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IFIH1 Gene

protein-coding   GIFtS: 67
GCID: GC02M163123

Interferon Induced With Helicase C Domain 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interferon Induced With Helicase C Domain 11 2     RNA Helicase-DEAD Box Protein 1162 3
MDA52 3 5     Hlcd2
helicard1 2     IDDM192
Clinically Amyopathic Dermatomyositis Autoantigen 140 KDa2 3     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide2
Helicase With 2 CARD Domains2 3     Interferon-Induced Helicase C Domain-Containing Protein 12
Melanoma Differentiation-Associated Protein 52 3     Melanoma Differentiation Associated Protein-52
Murabutide Down-Regulated Protein2 3     EC 3.6.4.133
MDA-52 3     Helicard3
RLR-22 3     RH1163
CADM-140 Autoantigen2 3     Interferon-Induced With Helicase C Domain Protein 13
RIG-I-Like Receptor 22 3     

External Ids:    HGNC: 188731   Entrez Gene: 641352   Ensembl: ENSG000001152677   OMIM: 6069515   UniProtKB: Q9BYX43   

Export aliases for IFIH1 gene to outside databases

Previous GC identifers: GC02M163327 GC02M162949 GC02M162831 GC02M155005


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFIH1 Gene:
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They
are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their
distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis,
and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to
treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming
of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves
reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent
type 19. (provided by RefSeq, Jul 2012)

GeneCards Summary for IFIH1 Gene:
IFIH1 (interferon induced with helicase C domain 1) is a protein-coding gene. Diseases associated with IFIH1 include amyopathic dermatomyositis, and dermatomyositis. GO annotations related to this gene include single-stranded RNA binding and helicase activity. An important paralog of this gene is DHX58.

UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4
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

Gene Wiki entry for IFIH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFIH1 gene promoter:
         Nkx3-1   c-Rel   STAT1   FOXC1   AML1a   Ik-3   FOXL1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFIH1 promoter sequence
   Search Chromatin IP Primers for IFIH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFIH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.2

IFIH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFIH1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M163123:  view genomic region     (about GC identifiers)

Start:
163,123,589 bp from pter      End:
163,175,213 bp from pter
Size:
51,625 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4 (See protein sequence)
Recommended Name: Interferon-induced helicase C domain-containing protein 1  
Size: 1025 amino acids; 116689 Da
Cofactor: Zinc
Subunit: Monomer in the absence of ligands and homodimerizes in the presence of dsRNA ligands. Can assemble into
helical or linear polymeric filaments on long dsRNA. Interacts with MAVS/IPS1. Interacts with V protein of Simian
virus 5, Human parainfluenza virus 2, Mumps virus, Sendai virus and Hendra virus. Binding to paramyxoviruses V
proteins prevents IFN-beta induction, and the further establishment of an antiviral state. Interacts with PCBP2.
Interacts with NLRC5. Interacts with PIAS2-beta. Interacts with DDX60
Miscellaneous: In HIV-1 infected HeLa-CD4 cells, overexpression of IFIH1 results in a great increase in the level
of secreted viral p24 protein
Sequence caution: Sequence=AAH78180.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAB71141.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for IFIH1:
2RQB (3D)        3B6E (3D)        3GA3 (3D)        4GL2 (3D)    
Secondary accessions: Q2NKL6 Q6DC96 Q86X56 Q96MX8 Q9H3G6
Alternative splicing: 2 isoforms:  Q9BYX4-1   Q9BYX4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IFIH1: NX_Q9BYX4

Explore proteomics data for IFIH1 at MOPED

Post-translational modifications: 

  • During apoptosis, processed into 3 cleavage products. The helicase-containing fragment, once liberated from the
    CARD domains, translocate from the cytoplasm to the nucleus. The processed protein significantly sensitizes cells
    to DNA degradation (By similarity)1
  • Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta1
  • Ubiquitinated. USP17/UPS17L2-dependent deubiquitination positively regulates the receptor1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See IFIH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071451.2  
    ENSEMBL proteins: 
     ENSP00000263642   ENSP00000408450  
    Reactome Protein details: Q9BYX4

    IFIH1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for IFIH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR006935 Helicase/UvrB_dom
     IPR011029 DEATH-like_dom
     IPR027417 P-loop_NTPase
     IPR021673 RIG-I_C-RD
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry Q9BYX4

    ProtoNet protein and cluster: Q9BYX4

    1 Blocks protein domain: IPB001315 CARD interaction domain

    UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4
    Similarity: Belongs to the helicase family. RLR subfamily
    Similarity: Contains 2 CARD domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    IFIH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IFIH1_HUMAN, Q9BYX4
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Induction: By interferon (IFN) and TNF

         Enzyme Number (IUBMB): EC 3.6.4.131

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003725double-stranded RNA binding TAS17079289
    GO:0003727single-stranded RNA binding IDA19656871
    GO:0004386helicase activity IEA--
         
    IFIH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IFIH1:
     Decreased viability of wild-ty 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ifih1):
     cellular  homeostasis/metabolism  immune system  mortality/aging 

    IFIH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IFIH1: Ifih1tm1Aki Ifih1tm1.1Cln

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFIH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IFIH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFIH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFIH1

    miRNA
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    miRTarBase miRNAs that target IFIH1:
    hsa-mir-29b-3p (MIRT048368), hsa-mir-15b-5p (MIRT046462), hsa-mir-424-5p (MIRT042455), hsa-mir-26b-5p (MIRT029703)

    Block miRNA regulation of human, mouse, rat IFIH1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate IFIH1
    SwitchGear 3'UTR luciferase reporter plasmidIFIH1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFIH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IFIH1_HUMAN, Q9BYX4: Cytoplasm. Nucleus (Potential). Note=May be found in the nucleus, during apoptosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    plasma membrane2
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    IFIH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IFIH1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.47
    TRAF6 mediated IRF7 activation0.40
    RIG-I-like receptor signaling pathway0.47
    TRAF3-dependent IRF activation pathway0.00
    Negative regulators of RIG-I/MDA5 signaling0.42
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -100.00
    2Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    3Cytosolic sensors of pathogen-associated DNA
    TRAF6 mediated NF-kB activation0.55
    4Toll-like receptor signaling pathway
    Hepatitis B0.31
    5NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for IFIH1
        Lymphocyte Signaling
    NF-kappaB Signaling


    Selected Reactome Pathways for IFIH1 (see all 6)
        NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
    TRAF3-dependent IRF activation pathway
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Negative regulators of RIG-I/MDA5 signaling
    TRAF6 mediated IRF7 activation


    5 Kegg Pathways  (Kegg details for IFIH1):
        RIG-I-like receptor signaling pathway
    Hepatitis B
    Measles
    Influenza A
    Herpes simplex infection


    IFIH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFIH1: 
              Antiviral Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Type I Interferon Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IFIH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IFIH1 (Q9BYX41, 2, 3 ENSP000002636424) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAVSQ7Z4341, 3, ENSP000004019804EBI-6115771,EBI-995373 I2D: score=4 STRING: ENSP00000401980
    ATG12O948173, ENSP000002744594I2D: score=1 STRING: ENSP00000274459
    RNF125Q96EQ83, ENSP000002177404I2D: score=1 STRING: ENSP00000217740
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    DHX58Q96C103, ENSP000002516424I2D: score=1 STRING: ENSP00000251642
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009597detection of virus TAS17079289
    GO:0009615response to virus TAS--
    GO:0016032viral process IEA--
    GO:0016925protein sumoylation IDA--
    GO:0019048modulation by virus of host morphology or physiology ----

    IFIH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for IFIH1
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFIH1

    2 Novoseek inferred chemical compound relationships for IFIH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polyinosinic-polycytidylic acid 65.2 2 19769732 (1), 19669308 (1), 18941247 (1), 17928888 (1)
    retinoic acid 52.7 13 16797201 (2), 19386802 (1), 18971330 (1), 18632970 (1) (see all 10)



    IFIH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IFIH1 gene: 
    NM_022168.3  

    Unigene Cluster for IFIH1:

    Interferon induced with helicase C domain 1
    Hs.163173  [show with all ESTs]
    Unigene Representative Sequence: NM_022168
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263642(uc002uce.3) ENST00000464129 ENST00000421365(uc002ucf.3)

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      QuantiFast Probe-based Assays in human, mouse, rat IFIH1

    Additional mRNA sequence: 

    AF095844.1 AK056293.1 AK292941.1 AK314611.1 AL080107.1 AY017378.1 BC007966.2 BC046208.1 
    BC078180.1 BC111750.1 

    9 DOTS entries:

    DT.211382  DT.91910077  DT.91638689  DT.40125058  DT.95365356  DT.100755538  DT.120948751  DT.120948780 
    DT.40122158 

    Selected AceView cDNA sequences (see all 76):

    BX492926 BC046208 BM464502 BC007966 BU189982 AF095844 AA650629 NM_022168 
    BC078180 BQ233683 BQ772836 AI783469 BG391418 BM476961 BU902097 AW779876 
    AW152541 BQ960157 AI718277 BF337464 AK056293 BM467983 AI922705 BQ311714 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IFIH1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a ·
    SP1:                    -     -                       -           -                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                              -                                                                                             
    SP4:                                                              -                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 17b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for IFIH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IFIH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACAAAAAA
    IFIH1 Expression
    About this image


    IFIH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Primordial Germ Cells Primitive Gonad
             Primordial germ cell-like cells
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Arteries
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    IFIH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFIH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.163173

    UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFIH1: 
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              Type I Interferon Response in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for IFIH1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ifih11 , 5 interferon induced with helicase C domain 11, 5 81.18(n)1
    79.69(a)1
      2 (35.85 cM)5
    715861  NM_027835.31  NP_082111.21 
     625957985 
    chicken
    (Gallus gallus)
    Aves IFIH11 interferon induced with helicase C domain 1 68.22(n)
    63.32(a)
      424185  NM_001193638.1  NP_001180567.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFIH16
    interferon induced with helicase C domain 1
    60(a)
    1 ↔ 1
    GL343359.1(372473-409544)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ifih11 interferon induced with helicase C domain 1 61.16(n)
    56.31(a)
      100488298  XM_002933274.2  XP_002933320.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5657591 novel protein similar to vertebrate interferon induced more 57.07(n)
    52.71(a)
      565759  XM_689032.4  XP_694124.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dcr-26
    Dicer-2
    7(a)
    many ↔ many
    2R(13462484-13469031)
    worm
    (Caenorhabditis elegans)
    Secernentea drh-16
    drh-36
    Protein DRH-3 (drh-3) mRNA, complete cds
    21(a)
    19(a)
    many ↔ many
    many ↔ many
    IV(6607377-6613353) WBGene00001090
    I(7820843-7826380) WBGene00008400


    ENSEMBL Gene Tree for IFIH1 (if available)
    TreeFam Gene Tree for IFIH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IFIH1 gene
    DHX582  DICER12  DDX582  
    2 SIMAP similar genes for IFIH1 using alignment to 1 protein entry:     IFIH1_HUMAN:
    MDA5    DHX58

    IFIH1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IFIH1
    PGOHUM00000235459


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IFIH1 (see all 1101)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866641731,2
    --162519969(+) GAGAAC/TACAGT 1 -- ds50010--------
    rs1927611691,2
    --162520001(+) ATTTTA/GTGAGA 1 -- ds50010--------
    rs1468619381,2
    --162520049(+) CATGTA/GTTATA 1 -- ds50010--------
    rs118911911,2
    C,F,H--162520498(+) TCAATC/TAAGTG 1 -- ut3118Minor allele frequency- T:0.21NA NS EA WA CSA 1455
    rs1510373701,2
    C--162520582(+) TTTTTA/C/GTATTG 3 Y * stg1 syn11NA 4516
    rs741620901,2
    C--162520620(-) ATTTTG/TTAGTG 2 V L mis10--------
    rs741620891,2
    C,F--162520636(-) TGTCTC/TAAAAT 2 L syn12Minor allele frequency- T:0.00NA EU 5801
    rs1145416101,2
    C,F--162520687(+) GCCTGG/AAAAAC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1453814081,2
    C--162520766(+) TGGCCC/TACAGC 1 -- int10--------
    rs2020099441,2
    C--162520788(+) CTGGCC/TACATT 2 S G mis10--------

    HapMap Linkage Disequilibrium report for IFIH1 (163123589 - 163175213 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IFIH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4353n71CNV Loss21882294
    nsv875354CNV Loss21882294
    nsv834440CNV Gain17160897

    Human Gene Mutation Database (HGMD): IFIH1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFIH1
    DNA2.0 Custom Variant and Variant Library Synthesis for IFIH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606951    OMIM disorders: --

    UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4
  • 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)

  • Selected diseases for IFIH1 (see all 46):    
    About MalaCards
    amyopathic dermatomyositis    dermatomyositis    melanoma    parainfluenza virus type 3
    subacute sclerosing panencephalitis    mumps    west nile virus    interstitial lung disease
    biliary atresia    diabetes mellitus    influenza    polymyositis
    measles    addison's disease    vitiligo    autoimmune thyroiditis
    gout    vasculitis    vaccinia    hepatitis c

    1 disease from the University of Copenhagen DISEASES database for IFIH1:
    Diabetes mellitus

    IFIH1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for IFIH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 71.1 55 11805321 (4), 19620789 (2), 14676839 (2), 17142768 (1) (see all 41)
    virus infection 67.6 10 18971330 (1), 19837110 (1), 19492158 (1), 17651439 (1) (see all 9)
    influenza 19.5 3 16797201 (3)
    hepatitis c 18.2 1 16116171 (1)
    inflammation 0 1 19005739 (1)
    tumors 0 1 11805321 (1)
    cancer 0 2 14676839 (1), 11805321 (1)

    Genetic Association Database (GAD): IFIH1
    Human Genome Epidemiology (HuGE) Navigator: IFIH1 (32 documents)

    Export disorders for IFIH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFIH1 gene, integrated from 10 sources (see all 207):
    (articles sorted by number of sources associating them with IFIH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. (PubMed id 16699517)1, 2, 4, 9 Smyth D.J.... Todd J.A. (Nat. Genet. 2006)
    2. mda-5: an interferon-inducible putative RNA helicase with double- stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties. (PubMed id 11805321)1, 2, 9 Kang D.-C....Fisher P.B. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. The V proteins of paramyxoviruses bind the IFN-inducible RNA helicase, mda-5, and inhibit its activation of the IFN-beta promoter. (PubMed id 15563593)1, 2, 9 Andrejeva J.... Randall R.E. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. A novel cellular RNA helicase, RH116, differentially regulates cell growth, programmed cell death and human immunodeficiency virus type 1 replication. (PubMed id 14645903)1, 2, 9 Cocude C.... Bahr G.M. (J. Gen. Virol. 2003)
    5. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. (PubMed id 19264985)1, 4, 9 Nejentsev S....Todd J.A. (Science 2009)
    6. RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: Association with rapidly progressive interstitial lung disease. (PubMed id 19565506)1, 2, 9 Sato S....Kuwana M. (Arthritis Rheum. 2009)
    7. Solution structures of cytosolic RNA sensor MDA5 and LGP2 C-terminal domains: identification of the RNA recognition loop in RIG-I-like receptors. (PubMed id 19380577)1, 2, 9 Takahasi K.... Inagaki F. (J. Biol. Chem. 2009)
    8. The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations. (PubMed id 19841890)1, 4, 9 Jermendy A.... . (Diabetologia 2010)
    9. MDA5 is SUMOylated by PIAS2? in the upregulation of type I interferon signaling. (PubMed id 21156324)1, 2 Fu J.... Tang H. (Mol. Immunol. 2011)
    10. Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition. (PubMed id 22160685)1, 2 Peisley A.... Hur S. (Proc. Natl. Acad. Sci. U.S.A. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64135 HGNC: 18873 AceView: IFIH1 Ensembl:ENSG00000115267 euGenes: HUgn64135
    ECgene: IFIH1 Kegg: 64135 H-InvDB: IFIH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFIH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IFIH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFIH1 gene:
    Search GeneIP for patents involving IFIH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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