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FLASH GENE
Symbol HARS contributors: mct - updated : 26-11-2010
HGNC name histidyl-tRNA synthetase
HGNC id 4816
Corresponding disease
CMT2W Charcot-Marie-Tooth disease, axonal, type 2W
USH3B Usher syndrome type 3B
Location 5q31.3      Physical location : 140.053.490 - 140.070.971
Synonym name
  • histidine tRNA ligase 1, cytoplasmic
  • histidine translase
  • Synonym symbol(s) HRS, FLJ20491, HisRS, Jo-1
    EC.number 6.1.1.21
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text a head-to-head orientation with HARSL
    STRUCTURE 17.48 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure two distinct promoters
    MAPPING cloned Y linked N status confirmed
    Map cen - D5S476 - D5S1856 - CTNNA1 - D5S1372 - D5S594 - GNPDA1 - UBE2B - HDAC3 - D5S166 - D5S2116 - EIF4EBP3 - D5S2009 - CD14 - NDUFA2 - D5S1760 - HARS - D5S658 - PCDHA@ - PCDHB@ - PCDHG@ - APBB3 - HBEGF - D5S2374 - PFDN1 - D5S2119 - D5S2010 - qter
    Physical map
    FLJ20288 SLC35A4 5q31.3 solute carrier family 35, member A4 EIF4EBP3 5q31.3 eukaryotic translation initiation factor 4E binding protein 3 SRA1 5q31.3 steroid receptor RNA activator 1 APBB3 5q31 amyloid beta (A4) precursor protein-binding, family B, member 3 CD14 5q31.1 CD14 antigen PRO1580 5q31.3 hypothetical protein PRO1580 NDUFA2 5q31.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa IK 2p15-p14 IK cytokine, down-regulator of HLA II FLJ20195 5q31.3 hypothetical protein FLJ20195 DND1 5q31.3 dead end homolog 1 (zebrafish) HARS 5q31.1 histidyl-tRNA synthetase HARSL 5q31.1-q33.2 histidyl-tRNA synthetase-like FLJ31121 5q31.3 hypothetical protein FLJ31121 PCDHA1 5q31.3 protocadherin alpha 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1981 - 509 - 2002 12056811
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinethyroid    
    Nervousbrain    
     ganglia    
    Reproductivefemale systembreastmammary gland  
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one WHEP-TRS domain
  • HOMOLOGY
    Homologene
    FAMILY
  • class-II aminoacyl-tRNA synthetase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins
  • catalyzing the transfer of the aminoacyl moiety from histidyl-adenylate to the terminal adenosine (A76) of tRNA
  • key role for histidyl-tRNA synthetase in the pathogenesis of idiopathic inflammatory myopathy
  • can likely trigger both innate and adaptive immune responses that culminate in severe muscle inflammation that is the hallmark of idiopathic inflammatory myopathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by tRNA aminoacylation activity of HARS appeared to be increased upon oxidative modification
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2W , USH3B
    Susceptibility to rheumatoid arthritis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS