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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
p21.1
Chromosome location (bp)
32455302 - 32526208
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and pro-inflammatory cytokines 1,2,3,4,5,6,7,8,9,10,11,12,13,14. Forms a ribonucleoprotein complex with viral RNAs on which it homooligomerizes to form filaments 15,16. The homooligomerization allows the recruitment of RNF135 an E3 ubiquitin-protein ligase that activates and amplifies the RIG-I-mediated antiviral signaling in an RNA length-dependent manner through ubiquitination-dependent and -independent mechanisms 17,18. Upon activation, associates with mitochondria antiviral signaling protein (MAVS/IPS1) that activates the IKK-related kinases TBK1 and IKBKE which in turn phosphorylate the interferon regulatory factors IRF3 and IRF7, activating transcription of antiviral immunological genes including the IFN-alpha and IFN-beta interferons 19,20. Ligands include 5'-triphosphorylated ssRNAs and dsRNAs but also short dsRNAs (<1 kb in length) 21,22,23,24,25. In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential 26,27,28,29,30. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity 31,32,33,34,35. A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity 36,37,38,39,40. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV) 41,42. It also detects rotaviruses and reoviruses 43,44. Detects and binds to SARS-CoV-2 RNAs which is inhibited by m6A RNA modifications (Ref.67). Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV) 45. Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Helicase, Hydrolase, RNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002230[positive regulation of defense response to virus by host] GO:0002376[immune system process] GO:0002735[positive regulation of myeloid dendritic cell cytokine production] GO:0002753[cytoplasmic pattern recognition receptor signaling pathway] GO:0003676[nucleic acid binding] GO:0003723[RNA binding] GO:0003724[RNA helicase activity] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005525[GTP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0008270[zinc ion binding] GO:0009597[detection of virus] GO:0009615[response to virus] GO:0010628[positive regulation of gene expression] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0030334[regulation of cell migration] GO:0031625[ubiquitin protein ligase binding] GO:0032587[ruffle membrane] GO:0032725[positive regulation of granulocyte macrophage colony-stimulating factor production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0034344[regulation of type III interferon production] GO:0039529[RIG-I signaling pathway] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043330[response to exogenous dsRNA] GO:0045087[innate immune response] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051607[defense response to virus] GO:0060760[positive regulation of response to cytokine stimulus] GO:0070161[anchoring junction] GO:0071360[cellular response to exogenous dsRNA] GO:0140374[antiviral innate immune response] GO:1990904[ribonucleoprotein complex]
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002230[positive regulation of defense response to virus by host] GO:0002376[immune system process] GO:0002735[positive regulation of myeloid dendritic cell cytokine production] GO:0002753[cytoplasmic pattern recognition receptor signaling pathway] GO:0003676[nucleic acid binding] GO:0003690[double-stranded DNA binding] GO:0003723[RNA binding] GO:0003724[RNA helicase activity] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005525[GTP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0008270[zinc ion binding] GO:0009597[detection of virus] GO:0009615[response to virus] GO:0010467[gene expression] GO:0010628[positive regulation of gene expression] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0030334[regulation of cell migration] GO:0031625[ubiquitin protein ligase binding] GO:0032587[ruffle membrane] GO:0032725[positive regulation of granulocyte macrophage colony-stimulating factor production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0034344[regulation of type III interferon production] GO:0039529[RIG-I signaling pathway] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043330[response to exogenous dsRNA] GO:0045087[innate immune response] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051607[defense response to virus] GO:0060760[positive regulation of response to cytokine stimulus] GO:0070161[anchoring junction] GO:0071360[cellular response to exogenous dsRNA] GO:0140374[antiviral innate immune response] GO:1990904[ribonucleoprotein complex]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
