| Function: |
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 proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). 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) and mengo encephalomyocarditis virus (ENMG). 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. |
| Tissue Specificity: |
Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung. |
| Involvement in Disease: |
Diabetes mellitus, insulin-dependent, 19: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Aicardi-Goutieres syndrome 7: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Singleton-Merten syndrome 1: An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extend glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. |
| Sequence Similarities: |
Belongs to the helicase family. RLR subfamily. |
| Post-Translational Modification: |
Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta. |
| Cellular Location: |
Cytoplasm. Nucleus.
May be found in the nucleus, during apoptosis. |
| Database Links: |
Entrez Gene: 64135?HumanOmim: 606951?HumanSwissProt: Q9BYX4?HumanUnigene: 163173?Human |
| Synonyms: |
CADM-140 autoantigen AntibodyClinically amyopathic dermatomyositis autoantigen 140 kDa AntibodyDEAD/H (Asp Glu Ala Asp/His) box polypeptide AntibodyDEAD/H box polypeptide AntibodyHelicard AntibodyHelicase with 2 CARD domains AntibodyHlcd AntibodyIDDM 19 AntibodyIDDM19 AntibodyIFIH 1 AntibodyIfih1 AntibodyIFIH1_HUMAN AntibodyInterferon induced helicase C domain containing protein 1 Antibodyinterferon induced with helicase C domain 1 AntibodyInterferon induced with helicase C domain protein 1 AntibodyInterferon-induced helicase C domain-containing protein 1 AntibodyInterferon-induced with helicase C domain protein 1 AntibodyMDA 5 AntibodyMDA-5 AntibodyMDA5 AntibodyMelanoma differentiation associated protein 5 AntibodyMelanoma differentiation-associated gene 5 AntibodyMelanoma differentiation-associated protein 5 AntibodyMGC133047 AntibodyMurabutide down regulated protein AntibodyMurabutide down-regulated protein AntibodyRH 116 AntibodyRH116 AntibodyRIG I like receptor 2 AntibodyRLR 2 AntibodyRNA helicase DEAD box protein 116 AntibodyRNA helicase-DEAD box protein 116 Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
