InnateDB Protein
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IDBP-387033.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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IFIH1
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Protein Name
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interferon induced with helicase C domain 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000408450
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InnateDB Gene
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IDBG-73750 (IFIH1)
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Protein Structure
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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. {ECO:0000269PubMed:14645903, ECO:0000269PubMed:19211564, ECO:0000269PubMed:19656871, ECO:0000269PubMed:21217758, ECO:0000269PubMed:21742966}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:11805321, ECO:0000269PubMed:14645903}. Nucleus {ECO:0000305}. Note=May be found in the nucleus, during apoptosis.
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Disease Associations |
Diabetes mellitus, insulin-dependent, 19 (IDDM19) [MIM:610155]: 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. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.Note=IFIH1 is the CADM-140 autoantigen, involved in clinically amyopathic dermatomyositis (CADM). This is a chronic inflammatory disorder that shows typical skin manifestations of dermatomyositis but has no or little evidence of clinical myositis. Anti-CADM-140 antibodies appear to be specific to dermatomyositis, especially CADM. Patients with anti-CADM-140 antibodies frequently develop life-threatening acute progressive interstitial lung disease (ILD).
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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. {ECO:0000269PubMed:11805321, ECO:0000269PubMed:12015121, ECO:0000269PubMed:14645903}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
44
[view]
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Protein-Protein |
42
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001315
CARD domain
IPR011029
Death-like domain
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PFAM |
PF00619
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PRINTS |
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PIRSF |
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SMART |
SM00114
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BYX4
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PhosphoSite |
PhosphoSite-Q9BYX4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
64135
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UniGene |
Hs.163173
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RefSeq |
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HUGO |
HGNC:18873
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OMIM |
606951
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CCDS |
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HPRD |
09507
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IMGT |
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EMBL |
AF095844
AK056293
AY017378
BC046208
BC078180
BC111750
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GenPept |
AAG34368
AAG54076
AAH46208
AAH78180
AAI11751
BAB71141
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