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FLASH GENE
Symbol AARS1 contributors: mct/npt - updated : 17-04-2015
HGNC name alanyl-tRNA synthetase1
HGNC id 20
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA
  • a second domain which interacts with the rest of the tRNA structure
  • L aminoacyl-tRNA synthetase domain (residues 1–254),
  • the tRNA recognition domain (residues 255–451),
  • the editing domain (residues 468–757),
  • C-terminal domain (residues 758–968)
  • mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • class-II aminoacyl-tRNA synthetase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons
  • target autoantibodies in immune polymyositis/dermatomyositis
  • ligate amino acids to their cognate tRNAs (Sang Lee 2002)
  • catalyzes synthesis of Ala-tRNA(Ala) and hydrolysis of mis-acylated Ser- and Gly-tRNA(Ala) at 2 different catalytic sites
  • CELLULAR PROCESS nucleotide, transcription, initiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism other
    signaling
    nucleic
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction network of aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex, systematic interaction network probably to enhance the efficiency of in vivo protein synthesis (Sang Lee 2002)
  • translation requires the specific attachment of AAs to AARS and the subsequent delivery of aminoacyl-tRNAs to the ribosome by elongation factor 1 alpha (EEF1A2)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DICMT3 , CMT2N , EIEPN
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction 0)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS