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

Gene ID: 71586, updated on 21-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

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