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FLASH GENE
Symbol GARS contributors: mct - updated : 27-08-2012
HGNC name glycyl-tRNA synthetase
HGNC id 4162
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