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FLASH GENE
Symbol AARS1 contributors: mct/npt - updated : 17-04-2015
HGNC name alanyl-tRNA synthetase1
HGNC id 20
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 3344 - 968 - 2002 11829477
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Endocrinethyroid   highly
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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