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    HARS1 histidyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 3035, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Serum-circulating His-tRNA synthetase inhibits organ-targeted immune responses.

    Serum-circulating His-tRNA synthetase inhibits organ-targeted immune responses.
    Adams RA, Fernandes-Cerqueira C, Notarnicola A, Mertsching E, Xu Z, Lo WS, Ogilvie K, Chiang KP, Ampudia J, Rosengren S, Cubitt A, King DJ, Mendlein JD, Yang XL, Nangle LA, Lundberg IE, Jakobsson PJ, Schimmel P., Free PMC Article

    01/29/2022
    Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.

    Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
    Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM., Free PMC Article

    11/6/2021
    Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy.

    Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy.
    Huang HL, Lin WC, Yeh CC, Sun YT.

    09/12/2020
    the first biochemical analysis of Charcot-Marie-Tooth-associated HARS mutations and underscores how loss of the primary aminoacylation function can contribute to disease pathology.

    Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
    Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C., Free PMC Article

    03/30/2019
    This study suggests that the human HisRS genes, while descending from a common ancestor with dual function for both types of tRNA(His), have acquired highly specialized tRNA recognition properties through evolution.

    Evolutionary gain of highly divergent tRNA specificities by two isoforms of human histidyl-tRNA synthetase.
    Lee YH, Chang CP, Cheng YJ, Kuo YY, Lin YS, Wang CC., Free PMC Article

    09/2/2017
    Despite the similar kinetics, differential scanning fluorimetry revealed that Y454S is less thermally stable than Wild Type HARS, and cells from Y454S patients grown at elevated temperatures demonstrate diminished levels of protein synthesis compared to those of Wild Type cells. The thermal sensitivity associated with the Y454S mutation represents a biochemical basis for understanding Usher Syndrome Type IIIB.

    The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.
    Abbott JA, Guth E, Kim C, Regan C, Siu VM, Rupar CA, Demeler B, Francklyn CS, Robey-Bond SM., Free PMC Article

    08/5/2017
    Loss of function mutations in histidyl-tRNA synthetase cause a spectrum of inherited peripheral neuropathies

    Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
    Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J., Free PMC Article

    10/17/2015
    Data suggest that by comparing human and trypanosomatid histidyl-tRNA synthetases (HisRS) may provide opportunities for developing specific inhibitors of Trypanosoma brucei HisRS.

    Comparison of histidine recognition in human and trypanosomatid histidyl-tRNA synthetases.
    Koh CY, Wetzel AB, de van der Schueren WJ, Hol WG., Free PMC Article

    08/1/2015
    Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.

    Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.
    Zhou JJ, Wang F, Xu Z, Lo WS, Lau CF, Chiang KP, Nangle LA, Ashlock MA, Mendlein JD, Yang XL, Zhang M, Schimmel P., Free PMC Article

    10/4/2014
    Data indicate that higher anti-Jo1 levels were associated with disease severity in antisynthetase syndrome (ASS) patients.

    Functional outcome and prognostic factors in anti-Jo1 patients with antisynthetase syndrome.
    Marie I, Hatron PY, Cherin P, Hachulla E, Diot E, Vittecoq O, Menard JF, Jouen F, Dominique S., Free PMC Article

    08/9/2014
    Non-Jo-1 anti-synAb positive patients have decreased survival compared with Jo-1 patients.

    Patients with non-Jo-1 anti-tRNA-synthetase autoantibodies have worse survival than Jo-1 positive patients.
    Aggarwal R, Cassidy E, Fertig N, Koontz DC, Lucas M, Ascherman DP, Oddis CV., Free PMC Article

    02/15/2014
    Findings suggest that histidyl-tRNA synthetase (HARS) is associated with axonal peripheral neuropathy.

    A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
    Vester A, Velez-Ruiz G, McLaughlin HM, NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A., Free PMC Article

    07/6/2013
    The crystal structure of a novel splice variant of a tRNA synthetase lacking the entire catalytic domain.

    Internally deleted human tRNA synthetase suggests evolutionary pressure for repurposing.
    Xu Z, Wei Z, Zhou JJ, Ye F, Lo WS, Wang F, Lau CF, Wu J, Nangle LA, Chiang KP, Yang XL, Zhang M, Schimmel P., Free PMC Article

    01/26/2013
    Although anti-Jo1 positive patients with antisynthetase syndrome share features of patients with anti-PL7/PL12 antibody, they exhibit many differences regarding clinical phenotype and long-term outcome.

    Comparison of long-term outcome between anti-Jo1- and anti-PL7/PL12 positive patients with antisynthetase syndrome.
    Marie I, Josse S, Decaux O, Dominique S, Diot E, Landron C, Roblot P, Jouneau S, Hatron PY, Tiev KP, Vittecoq O, Noel D, Mouthon L, Menard JF, Jouen F.

    10/20/2012
    Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.

    Genetic mapping and exome sequencing identify variants associated with five novel diseases.
    Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA., Free PMC Article

    07/14/2012
    clinical and prognostic profiles of 45 patients displaying anti-histidyl-tRNA synthetase autoantibodies were determined

    Clinical significance of anti-histidyl-tRNA synthetase (Jo1) autoantibodies.
    Gomard-Mennesson E, Fabien N, Cordier JF, Ninet J, Tebib J, Rousset H.

    01/21/2010
    A proteolytically sensitive conformation of HisRS exists in the lung, the target tissue associated with this autoantibody response.

    Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis.
    Levine SM, Raben N, Xie D, Askin FB, Tuder R, Mullins M, Rosen A, Casciola-Rosen LA.

    01/21/2010
    the TSG101 interaction with HRS is a crucial step in endocytic down-regulation of mitogenic signaling and this interaction may have a role in linking the functions of early and late endosomes

    TSG101 interaction with HRS mediates endosomal trafficking and receptor down-regulation.
    Lu Q, Hope LW, Brasch M, Reinhard C, Cohen SN., Free PMC Article

    01/21/2010
    Demonstrating histidyl-tRNA synthetase (Jo-1)-specific T cell responses represents a key step in establishing the hypothesis that Jo-1 drives T cell-mediated autoimmunity in Jo-1+ polymyositis.

    Critical requirement for professional APCs in eliciting T cell responses to novel fragments of histidyl-tRNA synthetase (Jo-1) in Jo-1 antibody-positive polymyositis.
    Ascherman DP, Oriss TB, Oddis CV, Wright TM.

    01/21/2010
    genomic organization of the HARS locus and mapping of transcripts originating from a bi-directional promoter controlling the differential expression of these gene

    Genomic organization, transcriptional mapping, and evolutionary implications of the human bi-directional histidyl-tRNA synthetase locus (HARS/HARSL).
    O'Hanlon TP, Miller FW.

    01/21/2010
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