs (1, 2, and 3) of class II tRNA synthetases and, in addition, three insertions (I, II, and III) between the motifs
  • a C-terminal anticodon binding domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to C.elegans T10f2.1
    Homologene
    FAMILY aminoacyl-t RNA synthetase family, class 2
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a target of autoantibodies in the human autoimmune diseases
  • . essential component of the translation apparatus, circulates in serum and can be secreted from macrophages in response to FAS ligand that is released from tumor cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2D , DSMAVA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • although missense mutations of Gars may cause some loss of function, the dominant neuropathy phenotype observed in mice is caused by a dose-dependent gain of function that is not mitigated by over-expression of functional wild-type protein