9eve

Structural highlights

Disease

ZNFX1_HUMAN The disease is caused by variants affecting the gene represented in this entry.

Function

ZNFX1_HUMAN RNA-binding protein that initiates the antiviral response and is required to restrict the replication of RNA viruses (PubMed:33872655). Acts as a double-stranded RNA (dsRNA) sensor that recognizes viral RNA and then interacts with MAVS to initiate the type I interferon response (By similarity). Also required for immunity against some bacteria, such as mycobacteria (PubMed:33876776).[UniProtKB:Q8R151]^{[1] [2]}

References

1. ↑ Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. PMID:33872655 doi:10.1016/j.jaci.2021.03.045
2. ↑ Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Béziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2102804118. PMID:33876776 doi:10.1073/pnas.2102804118