Dec 25, 2024 · RIGI (RNA Sensor RIG-I) is a Protein Coding gene. Diseases associated with RIGI include Singleton-Merten Syndrome 2 and Singleton-Merten Dysplasia. Among its related pathways are DDX58/IFIH1-mediated induction of interferon-alpha/beta and SARS-CoV-2 Infection. An important paralog of this gene is IFIH1.

DDX58 and IFIH1 are members of the retinoic acid inducible-like receptors (RLR) and recognize exogenous RNA from many viruses, including coronavirus, Zika virus, and rubella. 7,9-11 DDX58 signals downstream through the mitochondrial activating complex, ultimately activating TANK-binding kinase (TBK1). 8 In turn, downstream phosphorylation of ...

Feb 1, 2023 · Results: We identified a novel DDX58 pathogenic variant, R109C, in five unrelated families with LN. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation.

These results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.

Jan 4, 2025 · DDX58 was confirmed to be the downstream target of TRIM24, whose downregulation is essential for the migratory phenotype induced by GLUT4-TRIM24 activation in head and neck squamous cell carcinoma cells. TRIM25 actively participates in higher-order assembly of the RIG-I signalosome.

DExD/H-Box Helicase 58 (DDX58) encodes retinoic acid-inducible gene-I (RIG-I), which is an innate immune receptor helicase (1 - 3). RIG-I is widely expressed in a variety of tissues and cells and is involved in the production of interferons to initiate innate antiviral immunity (4 - 6).

DDX58 was identified as a key immune-related gene associated with ischemic HF and was highly expressed in most cancer types. The survival analysis revealed a significant negative correlation between high DDX58 expression and prognosis in multiple tumor types.

Nov 20, 2020 · In humans, two variants were identified in DDX58 in a patient who suffered from severe IAV infection. The R71H variant is in the CARD protein domain, while the P885 variant is in the regulatory...

Nov 28, 2022 · We provide evidence associating common gene variants in DDX58 with susceptibility to severe influenza infection in children. RIG-I may be essential for preventing life-threatening influenza-associated disease.

Chromosome 9: 32,455,300-32,526,322 reverse strand. This gene has 5 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes. Sorry, the page request "/Homo_sapiens/Component/Gene/Summary/gene_summary?g=ENSG00000107201;r=9:32455300-32526322;db=core;time=1742040509409.409" failed to load.