Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.S172A
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TBK1

NM_013254.4:p.S172A

Associated Papers

Glutamic Acid at Position 168 Is a Constitutive Activator of Tank Binding Kinase 1 Catalytic Function.

Bhore N et al.

Neuromolecular Medicine, 2025

TBK1 is a signaling hub in coordinating stress-adaptive mechanisms in head and neck cancer progression.

Kim HJ et al.

Autophagy, 2025

Heme regulates protein interactions and phosphorylation of BACH2 intrinsically disordered region in humoral response.

Watanabe-Matsui M et al.

Iscience, 2025

Mechanistic insights into the interactions of TAX1BP1 with RB1CC1 and mammalian ATG8 family proteins.

Zhang M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38437556 (PubMed )
Supplement: pnas.2315550121.sapp.pdf

Optineurin provides a mitophagy contact site for TBK1 activation.

Yamano K et al.

The Embo Journal, 2024

NAK-associated protein 1/NAP1 activates TBK1 to ensure accurate mitosis and cytokinesis.

Paul S et al.

The Journal of Cell Biology, 2024

38059900 (PubMed )
Supplement: JCB_202303082_review_history.pdf

Increased IKKϵ protein stability ensures efficient type I interferon responses in conditions of TBK1 deficiency.

Wegner J et al.

Frontiers in Immunology, 2023

Clathrin-associated AP-1 controls termination of STING signalling.

Liu Y et al.

Nature, 2022

Specific association of TBK1 with the trans-Golgi network following STING stimulation.

Kemmoku H et al.

Cell Structure and Function, 2022

Selective autophagy controls the stability of TBK1 via NEDD4 to balance host defense.

Xie W et al.

Cell Death and Differentiation, 2022

Impact of single amino acid substitution on the structure and function of TANK-binding kinase-1.

Umair M et al.

Journal of Cellular Biochemistry, 2021

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

Taft J et al.

Cell, 2021

ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.

Harding O et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.

Deng Z et al.

Autophagy, 2020

Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.

Ye J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

The E3 Ubiquitin Ligase TBK1 Mediates the Degradation of Multiple Picornavirus VP3 Proteins by Phosphorylation and Ubiquitination.

Li D et al.

Journal of Virology, 2019

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis.

Pereira GC et al.

Mobile Dna, 2018

Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization.

Abe T et al.

Immunity, 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J et al.

Human Mutation, 2017

E3 ubiquitin ligase RNF128 promotes innate antiviral immunity through K63-linked ubiquitination of TBK1.

Song G et al.

Nature Immunology, 2016

USP38 Inhibits Type I Interferon Signaling by Editing TBK1 Ubiquitination through NLRP4 Signalosome.

Lin M et al.

Molecular Cell, 2016

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.

Li F et al.

Nature Communications, 2016

Crystal structure of a human IκB kinase β asymmetric dimer.

Liu S et al.

The Journal of Biological Chemistry, 2013

Structural insights into the functions of TBK1 in innate antimicrobial immunity.

Shu C et al.

Structure (london, England : 1993), 2013

Crystal structure and mechanism of activation of TANK-binding kinase 1.

Larabi A et al.

Cell Reports, 2013

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

Herman M et al.

The Journal of Experimental Medicine, 2012

NLRP4 negatively regulates type I interferon signaling by targeting the kinase TBK1 for degradation via the ubiquitin ligase DTX4.

Cui J et al.

Nature Immunology, 2012

The DEAD-box helicase DDX3X is a critical component of the TANK-binding kinase 1-dependent innate immune response.

Soulat D et al.

The Embo Journal, 2008

18583960 (PubMed )
Supplement: emboj2008126s1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."