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IFIH1 interferon induced with helicase C domain 1 [ Homo sapiens (human) ]

Gene ID: 64135, updated on 3-Jan-2019

Summary

Official Symbol
IFIH1provided by HGNC
Official Full Name
interferon induced with helicase C domain 1provided by HGNC
Primary source
HGNC:HGNC:18873
See related
Ensembl:ENSG00000115267 MIM:606951
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGS7; Hlcd; MDA5; MDA-5; RLR-2; IDDM19; SGMRT1
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 10.9), appendix (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See IFIH1 in Genome Data Viewer
Location:
2q24.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (162267079..162318708, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (163123589..163175218, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929532 Neighboring gene uncharacterized LOC105373724 Neighboring gene fibroblast activation protein alpha Neighboring gene grancalcin Neighboring gene potassium voltage-gated channel subfamily H member 7 Neighboring gene RNA, 5S ribosomal pseudogene 109

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aicardi-Goutieres syndrome 7
MedGen: C3888244 OMIM: 615846 GeneReviews: Aicardi-Goutieres Syndrome
Compare labs
Singleton-Merten syndrome 1
MedGen: C4225427 OMIM: 182250 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
NHGRI GWA Catalog
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
NHGRI GWA Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr upregulates the gene expression of IFIH1 in human monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Hepatitis B, organism-specific biosystem (from KEGG)
    Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Influenza A, organism-specific biosystem (from KEGG)
    Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
  • Influenza A, conserved biosystem (from KEGG)
    Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Measles, organism-specific biosystem (from KEGG)
    Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Measles, conserved biosystem (from KEGG)
    Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystem (from REACTOME)
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystemFas-AssociatedDeathDomain (FADD) and receptor interacting protein 1 (RIP1) are death domain containing molecules that interact with the C-terminal portion of IPS-1 and induce NF-kB through interactio...
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • Ovarian tumor domain proteases, organism-specific biosystem (from REACTOME)
    Ovarian tumor domain proteases, organism-specific biosystemHumans have 16 Overian tumour domain (OTU) family DUBs that can be evolutionally divided into three classes, the OTUs, the Otubains (OTUBs), and the A20-like OTUs (Komander et al. 2009). OTU family ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RIG-I-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
    RIG-I-like Receptor Signaling, organism-specific biosystemViral pathogen RNA are recognized by host helicases called RIG-I-like receptors (RLRs) that include DDX58 (RIG-I), DHX58 (LGP2), IFIH1 (MDA5), SNW1, and DDX17. These RLR proteins then go on to initia...
  • RIG-I-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I-like receptor signaling pathway, conserved biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • TRAF3-dependent IRF activation pathway, organism-specific biosystem (from REACTOME)
    TRAF3-dependent IRF activation pathway, organism-specific biosystemIPS-1/MAVS/Cardif/VISA with its TRAF-interaction motif (TIM) directly interacts with TRAF3 and recruits TRAF3 to the RIG-I/MDA5 signaling complex. TRAF3 acts as a scaffold for the assembly of a signa...
  • TRAF6 mediated IRF7 activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated IRF7 activation, organism-specific biosystemTRAF6 is crucial for both RIG-I- and MDA5-mediated antiviral responses. The absence of TRAF6 resulted in enhanced viral replication and a significant reduction in the production of type I IFNs and IL...
  • TRAF6 mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated NF-kB activation, organism-specific biosystemThe TRAF6/TAK1 signal activates a canonical IKK complex, resulting in the activation of NF-kB as well as MAPK cascades leading to the activation of AP-1. Although TRAF6/TAK1 has been implicated in To...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133047

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding TAS
Traceable Author Statement
more info
PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
MDA-5 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to exogenous dsRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic pattern recognition receptor signaling pathway in response to virus TAS
Traceable Author Statement
more info
PubMed 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
detection of virus TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of type I interferon production TAS
Traceable Author Statement
more info
 
positive regulation of interferon-alpha production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-alpha production TAS
Traceable Author Statement
more info
PubMed 
positive regulation of interferon-alpha secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-beta production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-beta production TAS
Traceable Author Statement
more info
PubMed 
positive regulation of interferon-beta secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-6 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tumor necrosis factor secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of type III interferon production TAS
Traceable Author Statement
more info
PubMed 
response to virus TAS
Traceable Author Statement
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
interferon-induced helicase C domain-containing protein 1
Names
CADM-140 autoantigen
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide
RIG-I-like receptor 2
RNA helicase-DEAD box protein 116
clinically amyopathic dermatomyositis autoantigen 140 kDa
helicard
helicase with 2 CARD domains
melanoma differentiation-associated gene 5
melanoma differentiation-associated protein 5
murabutide down-regulated protein
NP_071451.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011495.1 RefSeqGene

    Range
    4846..56456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1235

mRNA and Protein(s)

  1. NM_022168.4NP_071451.2  interferon-induced helicase C domain-containing protein 1

    See identical proteins and their annotated locations for NP_071451.2

    Status: REVIEWED

    Source sequence(s)
    AC007750, AF095844, BC046208, BC111750
    Consensus CDS
    CCDS2217.1
    UniProtKB/Swiss-Prot
    Q9BYX4
    Related
    ENSP00000263642.2, ENST00000263642.2
    Conserved Domains (7) summary
    COG1111
    Location:306873
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
    cd08818
    Location:899
    CARD_MDA5_r1; Caspase activation and recruitment domain found in MDA5, first repeat
    cd08819
    Location:111201
    CARD_MDA5_r2; Caspase activation and recruitment domain found in MDA5, second repeat
    cd15807
    Location:9001015
    MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor
    cd12090
    Location:548694
    MDA5_ID; Insert domain of MDA5
    pfam00271
    Location:698823
    Helicase_C; Helicase conserved C-terminal domain
    pfam04851
    Location:305491
    ResIII; Type III restriction enzyme, res subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    162267079..162318708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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