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    IFIH1 interferon induced with helicase C domain 1 [ Homo sapiens (human) ]

    Gene ID: 64135, updated on 26-Jul-2021

    Summary

    Official Symbol
    IFIH1provided by HGNC
    Official Full Name
    interferon induced with helicase C domain 1provided by HGNC
    Primary source
    HGNC:HGNC:18873
    See related
    Ensembl:ENSG00000115267 MIM:606951
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGS7; Hlcd; MDA5; MDA-5; RLR-2; IDDM19; SGMRT1
    Summary
    IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in spleen (RPKM 10.9), appendix (RPKM 9.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IFIH1 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (162267074..162318684, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (163123584..163175194, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929532 Neighboring gene uncharacterized LOC105373724 Neighboring gene fibroblast activation protein alpha Neighboring gene grancalcin Neighboring gene potassium voltage-gated channel subfamily H member 7 Neighboring gene RNA, 5S ribosomal pseudogene 109

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    GeneReviews: Not available
    Aicardi-Goutieres syndrome 7
    MedGen: C3888244 OMIM: 615846 GeneReviews: Aicardi-Goutieres Syndrome
    Compare labs
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    GeneReviews: Not available
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    GeneReviews: Not available
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    GeneReviews: Not available
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    GeneReviews: Not available
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    GeneReviews: Not available
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    GeneReviews: Not available
    Singleton-Merten syndrome 1
    MedGen: C4225427 OMIM: 182250 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates the gene expression of IFIH1 in human monocyte-derived dendritic cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC133047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribonucleoprotein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in MDA-5 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to exogenous dsRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cytoplasmic pattern recognition receptor signaling pathway in response to virus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of virus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of response to cytokine stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of type III interferon production TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to virus TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    interferon-induced helicase C domain-containing protein 1
    Names
    CADM-140 autoantigen
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide
    RIG-I-like receptor 2
    RNA helicase-DEAD box protein 116
    clinically amyopathic dermatomyositis autoantigen 140 kDa
    helicard
    helicase with 2 CARD domains
    melanoma differentiation-associated gene 5
    melanoma differentiation-associated protein 5
    murabutide down-regulated protein
    NP_071451.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011495.1 RefSeqGene

      Range
      4846..56456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1235

    mRNA and Protein(s)

    1. NM_022168.4NP_071451.2  interferon-induced helicase C domain-containing protein 1

      See identical proteins and their annotated locations for NP_071451.2

      Status: REVIEWED

      Source sequence(s)
      AC007750, AF095844, BC046208, BC111750
      Consensus CDS
      CCDS2217.1
      UniProtKB/Swiss-Prot
      Q9BYX4
      Related
      ENSP00000497271.1, ENST00000649979.2
      Conserved Domains (7) summary
      COG1111
      Location:306873
      MPH1; ERCC4-related helicase [Replication, recombination and repair]
      cd08818
      Location:899
      CARD_MDA5_r1; Caspase activation and recruitment domain found in MDA5, first repeat
      cd08819
      Location:111201
      CARD_MDA5_r2; Caspase activation and recruitment domain found in MDA5, second repeat
      cd15807
      Location:9001015
      MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor
      cd12090
      Location:548694
      MDA5_ID; Insert domain of MDA5
      pfam00271
      Location:698823
      Helicase_C; Helicase conserved C-terminal domain
      pfam04851
      Location:305491
      ResIII; Type III restriction enzyme, res subunit

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      162267074..162318684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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