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Aliases for IFIH1 Gene

Aliases for IFIH1 Gene

  • Interferon Induced With Helicase C Domain 1 2 3
  • Helicard 2 3 4
  • MDA5 3 4 6
  • Clinically Amyopathic Dermatomyositis Autoantigen 140 KDa 3 4
  • Melanoma Differentiation-Associated Protein 5 3 4
  • Murabutide Down-Regulated Protein 3 4
  • RNA Helicase-DEAD Box Protein 116 3 4
  • Helicase With 2 CARD Domains 3 4
  • RIG-I-Like Receptor 2 3 4
  • CADM-140 Autoantigen 3 4
  • MDA-5 3 4
  • RLR-2 3 4
  • Interferon-Induced Helicase C Domain-Containing Protein 1 3
  • Interferon-Induced With Helicase C Domain Protein 1 4
  • Melanoma Differentiation Associated Protein-5 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 3
  • EC 3.6.4.13 4
  • IDDM19 3
  • SGMRT1 3
  • RH116 4
  • AGS7 3
  • Hlcd 3

External Ids for IFIH1 Gene

Summaries for IFIH1 Gene

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. Among its related pathways are Influenza A and Influenza A. GO annotations related to this gene include helicase activity and single-stranded RNA binding. An important paralog of this gene is DDX58.

UniProtKB/Swiss-Prot for IFIH1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFIH1 Gene

Genomics for IFIH1 Gene

Genomic Location for IFIH1 Gene

Start:
162,267,079 bp from pter
End:
162,318,708 bp from pter
Size:
51,630 bases
Orientation:
Minus strand

Genomic View for IFIH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFIH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFIH1 Gene

Regulatory Elements for IFIH1 Gene

Proteins for IFIH1 Gene

  • Protein details for IFIH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYX4-IFIH1_HUMAN
    Recommended name:
    Interferon-induced helicase C domain-containing protein 1
    Protein Accession:
    Q9BYX4
    Secondary Accessions:
    • Q2NKL6
    • Q6DC96
    • Q86X56
    • Q96MX8
    • Q9H3G6

    Protein attributes for IFIH1 Gene

    Size:
    1025 amino acids
    Molecular mass:
    116689 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • 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. Interacts with ANKRD17. Interacts with herpes simplex virus 1 protein US11; this interaction prevents the interaction of MAVS/IPS1 to IFIH1.
    Miscellaneous:
    • In HIV-1 infected HeLa-CD4 cells, overexpression of IFIH1 results in a great increase in the level of secreted viral p24 protein
    SequenceCaution:
    • Sequence=AAH78180.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB71141.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IFIH1 Gene

    Alternative splice isoforms for IFIH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFIH1 Gene

Proteomics data for IFIH1 Gene at MOPED

Post-translational modifications for IFIH1 Gene

  • 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).
  • Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta.
  • Ubiquitinated. USP17/UPS17L2-dependent deubiquitination positively regulates the receptor.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IFIH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for IFIH1 Gene

Domains for IFIH1 Gene

UniProtKB/Swiss-Prot:

IFIH1_HUMAN
Domain:
  • Contains 2 CARD domains.:
    • Q9BYX4
  • Contains 1 helicase ATP-binding domain.:
    • Q9BYX4
  • Contains 1 helicase C-terminal domain.:
    • Q9BYX4
Family:
  • Belongs to the helicase family. RLR subfamily.:
    • Q9BYX4
genes like me logo Genes that share domains with IFIH1: view

No data available for Gene Families for IFIH1 Gene

Function for IFIH1 Gene

Molecular function for IFIH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: By interferon (IFN) and TNF.

Enzyme Numbers (IUBMB) for IFIH1 Gene

Gene Ontology (GO) - Molecular Function for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0003725 double-stranded RNA binding TAS 17079289
GO:0003727 single-stranded RNA binding IDA 19656871
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with IFIH1: view
genes like me logo Genes that share phenotypes with IFIH1: view

Animal Models for IFIH1 Gene

MGI Knock Outs for IFIH1:

miRNA for IFIH1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for IFIH1 Gene

Localization for IFIH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFIH1 Gene

Cytoplasm. Nucleus. Note=May be found in the nucleus, during apoptosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFIH1 Gene COMPARTMENTS Subcellular localization image for IFIH1 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IFIH1: view

Pathways for IFIH1 Gene

genes like me logo Genes that share pathways with IFIH1: view

Gene Ontology (GO) - Biological Process for IFIH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009597 detection of virus TAS 17079289
GO:0009615 response to virus TAS 21616437
GO:0016032 viral process IEA --
GO:0016925 protein sumoylation IDA 21156324
GO:0032480 negative regulation of type I interferon production TAS --
genes like me logo Genes that share ontologies with IFIH1: view

Compounds for IFIH1 Gene

(2) Novoseek inferred chemical compound relationships for IFIH1 Gene

Compound -log(P) Hits PubMed IDs
polyinosinic-polycytidylic acid 65.2 4
retinoic acid 52.7 11
genes like me logo Genes that share compounds with IFIH1: view

Transcripts for IFIH1 Gene

Unigene Clusters for IFIH1 Gene

Interferon induced with helicase C domain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IFIH1 Gene

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:
SP6:
SP7:
SP8:
SP9:

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for IFIH1 Gene

GeneLoc Exon Structure for
IFIH1
ECgene alternative splicing isoforms for
IFIH1

Expression for IFIH1 Gene

mRNA expression in normal human tissues for IFIH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFIH1 Gene

SOURCE GeneReport for Unigene cluster for IFIH1 Gene Hs.163173

mRNA Expression by UniProt/SwissProt for IFIH1 Gene

Q9BYX4-IFIH1_HUMAN
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.
genes like me logo Genes that share expressions with IFIH1: view

Orthologs for IFIH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFIH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFIH1 36
  • 97.57 (n)
  • 96.75 (a)
IFIH1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFIH1 36
  • 87.46 (n)
  • 83.89 (a)
IFIH1 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFIH1 36
  • 86.99 (n)
  • 82.94 (a)
IFIH1 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ifih1 36
  • 81.18 (n)
  • 79.69 (a)
Ifih1 16
Ifih1 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFIH1 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFIH1 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifih1 36
  • 80.78 (n)
  • 79.61 (a)
chicken
(Gallus gallus)
Aves IFIH1 36
  • 68.22 (n)
  • 63.32 (a)
IFIH1 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFIH1 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifih1 36
  • 61.16 (n)
  • 56.31 (a)
zebrafish
(Danio rerio)
Actinopterygii ifih1 37
  • 48 (a)
OneToOne
LOC565759 36
  • 57.07 (n)
  • 52.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dcr-2 37
  • 7 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea drh-1 37
  • 21 (a)
ManyToMany
drh-3 37
  • 19 (a)
ManyToMany
Species with no ortholog for IFIH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFIH1 Gene

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

Paralogs for IFIH1 Gene

Paralogs for IFIH1 Gene

Selected SIMAP similar genes for IFIH1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for IFIH1 Gene

genes like me logo Genes that share paralogs with IFIH1: view

Variants for IFIH1 Gene

Sequence variations from dbSNP and Humsavar for IFIH1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs726323 -- 162,284,994(-) CCAGC(A/G)TCTGC intron-variant
rs888284 -- 162,277,978(+) ATTAA(A/T)GTTTA intron-variant
rs918161 -- 162,273,158(+) TATAG(G/T)AAGAA intron-variant
rs974551 -- 162,294,859(+) ATTTA(C/T)GGCTG intron-variant
rs1864430 -- 162,315,794(+) CAAAC(G/T)TAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFIH1 Gene

Variant ID Type Subtype PubMed ID
nsv834440 CNV Gain 17160897
dgv4353n71 CNV Loss 21882294
nsv875354 CNV Loss 21882294

Relevant External Links for IFIH1 Gene

HapMap Linkage Disequilibrium report
IFIH1
Human Gene Mutation Database (HGMD)
IFIH1

Disorders for IFIH1 Gene

UniProtKB/Swiss-Prot

IFIH1_HUMAN
  • 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).
  • Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:24686847, ECO:0000269 PubMed:24995871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for IFIH1 Gene

(7) Novoseek inferred disease relationships for IFIH1 Gene

Disease -log(P) Hits PubMed IDs
melanoma 71.1 46
virus infection 67.6 9
influenza 19.5 3
hepatitis c 18.2 1
inflammation 0 1

Relevant External Links for IFIH1

Genetic Association Database (GAD)
IFIH1
Human Genome Epidemiology (HuGE) Navigator
IFIH1
genes like me logo Genes that share disorders with IFIH1: view

Publications for IFIH1 Gene

  1. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. (PMID: 16699517) Smyth D.J. … Todd J.A. (Nat. Genet. 2006) 3 4 23 49
  2. mda-5: an interferon-inducible putative RNA helicase with double- stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties. (PMID: 11805321) Kang D.-C. … Fisher P.B. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  3. A novel cellular RNA helicase, RH116, differentially regulates cell growth, programmed cell death and human immunodeficiency virus type 1 replication. (PMID: 14645903) Cocude C. … Bahr G.M. (J. Gen. Virol. 2003) 3 4 23
  4. The V proteins of paramyxoviruses bind the IFN-inducible RNA helicase, mda-5, and inhibit its activation of the IFN-beta promoter. (PMID: 15563593) Andrejeva J. … Randall R.E. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  5. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. (PMID: 19264985) Nejentsev S. … Todd J.A. (Science 2009) 3 23 49

Products for IFIH1 Gene

  • Addgene plasmids for IFIH1

Sources for IFIH1 Gene

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