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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
    Physical map
    CPA4 7q32 carboxypeptidase A4 SES1 7p14.3-p14.1 secernin 1 CPA5 7q32 carboxypeptidase A5 LOC389476 7 LOC389476 CPA1 7q32 carboxypeptidase A1 (pancreatic) FKBP14 7p15.3 FK506 binding protein 14, 22 kDa TSGA14 7q32 testis specific, 14 FAPP2 7p21-p11.2 phosphoinositol 4-phosphate adaptor protein-2 MEST 7q32 mesoderm specific transcript homolog (mouse) COPG2 7q32 coatomer protein complex, subunit gamma 2 Ells1 7p15.1 hypothetical protein Ells1 SES1 7p14.3-p14.1 secernin 1 LOC223082 7p15.1 zinc finger/RING finger 2 TSGA13 7q32 testis specific, 13 KLF14 7q32.3 Kruppel-like factor 14 FKBP14 7p15.3 FK506 binding protein 14, 22 kDa DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 FAPP2 7p21-p11.2 phosphoinositol 4-phosphate adaptor protein-2 CARD4 7p15-p14 caspase recruitment domain family, member 4 Ells1 7p15.1 hypothetical protein Ells1 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392791 7 LOC392791 LOC392792 7 hypothetical gene supported by AK125651; BC039420 GARS 7p15 glycyl-tRNA synthetase LOC223082 7p15.1 zinc finger/RING finger 2 CRHR2 7p21-p15 corticotropin releasing hormone receptor 2 DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 INMT 7p15.3-p15.2 indolethylamine N-methyltransferase LOC392651 7 similar to hypothetical protein FLJ22374 CARD4 7p15-p14 caspase recruitment domain family, member 4 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392987 7 similar to ribosomal protein L27 AQP1 7p14 aquaporin 1 (channel-forming integral protein, 28kDa) GARS 7p15 glycyl-tRNA synthetase MKLN1 7q32 muskelin 1, intracellular mediator containing kelch motifs GHRHR 7p14 growth hormone releasing hormone receptor CRHR2 7p21-p15 corticotropin releasing hormone receptor 2 ADCYAP1R1 7p14 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I INMT 7p15.3-p15.2 indolethylamine N-methyltransferase FLJ22374 7p15.1 hypothetical protein FLJ22374 PODXL 7q32-q33 podocalyxin-like AQP1 7p14 aquaporin 1 (channel-forming integral protein, 28kDa) LOC392793 7 similar to eukaryotic translation elongation factor 1 beta 2; eukaryotic translation elongation factor 1 beta 1 LOC392988 7 similar to ribosomal protein S14 GHRHR 7p14 growth hormone releasing hormone receptor NEUROD6 7p15.3 neurogenic differentiation 6 ADCYAP1R1 7p14 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I LOC223075 7p15.1 hypothetical protein LOC223075 NEUROD6 7p15.3 neurogenic differentiation 6 C7orf16 7p15 chromosome 7 open reading frame 16 PLXNA4 7q32.3 plexin A4 PDE1C 7p15.3 phosphodiesterase 1C, calmodulin-dependent 70kDa
    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