interferon induced with helicase C domain 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCOVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlaucoma (developmental)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInherited white matter disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+9 more panels — install the extension to see the full list inline on any page.
Aicardi-Goutieres syndrome 7
Singleton-Merten syndrome 1
Aicardi-Goutières syndrome
immunodeficiency 95
Singleton-Merten dysplasia
hypothyroidism
psoriasis
myxedema
thyroid gland disorder
Aicardi-Goutieres syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Interferon-induced helicase C domain-containing protein 1
Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-inflammatory cytokines (PubMed:28594402, PubMed:32169843, PubMed:33727702). Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length) (PubMed:22160685). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV), mengo encephalomyocarditis virus (ENMG), and rhinovirus (PubMed:28606988). Detects coronavirus SARS-CoV-2 (PubMed:33440148, PubMed:33514628). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines
Curated MONDO disease pages that list IFIH1 among their top associated genes.
IFIH1 · Q9BYX4
Mean pLDDT
79.4/ 100
Confident
1,025 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
