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    NHEJ1 non-homologous end joining factor 1 [ Homo sapiens (human) ]

    Gene ID: 79840, updated on 27-Aug-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    PAXX binding to the NHEJ machinery explains functional redundancy with XLF.

    PAXX binding to the NHEJ machinery explains functional redundancy with XLF.
    Seif-El-Dahan M, Kefala-Stavridi A, Frit P, Hardwick SW, Chirgadze DY, Maia De Oliviera T, Andreani J, Britton S, Barboule N, Bossaert M, Pandurangan AP, Meek K, Blundell TL, Ropars V, Calsou P, Charbonnier JB, Chaplin AK., Free PMC Article

    06/3/2023
    X-ray scattering reveals disordered linkers and dynamic interfaces in complexes and mechanisms for DNA double-strand break repair impacting cell and cancer biology.

    X-ray scattering reveals disordered linkers and dynamic interfaces in complexes and mechanisms for DNA double-strand break repair impacting cell and cancer biology.
    Hammel M, Tainer JA., Free PMC Article

    02/5/2022
    The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.

    The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.
    Jessulat M, Amin S, Hooshyar M, Malty R, Moutaoufik MT, Zilocchi M, Istace Z, Phanse S, Aoki H, Omidi K, Burnside D, Samanfar B, Aly KA, Golshani A, Babu M., Free PMC Article

    10/9/2021
    Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.

    Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.
    Chaplin AK, Hardwick SW, Stavridi AK, Buehl CJ, Goff NJ, Ropars V, Liang S, De Oliveira TM, Chirgadze DY, Meek K, Charbonnier JB, Blundell TL., Free PMC Article

    09/4/2021
    Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.

    Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene.
    Al-Marhoobi R, Al-Musalhi M, Naseem SU, Wali Y, Alsayegh A, Al-Tamemi S.

    11/21/2020
    Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.

    Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.
    Ruis B, Molan A, Takasugi T, Hendrickson EA., Free PMC Article

    10/10/2020
    The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells.

    The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells.
    Bhargava R, Lopezcolorado FW, Tsai LJ, Stark JM., Free PMC Article

    09/12/2020
    Description of two unrelated cases with Cernunnos/XLF deficiency and with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.

    Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
    Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI., Free PMC Article

    11/30/2019
    The crystal structures of the Ku-binding motifs (KBM) of the non-homologous end joining (NHEJ) proteins APLF (A-KBM) and XLF (X-KBM) bound to a Ku-DNA complex are discussed.

    XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining.
    Nemoz C, Ropars V, Frit P, Gontier A, Drevet P, Yu J, Guerois R, Pitois A, Comte A, Delteil C, Barboule N, Legrand P, Baconnais S, Yin Y, Tadi S, Barbet-Massin E, Berger I, Le Cam E, Modesti M, Rothenberg E, Calsou P, Charbonnier JB., Free PMC Article

    08/24/2019
    PC4 expression correlated with radiosensitivity and was an independent prognostic factor of progression-free survival (PFS) in patients with NSCLC.

    Inhibition of PC4 radiosensitizes non-small cell lung cancer by transcriptionally suppressing XLF.
    Zhang T, Liu X, Chen X, Wang J, Wang Y, Qian D, Pang Q, Wang P., Free PMC Article

    08/10/2019
    Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53

    Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53.
    Castañeda-Zegarra S, Xing M, Gago-Fuentes R, Sæterstad S, Oksenych V.

    07/20/2019
    PAXX, XLF and XRCC4 synergise in the efficient DNA double-strand breaks recruitment, substrate recognition and stimulation of Pol lambda enzymatic activity during nonhomologous end joining DNA repair.

    PAXX and its paralogs synergistically direct DNA polymerase λ activity in DNA repair.
    Craxton A, Munnur D, Jukes-Jones R, Skalka G, Langlais C, Cain K, Malewicz M., Free PMC Article

    01/19/2019
    this study shows loss of NHEJ1 protein due to a novel splice site mutation in a family presenting with combined immunodeficiency, microcephaly, and growth retardation

    Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
    Sheikh F, Hawwari A, Alhissi S, Al Gazlan S, Al Dhekri H, Rehan Khaliq AM, Borrero E, El-Baik L, Arnaout R, Al-Mousa H, Alazami AM.

    07/14/2018
    Phospho-blocking and -mimicking mutations impact both the stability and DNA bridging capacity of XRCC4/XLF complexes, but without affecting their ability to stimulate LIG4 activity. Implicit in this finding is that phosphorylation may regulate DNA bridging by XRCC4/XLF filaments.

    Mutational phospho-mimicry reveals a regulatory role for the XRCC4 and XLF C-terminal tails in modulating DNA bridging during classical non-homologous end joining.
    Normanno D, Négrel A, de Melo AJ, Betzi S, Meek K, Modesti M., Free PMC Article

    03/10/2018
    Chemotherapy-induced overexpression of XLF and XLF-mediated enhancements in NHEJ activity contribute to chemoresistance in hepatocellular carcinoma (HCC) cells and patients with HCC. Targeting XLF to modulate DSB repair could enhance drug sensitivity and may be a therapeutically useful addition to conventional therapy

    XLF-mediated NHEJ activity in hepatocellular carcinoma therapy resistance.
    Yang S, Wang XQ., Free PMC Article

    03/10/2018
    TDP1 participation in human non-homologous end joining (NHEJ) is mediated by interaction with XLF, and that TDP1-XLF interactions and subsequent NHEJ events are regulated by phosphorylation of TDP1-S81.

    TDP1 is required for efficient non-homologous end joining in human cells.
    Li J, Summerlin M, Nitiss KC, Nitiss JL, Hanakahi LA.

    12/30/2017
    Although PAXX-deficient cells lack c-NHEJ phenotypes, PAXX forms a stable ternary complex with Ku bound to DNA. Thus, PAXX plays an accessory role during c-NHEJ that is largely overlapped by XLF's function.

    PAXX Is an Accessory c-NHEJ Factor that Associates with Ku70 and Has Overlapping Functions with XLF.
    Tadi SK, Tellier-Lebègue C, Nemoz C, Drevet P, Audebert S, Roy S, Meek K, Charbonnier JB, Modesti M.

    12/2/2017
    The role of XLF in NHEJ is summarized.

    XLF/Cernunnos: An important but puzzling participant in the nonhomologous end joining DNA repair pathway.
    Menon V, Povirk LF., Free PMC Article

    10/14/2017
    XLF has an important role during V(D)J recombination.

    XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
    IJspeert H, Rozmus J, Schwarz K, Warren RL, van Zessen D, Holt RA, Pico-Knijnenburg I, Simons E, Jerchel I, Wawer A, Lorenz M, Patıroğlu T, Akar HH, Leite R, Verkaik NS, Stubbs AP, van Gent DC, van Dongen JJ, van der Burg M., Free PMC Article

    08/5/2017
    using dual- and quadruple-trap optical tweezers combined with fluorescence microscopy, we show how human XRCC4, XLF and XRCC4-XLF complexes interact with DNA in real time

    Sliding sleeves of XRCC4-XLF bridge DNA and connect fragments of broken DNA.
    Brouwer I, Sitters G, Candelli A, Heerema SJ, Heller I, de Melo AJ, Zhang H, Normanno D, Modesti M, Peterman EJ, Wuite GJ.

    08/27/2016
    The data suggest that XLF has multiple functions in DNA repair, and they offer potential explanations for the pleiotropic phenotypes associated with XLF deficiency.

    XRCC4/XLF Interaction Is Variably Required for DNA Repair and Is Not Required for Ligase IV Stimulation.
    Roy S, de Melo AJ, Xu Y, Tadi SK, Négrel A, Hendrickson E, Modesti M, Meek K., Free PMC Article

    10/31/2015
    PC4 protects esophageal squamous cell carcinoma cells from IR-induced death by enhancing the nonhomologous end joining-promoting activity of XLF.

    Inhibition of human positive cofactor 4 radiosensitizes human esophageal squmaous cell carcinoma cells by suppressing XLF-mediated nonhomologous end joining.
    Qian D, Zhang B, Zeng XL, Le Blanc JM, Guo YH, Xue C, Jiang C, Wang HH, Zhao TS, Meng MB, Zhao LJ, Hao JH, Wang P, Xie D, Lu B, Yuan ZY., Free PMC Article

    06/20/2015
    Phosphorylation of XLF impairs non-homologous end-joining DNA repair.

    Akt-mediated phosphorylation of XLF impairs non-homologous end-joining DNA repair.
    Liu P, Gan W, Guo C, Xie A, Gao D, Guo J, Zhang J, Willis N, Su A, Asara JM, Scully R, Wei W., Free PMC Article

    04/25/2015
    Werner syndrome protein positively regulates XRCC4-like factor transcription.

    Werner syndrome protein positively regulates XRCC4-like factor transcription.
    Liu D, Deng X, Yuan C, Chen L, Cong Y, Xu X., Free PMC Article

    11/22/2014
    Human XLF is a non-essential, but critical, classic non-homologous end-joining -repair factor.

    A role for XLF in DNA repair and recombination in human somatic cells.
    Fattah FJ, Kweon J, Wang Y, Lee EH, Kan Y, Lichter N, Weisensel N, Hendrickson EA., Free PMC Article

    10/25/2014
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