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FLASH GENE
Symbol AARS1 contributors: mct/npt - updated : 17-04-2015
HGNC name alanyl-tRNA synthetase1
HGNC id 20
Corresponding disease
CMT2N Charcot-Marie-Tooth disease, axonal, type 2N
DICMT3 dominant intermediate Charcot-Marie-Tooth neuropathy 3
EIEPN infantile epileptic encephalopathy with peripheral neuropathy
Location 16q22.1      Physical location : -
Synonym name
  • alanine tRNA ligase 1, cytoplasmic
  • renal carcinoma antigen NY-REN-42
  • Synonym symbol(s) AlaRS, AARS
    EC.number 6.1.1.7
    DNA
    TYPE functioning gene
    STRUCTURE 37.12 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    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 1254),
  • the tRNA recognition domain (residues 255451),
  • the editing domain (residues 468757),
  • C-terminal domain (residues 758968)
  • 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