Varaico: Literature-Extracted Genetic Variants

Gene:UNC93B1
Variant:p.H412R
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UNC93B1

NM_030930.4:p.H412R

Associated Papers

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Rael VE et al.

The Journal of Experimental Medicine, 2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

David C et al.

The Journal of Experimental Medicine, 2024

Disrupted degradative sorting of TLR7 is associated with human lupus.

Mishra H et al.

Science Immunology, 2024

UNC93B1 variants underlie TLR7-dependent autoimmunity.

Wolf C et al.

Science Immunology, 2024

The mammalian trafficking chaperone protein UNC93B1 maintains the ER calcium sensor STIM1 in a dimeric state primed for translocation to the ER cortex.

Wang WA et al.

The Journal of Biological Chemistry, 2022

N-glycosylation of UNC93B1 at a Specific Asparagine Residue Is Required for TLR9 Signaling.

Song HS et al.

Frontiers in Immunology, 2022

Donor UNC-93 Homolog B1 genetic polymorphism predicts survival outcomes after unrelated bone marrow transplantation.

Uchino K et al.

Genes and Immunity, 2021

Cryo-EM structures of Toll-like receptors in complex with UNC93B1.

Ishida H et al.

Nature Structural & Molecular Biology, 2021

Proteins Interacting with STIM1 and Store-Operated Ca2+ Entry.

Wang WA et al.

Progress in Molecular and Subcellular Biology, 2021

The Chaperone UNC93B1 Regulates Toll-like Receptor Stability Independently of Endosomal TLR Transport.

Pelka K et al.

Immunity, 2018

Complex Negative Regulation of TLR9 by Multiple Proteolytic Cleavage Events.

Sinha SS et al.

Journal of Immunology (baltimore, Md. : 1950), 2016

UNC93B1 is essential for the plasma membrane localization and signaling of Toll-like receptor 5.

Huh JW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

The ectodomain of TLR3 receptor is required for its plasma membrane translocation.

Pohar J et al.

Plos One, 2014

Expression of murine Unc93b1 is up-regulated by interferon and estrogen signaling: implications for sex bias in the development of autoimmunity.

Panchanathan R et al.

International Immunology, 2013

Acidic amino acid residues in the juxtamembrane region of the nucleotide-sensing TLRs are important for UNC93B1 binding and signaling.

Kim J et al.

Journal of Immunology (baltimore, Md. : 1950), 2013

UNC93B1 and nucleic acid-sensing Toll-like receptors mediate host resistance to infection with Leishmania major.

Schamber-Reis BL et al.

The Journal of Biological Chemistry, 2013

UNC93B1 physically associates with human TLR8 and regulates TLR8-mediated signaling.

Itoh H et al.

Plos One, 2011

UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes.

Kim YM et al.

Nature, 2008

The interaction between the ER membrane protein UNC93B and TLR3, 7, and 9 is crucial for TLR signaling.

Brinkmann MM et al.

The Journal of Cell Biology, 2007

The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9.

Tabeta K et al.

Nature Immunology, 2006

An ENU-induced splicing mutation reveals a role for Unc93b1 in early immune cell activation following influenza A H1N1 infection.

Lafferty EI et al.

Genes and Immunity, 0

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