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

IFIH1 Gene

protein-coding   GIFtS: 66
GCID: GC02M163123

Interferon Induced With Helicase C Domain 1

Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 dermatomyositis, and amyopathic dermatomyositis, and among its related super-pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Innate Immune System. GO annotations related to this gene include double-stranded RNA binding and single-stranded RNA binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  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 plasmidIFIH1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for IFIH1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • UniProtKB: Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta
  • UniProtKB: Ubiquitinated. USP17/UPS17L2-dependent deubiquitination positively regulates the receptor
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYX4

  • IFIH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IFIH1 Protein Expression
    REFSEQ proteins: NP_071451.2  
    ENSEMBL proteins: 
     ENSP00000263642   ENSP00000408450  
    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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IFIH1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    IFIH1 for ontologies           About GeneDecksing



    IFIH1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for IFIH1 
    Cloud-Clone Corp. CLIAs for IFIH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 5/13 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for IFIH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of IFIH1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFIH1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IFIH1 About   (see all 9)                                                                                              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 pathways0.52
    Negative regulators of RIG-I/MDA5 signaling0.49
    RIG-I-like receptor signaling pathway0.52
    2Immune System
    Immune System0.90
    Negative regulators of RIG-I/MDA5 signaling0.78
    Innate Immune System0.90
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.78
    3Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5TRAF6 mediated IRF7 activation
    TRAF6 mediated IRF7 activation0.45
    TRAF3-dependent IRF activation pathway0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    5/12        Reactome Pathways for IFIH1 (see all 12)
        NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
    Negative regulators of RIG-I/MDA5 signaling
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    TRAF3-dependent IRF activation pathway
    Immune System


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IFIH1

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

    5/21 Interacting proteins for IFIH1 (Q9BYX41, 2, 3 ENSP000002636424) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    IFIH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about IFIH1

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263642(uc002uce.3) ENST00000464129 ENST00000421365(uc002ucf.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    BC007966 BG391418 BU189982 BQ233683 NM_022168 BC078180 BX492926 AF095844 
    BQ772836 AI783469 BM464502 BC046208 BM476961 AA650629 BU902097 AI718277 
    BQ311714 AI922705 AW779876 BX476433 BF337464 BM467983 AI806204 AY017378 

    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

    (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)      IFIH1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Uterus (Reproductive System)

    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

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for IFIH1 gene from 6/12 species (see all 12)    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 81.38(n)1
    79.88(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 68.25(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)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea drh-16
    drh-36
    Protein DRH-3
    20(a)
    18(a)
    many ↔ many
    many ↔ many
    IV(6607377-6613353)
    I(7820843-7826380)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MPH16
    Member of the DEAH family of helicases, functions ...
    11(a)
    1 → many
    IX(357415-360396)


    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)
    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


    (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) 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

    10/1101 SNPs in IFIH1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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)

  • 20/39 diseases for IFIH1 (see all 39):    About MalaCards
    dermatomyositis    amyopathic dermatomyositis    parainfluenza virus type 3    melanoma
    interstitial lung disease    subacute sclerosing panencephalitis    west nile virus    mumps
    biliary atresia    measles    diabetes mellitus    influenza
    polymyositis    vaccinia    autoimmune thyroiditis    gout
    graves' disease    vasculitis    celiac disease    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)
    About This Section

    PubMed articles for IFIH1 gene, integrated from 9 sources (see all 200):
    (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. (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. (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. (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. (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. (2009)
    6. 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)
    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. (2009)
    8. The interferon-induced helicase IFIH1 Ala946Thr polym orphism is associated with type 1 diabetes in both the high-incidence Finnish a nd the medium-incidence Hungarian populations. (PubMed id 19841890)1, 4, 9 Jermendy A....Hermann R. (2010)
    9. MDA5 is SUMOylated by PIAS2I^ in the upregulation of t ype I interferon signaling. (PubMed id 21156324)1, 2 Fu J....Tang H. (2011)
    10. Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition. (PubMed id 22160685)1, 2 Peisley A.... Hur S. (2011)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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