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    Ifih1 interferon induced with helicase C domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 71586, updated on 28-Apr-2024

    Summary

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    Official Symbol
    Ifih1provided by MGI
    Official Full Name
    interferon induced with helicase C domain 1provided by MGI
    Primary source
    MGI:MGI:1918836
    See related
    Ensembl:ENSMUSG00000026896 AllianceGenome:MGI:1918836
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hlcd; MDA5; RLR-2; Helicard; 9130009C22Rik
    Summary
    Predicted to enable several functions, including RNA binding activity; identical protein binding activity; and zinc ion binding activity. Involved in innate immune response and response to virus. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome. Orthologous to human IFIH1 (interferon induced with helicase C domain 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 4.6), small intestine adult (RPKM 3.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 C1.3; 2 35.85 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (62426137..62476599, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (62595618..62646255, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene Gcg promoter region Neighboring gene glucagon Neighboring gene fibroblast activation protein Neighboring gene STARR-seq mESC enhancer starr_04642 Neighboring gene STARR-positive B cell enhancer ABC_E10108 Neighboring gene STARR-positive B cell enhancer ABC_E4458 Neighboring gene STARR-positive B cell enhancer ABC_E1006 Neighboring gene STARR-seq mESC enhancer starr_04644 Neighboring gene predicted gene, 39839 Neighboring gene STARR-seq mESC enhancer starr_04645 Neighboring gene soc-2 (suppressor of clear) homolog pseudogene Neighboring gene grancalcin Neighboring gene potassium voltage-gated channel, subfamily H (eag-related), member 7 Neighboring gene predicted gene, 22020

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Theilovirus 3C Protease Cleaves the C-Terminal Domain of the Innate Immune RNA Sensor, Melanoma Differentiation-Associated Gene 5, and Impairs Double-Stranded RNA-Mediated IFN Response. Miyamoto M, et al. J Immunol, 2023 Feb 1. PMID 36525065
    2. A Study on MDA5 Signaling in Splenic B Cells from an Imiquimod-Induced Lupus Mouse Model with Proteomics. Su YJ, et al. Cells, 2022 Oct 24. PMID 36359746, Free PMC Article
    3. Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model. Lee S, et al. Biochem Biophys Res Commun, 2022 Nov 12. PMID 36122455
    4. Melanoma differentiation-Associated gene 5 protects against NASH in mice. Zhang X, et al. Hepatology, 2022 Apr. PMID 34482560
    5. The innate immune receptor MDA5 limits rotavirus infection but promotes cell death and pancreatic inflammation. Dou Y, et al. EMBO J, 2017 Sep 15. PMID 28851763, Free PMC Article

    See all (160) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
      Title: The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
    2. MDA5 Enhances Invasive Candida albicans Infection by Regulating Macrophage Apoptosis and Phagocytosis/Killing Functions.
      Title: MDA5 Enhances Invasive Candida albicans Infection by Regulating Macrophage Apoptosis and Phagocytosis/Killing Functions.
    3. ADAR1p150 prevents MDA5 and PKR activation via distinct mechanisms to avert fatal autoinflammation.
      Title: ADAR1p150 prevents MDA5 and PKR activation via distinct mechanisms to avert fatal autoinflammation.
    4. MDA5 RNA-sensing pathway activation by Mycobacterium tuberculosis promotes innate immune subversion and pathogen survival.
      Title: MDA5 RNA-sensing pathway activation by Mycobacterium tuberculosis promotes innate immune subversion and pathogen survival.
    5. Long noncoding RNA 1392 regulates MDA5 by interaction with ELAVL1 to inhibit coxsackievirus B5 infection.
      Title: Long noncoding RNA 1392 regulates MDA5 by interaction with ELAVL1 to inhibit coxsackievirus B5 infection.
    6. Theilovirus 3C Protease Cleaves the C-Terminal Domain of the Innate Immune RNA Sensor, Melanoma Differentiation-Associated Gene 5, and Impairs Double-Stranded RNA-Mediated IFN Response.
      Title: Theilovirus 3C Protease Cleaves the C-Terminal Domain of the Innate Immune RNA Sensor, Melanoma Differentiation-Associated Gene 5, and Impairs Double-Stranded RNA-Mediated IFN Response.
    7. A Study on MDA5 Signaling in Splenic B Cells from an Imiquimod-Induced Lupus Mouse Model with Proteomics.
      Title: A Study on MDA5 Signaling in Splenic B Cells from an Imiquimod-Induced Lupus Mouse Model with Proteomics.
    8. Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model.
      Title: Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model.
    9. ADAR1 RNA editing regulates endothelial cell functions via the MDA-5 RNA sensing signaling pathway.
      Title: ADAR1 RNA editing regulates endothelial cell functions via the MDA-5 RNA sensing signaling pathway.
    10. Hepatic Macrophages Express Melanoma Differentiation-Associated Gene 5 in Nonalcoholic Steatohepatitis.
      Title: Hepatic Macrophages Express Melanoma Differentiation-Associated Gene 5 in Nonalcoholic Steatohepatitis.
    Submit: New GeneRIF Correction See all GeneRIFs (69)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC90959

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables RNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pattern recognition receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables ribonucleoprotein complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in MDA-5 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in MDA-5 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in antiviral innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within antiviral innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to exogenous dsRNA ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in defense response to virus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of viral genome replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of interferon-alpha production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of interferon-beta production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of interleukin-6 production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of response to cytokine stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of tumor necrosis factor production ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sumoylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to virus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interferon-induced helicase C domain-containing protein 1
    Names
    RIG-I-like receptor 2
    helicase with 2 CARD domains
    interferon induced with helicase C domain protein 1
    melanoma differentiation-associated protein 5
    NP_001157949.1
    NP_082111.2
    XP_006500250.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001164477.1 → NP_001157949.1  interferon-induced helicase C domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL929246
      Consensus CDS
      CCDS50594.1
      UniProtKB/TrEMBL
      D2CGM5
      Related
      ENSMUSP00000108078.4, ENSMUST00000112459.4
      Conserved Domains (6) summary
      COG1111
      Location:258 → 824
      MPH1; ERCC4-related helicase [Replication, recombination and repair]
      cd15807
      Location:851 → 966
      MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor
      cd12090
      Location:500 → 645
      MDA5_ID; Insert domain of MDA5
      pfam00271
      Location:659 → 774
      Helicase_C; Helicase conserved C-terminal domain
      pfam04851
      Location:257 → 443
      ResIII; Type III restriction enzyme, res subunit
      cl14633
      Location:8 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    2. NM_027835.3 → NP_082111.2  interferon-induced helicase C domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_082111.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK168646, AL929246, AY075132
      Consensus CDS
      CCDS16068.1
      UniProtKB/Swiss-Prot
      A2AUY7, Q3U6S2, Q68EM4, Q8BYC9, Q8BZ01, Q8K5C7, Q8R144, Q8R5F7, Q8VE79, Q99KS4, Q9D2Z5
      UniProtKB/TrEMBL
      D2CGM4, D2CGM5
      Related
      ENSMUSP00000028259.6, ENSMUST00000028259.12
      Conserved Domains (5) summary
      cd15807
      Location:900 → 1015
      MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor
      cd12090
      Location:549 → 694
      MDA5_ID; Insert domain of MDA5
      cd18802
      Location:696 → 834
      SF2_C_dicer; C-terminal helicase domain of the endoribonuclease Dicer
      cl14633
      Location:8 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains
      cl28899
      Location:307 → 522
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      62426137..62476599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500187.5 → XP_006500250.1  interferon-induced helicase C domain-containing protein 1 isoform X1

      Conserved Domains (4) summary
      cd15807
      Location:621 → 736
      MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor
      cd12090
      Location:270 → 415
      MDA5_ID; Insert domain of MDA5
      cd18802
      Location:417 → 555
      SF2_C_dicer; C-terminal helicase domain of the endoribonuclease Dicer
      cl28899
      Location:28 → 243
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R5F7.1 GenPept UniProtKB/Swiss-Prot:Q8R5F7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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