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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IFIH1 Gene

protein-coding   GIFtS: 63
GCID: GC02M163123

interferon induced with helicase C domain 1
 Explore 37 diseases affiliated with
IFIH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IFIH1    

Aliases
for IFIH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Interferon Induced With Helicase C Domain 11 2     RIG-I-Like Receptor 22 3
MDA51 2 3 5     RNA Helicase-DEAD Box Protein 1162 3
MDA-51 2 3     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide2
Hlcd1 2     Helicard3
IDDM191 2     Interferon-Induced Helicase C Domain-Containing Protein 12
Clinically Amyopathic Dermatomyositis Autoantigen 140 KDa2 3     Melanoma Differentiation Associated Protein-52
Helicase With 2 CARD Domains2 3     EC 3.6.4.133
Melanoma Differentiation-Associated Protein 52 3     Helicard3
Murabutide Down-Regulated Protein2 3     RH1163
RLR-22 3     Interferon-Induced With Helicase C Domain Protein 13
CADM-140 Autoantigen2 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


Summaries
for IFIH1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IFIH1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: IFIH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFIH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for IFIH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Nucleus (Potential). Note=May be found in the nucleus, during apoptosis
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYX4

    • IFIH1 Protein expression data from MOPED and PaxDb:    About this image 
    IFIH1 Protein Expression
    REFSEQ proteins: NP_071451.2  
    ENSEMBL proteins: 
     ENSP00000263642   ENSP00000408450   ENSP00000440118  
    Reactome Protein details: Q9BYX4
    Human Recombinant Protein Products for IFIH1: 
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    Novus Biologicals IFIH1 Proteins
    Novus Biologicals IFIH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for IFIH1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    IFIH1 for ontologies           About GeneDecksing



    IFIH1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of IFIH1
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    Novus Biologicals IFIH1 Antibodies
    Abcam antibodies for IFIH1 
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    ThermoFisher Antibodies for IFIH1

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    Enzo Life Sciences assays for IFIH1
    Uscn ELISAs and CLIAs for IFIH1

    Protein Domains /
    Families
    for IFIH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IFIH1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR006935 Helicase/UvrB_dom
     IPR011029 DEATH-like_dom
     IPR021673 RIG-I_C-RD
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q9BYX4

    ProtoNet protein and cluster: Q9BYX4

    1 Blocks protein family: 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


    Function
    for IFIH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003725double-stranded RNA binding TAS17079289
    GO:0003727single-stranded RNA binding IDA19656871
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI16127453
         
    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:
         Mouse knock-outs for IFIH1: Ifih1tm1Aki Ifih1tm1.1Cln
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for IFIH1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: IFIH1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFIH1 (see all 7)
    OriGene shRNA RFP: IFIH1
    OriGene siRNA: IFIH1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against IFIH1 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for IFIH1
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFIH1


    Pathways & Interactions
    for IFIH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1RNF125 mediated ubiquitination of RIG-I, MDA5 and IPS-1
    		RNF125 mediated ubiquitination of RIG-I, MDA5 and IPS-11.00
    		Immune System0.70
    		RNF125 mediated ubiquitination of RIG-I, MDA5 and IPS-10.88
    2RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    		RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways1.00
    		Negative regulators of RIG-I/MDA5 signaling0.49
    		RIG-I-like receptor signaling pathway0.52
    3Immune System
    		Immune System1.00
    		Innate Immune System0.46
    4Negative regulation of RIG-I/MDA5 signaling by TRIAD3A
    		Negative regulation of RIG-I/MDA5 signaling by TRIAD3A1.00
    		Negative regulation of RIG-I/MDA5 signaling by DUBA0.91
    5Measles
    		Measles1.00
    		Influenza A0.35

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/13        Reactome Pathways for IFIH1 (see all 13)
        NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    TRAF3-dependent IRF activation pathway
    Immune System
    RNF125 mediated ubiquitination of RIG-I, MDA5 and IPS-1


    3         Kegg Pathways  (Kegg details for IFIH1):
        RIG-I-like receptor signaling pathway
    Measles
    Influenza A


    IFIH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IFIH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/20 Interacting proteins for IFIH1 (Q9BYX42, 3 ENSP000002636424) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG12O948173, ENSP000002744594I2D: score=1 STRING: ENSP00000274459
    MAVSQ7Z4343, ENSP000004019804I2D: score=4 STRING: ENSP00000401980
    RNF125Q96EQ83, ENSP000002177404I2D: score=1 STRING: ENSP00000217740
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    DHX58Q96C103, ENSP000002516424I2D: score=1 STRING: ENSP00000251642
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009597detection of virus TAS17079289
    GO:0009615response to virus TAS--
    GO:0016925protein sumoylation IDA--
    GO:0019048virus-host interaction IEA--
    GO:0032480negative regulation of type I interferon production TAS--

    IFIH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IFIH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IFIH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for IFIH1

    Browse Tocris compounds for IFIH1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about IFIH1 

    Transcripts
    for IFIH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263642(uc002uce.3) ENST00000464129 ENST00000421365(uc002ucf.3)
    ENST00000543192

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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/76 AceView cDNA sequences (see all 76):

    BC078180 BC046208 BM464502 BC007966 NM_022168 AA650629 AF095844 BM476961 
    BU902097 BG391418 BX492926 BU189982 BQ772836 BQ233683 AI783469 BF337464 
    CA423868 BQ960157 CB151725 BQ311714 BF983236 AW779876 AY017378 AK056293 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for IFIH1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IFIH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACAAAAAA
    IFIH1 Expression
    About this image

    IFIH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Primordial germ cell-like cells (Reconstitution of mo...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See IFIH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFIH1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including IFIH1: 
              Antiviral Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Type I Interferon Response in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFIH1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFIH1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFIH1

    Orthologs
    for IFIH1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for IFIH1 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves IFIH11 interferon induced with helicase C domain 1 68.25(n)
    63.32(a)    		   424185  NM_001193638.1  NP_001180567.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 65(a)
    58(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343359.1(401994-408339)
    GL343359.1(372755-399475)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5657591 novel protein similar to vertebrate interferon induced more 57.14(n)
    52.95(a)    		   565759  XM_689032.3  XP_694124.3 
    honey bee
    (Apis mellifera)    		 Insecta --
    --
    		 --
    		 24(a)
    22(a)
    		 possible ortholog
    possible ortholog
    		 GroupUn.1622(2513-3846)
    GroupUn.1622(2513-3888)


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

    Paralogs
    for IFIH1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    Genomic Variants
    for IFIH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/891 NCBI SNPs in IFIH1 are shown (see all 891)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs118914131,2
    		H--155006487(+) CTACAC/TGGCAT 1 -- int14Minor allele frequency- T:0.00NS EA 410
    rs37616511,2
    		H--155006532(-) CCTTAG/TTTGCA 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs177647701,2
    		C,F,H--155006608(+) GTTGGT/CTATAT 1 -- int19Minor allele frequency- C:0.02NA NS EA 668
    rs75785761,2
    		C,A--155007570(+) ttttcG/Atattt 1 -- int12Minor allele frequency- A:0.33CSA 3
    rs76050941,2
    		C,F,A,H--155007623(+) aaattC/Tttgat 1 -- int17Minor allele frequency- T:0.14NS EA WA CSA 387
    rs75789281,2
    		C,F,A,H--155007904(+) AAACCA/GCTAGT 1 -- int112Minor allele frequency- G:0.21NS EA NA WA CSA 659
    rs67607851,2
    		C,F,A,H--155008082(+) CTTTCG/ACCCTT 1 -- int16Minor allele frequency- A:0.04NS EA NA WA 536
    rs793744211,2
    		--155008208(+) AAGGCC/ATGGAT 1 -- int12Minor allele frequency- A:0.21CSA WA 120
    rs134081151,2
    		C,F--155008577(+) CTCTAC/AATTTT 1 -- int14Minor allele frequency- A:0.47WA CSA 123
    rs133854901,2
    		C,F--155008924(+) ATAGTA/CAAGGA 1 -- int14Minor allele frequency- C:0.45WA CSA 123

    HapMap Linkage Disequilibrium report for IFIH1 (163123589 - 163175213 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for IFIH1
         1 CNV: 4314
    Human Gene Mutation Database (HGMD): IFIH1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFIH1
    DNA2.0 Custom Variant and Variant Library Synthesis for IFIH1

    Disorders / Diseases
    for IFIH1 gene

    (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.)
    About This Section
    IFIH1 for disorders           About GeneDecksing

    OMIM gene information: 606951    OMIM disorders: --

    UniProtKB/Swiss-Prot: IFIH1_HUMAN, Q9BYX4
  • Genetic variation in IFIH1 is associated with diabetes mellitus insulin-dependent type 19 (IDDM19)
    • [MIM:610155]. A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis
    in the absence of insulin therapy. Clinical fetaures 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=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)

    20/37 diseases for IFIH1 (see all 37):    About MalaCards
    amyopathic dermatomyositis    melanoma    diabetes mellitus    dermatomyositis
    subacute sclerosing panencephalitis    parainfluenza virus type 3    biliary atresia    systemic lupus erythematosus
    lupus erythematosus    interstitial lung disease    hepatitis c    herpes simplex
    mumps    autoimmune thyroiditis    celiac disease    graves' disease
    polymyositis    rheumatoid arthritis    multiple sclerosis    myositis

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

    7 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: IFIH1 (32 documents)

    Export disorders for IFIH1 gene to outside databases

    Publications
    for IFIH1 gene

    (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)
    About This Section

    PubMed articles for IFIH1 gene, integrated from 9 sources (see all 185):
    (articles sorted by number of sources associating them with IFIH1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2002)
    2. 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. (2004)
    3. 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. (2003)
    4. RNA helicase encoded by melanoma differentiation-asso ciated gene 5 is a major autoantigen in patients with clinically amyopathic der matomyositis: Association with rapidly progressive interstitial lung disease. (PubMed id 19565506)1, 2, 9 Sato S....Kuwana M. (2009)
    5. 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. (2009)
    6. 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, 9 Smyth D.J.... Todd J.A. (2006)
    7. MDA5 is SUMOylated by PIAS2I^ in the upregulation of t ype I interferon signaling. (PubMed id 21156324)1, 2 Fu J....Tang H. (2011)
    8. Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition. (PubMed id 22160685)1, 2 Peisley A.... Hur S. (2011)
    9. Activation of MDA5 requires higher-order RNA structure s generated during virus infection. (PubMed id 19656871)1, 2 Pichlmair A....Reis e Sousa C. (2009)
    10. Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2. (PubMed id 19211564)1, 2 Bamming D. and Horvath C.M. (2009)

    External Searches for IFIH1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IFIH1 gene

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

    Other Databases showing IFIH1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IFIH1 gene

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

    Intellectual Property
    for IFIH1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

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