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FLASH GENE
Symbol AARS contributors: mct/npt - updated : 17-04-2015
HGNC name alanyl-tRNA synthetase
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 : 70.286.296 - 70.323.412
Synonym name
  • alanine tRNA ligase 1, cytoplasmic
  • renal carcinoma antigen NY-REN-42
  • Synonym symbol(s) AlaRS
    EC.number 6.1.1.7
    DNA
    TYPE functioning gene
    STRUCTURE 37.12 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    CDH3 16q22.1 cadherin 3, type 1, P-cadherin (placental) CDH1 16q22.1 cadherin 1, type 1, E-cadherin (epithelial) FLJ12331 16q22.1 hypothetical protein FLJ12331 HAS3 16q22.1 hyaluronan synthase 3 FLJ20400 16q22.1 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) CIRH1A 16q22.1 cirrhosis, autosomal recessive 1A (cirhin) SNTB2 16q22-q23 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) VPS4A 16q23.1 vacuolar protein sorting 4A (yeast) COG8 16q22.1 component of oligomeric golgi complex 8 PDF 16q22.1 peptide deformylase-like protein CGI-37 16q22.1 comparative gene identification transcript 37 MGC23911 16q22.1 hypothetical protein MGC23911 TERF2 16q22.1 telomeric repeat binding factor 2 CYB5-M 16q22.1 cytochrome b5 outer mitochondrial membrane precursor NFAT5 16q22.1 nuclear factor of activated T-cells 5, tonicity-responsive NQO1 16q12-q22 NAD(P)H dehydrogenase, quinone 1 NOB1P 16q22.3 likely ortholog of mouse nin one binding protein LOC388285 16 hypothetical gene supported by U89867; NM_007363 WWP2 16q22.1 Nedd-4-like ubiquitin-protein ligase LOC348174 16q22.1 secretory protein LOC348174 LOC390737 16 similar to MGC9515 protein LOC283970 16q22.1 hypothetical protein LOC283970 PDPR 16q22.1 pyruvate dehydrogenase phosphatase regulatory subunit MGC34761 16q22.1 hypothetical protein MGC34761 LOC388286 16 hypothetical gene supported by AF395444; NM_014006 MTR3 16q22.1 homolog of yeast mRNA transport regulator 3 AARS 16q22.1 alanyl-tRNA synthetase DDX19 16q22.1 DEAD (Asp-Glu-Ala-As) box polypeptide 19 FLJ11126 16q22.1 hypothetical protein FLJ11126 SIAT4B 16q22.3 sialyltransferase 4B (beta-galactoside alpha-2,3-sialyltransferase) FUK 16q22.1 fucokinase COG4 16q22.3 component of oligomeric golgi complex 4 SF3B3 16q22.1 splicing factor 3b, subunit 3, 130kDa MGC34647 16q22.1 hypothetical protein MGC34647 LOC92154 16q22.1 hypothetical protein BC002770 FLJ10305 16q22.1 hypothetical protein FLJ10305 HYDIN 16q22.2 hydrocephalus inducing LOC388287 16 similar to hydrocephalus-inducing protein FLJ14665 16q22.2 hypothetical protein FLJ14665 DKFZp434L0850 16q22.2 hypothetical protein DKFZp434L0850 FLJ11171 16q22.2 hypothetical protein FLJ11171 LOC388288 16 similar to hypothetical protein (L1H 3 region) - human CALB2 16q22.2 calbindin 2, 29kDa (calretinin) ZNF23 16q22.2 zinc finger protein 23 (KOX 16) LOC390738 16 similar to mKIAA1261 protein ZNF19 16q23.1 zinc finger protein 19 (KOX 12) CHST4 16q23.1 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 TAT 16q22.1 tyrosine aminotransferase LOC91862 16q22.2 similar to RIKEN cDNA 1810006A16 gene KIAA0931 16q23.1 similar to RIKEN cDNA 1810006A16 gene AP1G1 16q23 adaptor-related protein complex 1, gamma 1 subunit
    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