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    KARS1 lysyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 3735, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription.

    Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription.
    Tang Y, Behrens RT, St Gelais C, Wu S, Vivekanandan S, Razin E, Fang P, Wu L, Sherer N, Musier-Forsyth K., Free PMC Article

    12/20/2023
    Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

    Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
    Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A.

    12/20/2023
    Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases.

    Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases.
    Lee DH, Paik ES, Cho YJ, Lee YY, Lee B, Lee EJ, Choi JJ, Choi CH, Lee S, Choi JW, Lee JW.

    10/8/2022
    Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

    Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
    Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V, Telethon Undiagnosed Diseases Program, D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N., Free PMC Article

    01/29/2022
    Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

    Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
    Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A, Genomics England Research Consortium, Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK., Free PMC Article

    10/30/2021
    Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment.

    Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment.
    Wu S, Hei Z, Zheng L, Zhou J, Liu Z, Wang J, Fang P.

    07/17/2021
    Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain.

    Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain.
    Liu S, Refaei M, Liu S, Decker A, Hinerman JM, Herr AB, Howell M, Musier-Forsyth K, Tsang P., Free PMC Article

    01/23/2021
    Through whole-exome sequencing, we discovered genetic abnormalities in lysyl-tRNA synthetase (KARS). All patients harboured the variant [c.1786C>T, p.Leu596Phe] KARS isoform 1 ([c.1702C>T, p.Leu568Phe] of KARS isoform 2). These KARS pathological variants are novel, including the variant [c.1786C>T; p.Leu596Phe] (c.1702C>T; p.Leu568Phe) shared by all patients in the homozygous or compound-heterozygous state.

    Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
    Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y.

    01/11/2020
    This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature.

    Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
    van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F., Free PMC Article

    12/14/2019
    KRS in colon cancer cells remodels the microenvironment to promote metastasis, which can thus be therapeutically targeted at these bidirectional KRS-dependent communications of cancer spheroids with environmental cues.

    Lysyl-tRNA synthetase-expressing colon spheroids induce M2 macrophage polarization to promote metastasis.
    Nam SH, Kim D, Lee D, Lee HM, Song DG, Jung JW, Kim JE, Kim HJ, Kwon NH, Jo EK, Kim S, Lee JW., Free PMC Article

    09/14/2019
    This study demonstrates that human mitochondrial AspRS, ArgRS, and LysRS, each have a specific sub-mitochondrial distribution, with ArgRS being exclusively localized in the membrane, LysRS exclusively in the soluble fraction, and AspRS being present in both.

    Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
    González-Serrano LE, Karim L, Pierre F, Schwenzer H, Rötig A, Munnich A, Sissler M., Free PMC Article

    03/9/2019
    The studies showed that mutations in KARS lead to a newly defined subtype of leukoencephalopathy associated with sensorineural hearing impairment. The combined effect of reduced aminoacylation and release of LysRS from the multiple-synthetase complex (MSC) likely underlies the pathogenesis of the KARS mutations identified in this study.

    Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
    Zhou XL, He LX, Yu LJ, Wang Y, Wang XJ, Wang ED, Yang T.

    06/23/2018
    Using the TruSight One sequencing panel we identified two novel mutations in KARS. Both mutations, never reported previously, occur in a highly conserved region of the catalytic domain and displayed a dramatic effect on KARS stability

    Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
    Verrigni D, Diodato D, Di Nottia M, Torraco A, Bellacchio E, Rizza T, Tozzi G, Verardo M, Piemonte F, Tasca G, D'Amico A, Bertini E, Carrozzo R.

    01/13/2018
    Caspase-8 controls the secretion of inflammatory lysyl-tRNA synthetase in exosomes from colorectal cancer cells.

    Caspase-8 controls the secretion of inflammatory lysyl-tRNA synthetase in exosomes from cancer cells.
    Kim SB, Kim HR, Park MC, Cho S, Goughnour PC, Han D, Yoon I, Kim Y, Kang T, Song E, Kim P, Choi H, Mun JY, Song C, Lee S, Jung HS, Kim S., Free PMC Article

    09/16/2017
    Results indicate that KRS can promote cell-cell and cellextracellular matrix adhesion for migration.

    Suppression of lysyl-tRNA synthetase, KRS, causes incomplete epithelial-mesenchymal transition and ineffective cell‑extracellular matrix adhesion for migration.
    Nam SH, Kang M, Ryu J, Kim HJ, Kim D, Kim DG, Kwon NH, Kim S, Lee JW.

    12/31/2016
    finding show that enzymatically active Shiga toxins trigger the dissociation of lysyl-tRNA synthetase (KRS) from the multi-aminoacyl-tRNA synthetase complex in human macrophage-like differentiated THP-1 cells and its subsequent secretion.

    Shiga Toxins Trigger the Secretion of Lysyl-tRNA Synthetase to Enhance Proinflammatory Responses.
    Lee MS, Kwon H, Nguyen LT, Lee EY, Lee CY, Choi SH, Kim MH.

    11/12/2016
    KRS at the plasma membrane plays new roles in metastatic migration as a signaling inducer, and causes intracellular signaling for cancer dissemination

    Noncanonical roles of membranous lysyl-tRNA synthetase in transducing cell-substrate signaling for invasive dissemination of colon cancer spheroids in 3D collagen I gels.
    Nam SH, Kim D, Lee MS, Lee D, Kwak TK, Kang M, Ryu J, Kim HJ, Song HE, Choi J, Lee GH, Kim SY, Park SH, Kim DG, Kwon NH, Kim TY, Thiery JP, Kim S, Lee JW., Free PMC Article

    06/11/2016
    tRK1 forms a complex with human enolases and interacts with tRK1 and human pre-lysyl-tRNA synthetase (preKARS2)

    A Moonlighting Human Protein Is Involved in Mitochondrial Import of tRNA.
    Baleva M, Gowher A, Kamenski P, Tarassov I, Entelis N, Masquida B., Free PMC Article

    02/27/2016
    structural characteristics of the KRS-LR interaction on the cell surface

    Characterization of the interaction between lysyl-tRNA synthetase and laminin receptor by NMR.
    Cho HY, Ul Mushtaq A, Lee JY, Kim DG, Seok MS, Jang M, Han BW, Kim S, Jeon YH.

    10/18/2014
    Lysyl-tRNA synthetase plays essential role in HIV replication, transcriptional regulation, cytokine-like signaling. [review]

    Non-canonical roles of lysyl-tRNA synthetase in health and disease.
    Motzik A, Nechushtan H, Foo SY, Razin E.

    06/28/2014
    The role of preKARS2 in the tRNA mitochondrial import.

    Induced tRNA import into human mitochondria: implication of a host aminoacyl-tRNA-synthetase.
    Gowher A, Smirnov A, Tarassov I, Entelis N., Free PMC Article

    02/1/2014
    The KARS variant is identified in two families affected by DFNB89-associated autosomal-recessive nonsyndromic hearing impairment.

    Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
    Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM., Free PMC Article

    09/21/2013
    C-terminal domain of HIV-1 capsid protein as surrogate for human lysyl tRNA synthetase

    Escherichia coli LysU is a potential surrogate for human lysyl tRNA synthetase in interactions with the C-terminal domain of HIV-1 capsid protein.
    Boonyalai N, Pullen JR, Abdul Wahab MF, Wright M, Miller AD.

    06/8/2013
    A single conformational change triggered by phosphorylation leads to multiple effects driving an exclusive switch of LysRS function from translation to transcription.

    Structural switch of lysyl-tRNA synthetase between translation and transcription.
    Ofir-Birin Y, Fang P, Bennett SP, Zhang HM, Wang J, Rachmin I, Shapiro R, Song J, Dagan A, Pozo J, Kim S, Marshall AG, Schimmel P, Yang XL, Nechushtan H, Razin E, Guo M., Free PMC Article

    03/9/2013
    Dual role for motif 1 residues of human lysyl-tRNA synthetase in dimerization and packaging into HIV-1.

    Dual role for motif 1 residues of human lysyl-tRNA synthetase in dimerization and packaging into HIV-1.
    Dewan V, Wei M, Kleiman L, Musier-Forsyth K., Free PMC Article

    02/16/2013
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