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    THG1L tRNA-histidine guanylyltransferase 1 like [ Homo sapiens (human) ]

    Gene ID: 54974, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Human Thg1 displays tRNA-inducible GTPase activity.

    Human Thg1 displays tRNA-inducible GTPase activity.
    Antika TR, Nazilah KR, Lee YH, Lo YT, Yeh CS, Yeh FL, Chang TH, Wang TL, Wang CC., Free PMC Article

    10/15/2022
    Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.

    Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.
    Nakamura A, Wang D, Komatsu Y., Free PMC Article

    09/25/2021
    Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.

    Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
    Rabin R, Hirsch Y, Johansson MM, Ekstein J, Ekstein A, Pappas J.

    08/14/2021
    Study proposes that homozygosity for the p.Val55Ala mutation in tRNA-histidine guanylyltransferase 1 like (THG1L) is the cause of the abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2.

    A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
    Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O.

    02/10/2018
    The high-resolution crystal structure of human Thg1 reveals remarkable structural similarity between canonical DNA/RNA polymerases and eukaryotic Thg1.

    Kinetic analysis of 3'-5' nucleotide addition catalyzed by eukaryotic tRNA(His) guanylyltransferase.
    Smith BA, Jackman JE., Free PMC Article

    12/15/2015
    IHG-1 is a novel regulator of both mitochondrial dynamics and bioenergetic function and contributes to cell survival following oxidant stress. Increased IHG-1 expression may contribute to pathogenesis of diabetic kidney disease.

    IHG-1 increases mitochondrial fusion and bioenergetic function.
    Hickey FB, Corcoran JB, Griffin B, Bhreathnach U, Mortiboys H, Reid HM, Andrews D, Byrne S, Furlong F, Martin F, Godson C, Murphy M.

    01/17/2015
    IHG-1 increases mitochondrial biogenesis by promoting PGC-1alpha-dependent processes, potentially contributing to the pathogenesis of renal fibrosis

    IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α.
    Hickey FB, Corcoran JB, Docherty NG, Griffin B, Bhreathnach U, Furlong F, Martin F, Godson C, Murphy M., Free PMC Article

    09/13/2012
    The catalytic domain of Thg1 shares both a common architecture and a two-metal ion-dependent mechanism with canonical 5'-3' DNA polymerases.

    Crystal structure of a reverse polymerase.
    Perona JJ, Oza JP., Free PMC Article

    01/22/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article

    12/5/2010
    induced in high glucose-1 (IHG-1)which increases in diabetic nephropathy, may enhance the actions of TGF-beta1 and contribute to the development of tubulointerstitial fibrosis

    IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis.
    Murphy M, Docherty NG, Griffin B, Howlin J, McArdle E, McMahon R, Schmid H, Kretzler M, Droguett A, Mezzano S, Brady HR, Furlong F, Godson C, Martin F., Free PMC Article

    01/21/2010
    ICF45 is a highly conserved novel protein, which is expressed in a cell cycle-dependent manner and seemed to be involved in cell cycle progression and cell proliferation

    Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation.
    Guo D, Hu K, Lei Y, Wang Y, Ma T, He D.

    01/21/2010
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