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IFIH1 (interferon induced with helicase C domain 1)

Identity

Alias_namesinterferon induced with helicase C domain 1
interferon induced, with helicase C domain 1
Alias_symbol (synonym)MDA-5
Hlcd
MDA5
IDDM19
Other aliasAGS7
RLR-2
SGMRT1
HGNC (Hugo) IFIH1
LocusID (NCBI) 64135
Atlas_Id 41325
Location 2q24.2  [Link to chromosome band 2q24]
Location_base_pair Starts at 162267079 and ends at 162318708 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FAP (2q24.2) / IFIH1 (2q24.2)GRB14 (2q24.3) / IFIH1 (2q24.2)IFIH1 (2q24.2) / IFIH1 (2q24.2)
PDLIM5 (4q22.3) / IFIH1 (2q24.2)SI (3q26.1) / IFIH1 (2q24.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)IFIH1   18873
Cards
Entrez_Gene (NCBI)IFIH1  64135  interferon induced with helicase C domain 1
AliasesAGS7; Hlcd; IDDM19; MDA-5; 
MDA5; RLR-2; SGMRT1
GeneCards (Weizmann)IFIH1
Ensembl hg19 (Hinxton)ENSG00000115267 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115267 [Gene_View]  ENSG00000115267 [Sequence]  chr2:162267079-162318708 [Contig_View]  IFIH1 [Vega]
ICGC DataPortalENSG00000115267
TCGA cBioPortalIFIH1
AceView (NCBI)IFIH1
Genatlas (Paris)IFIH1
WikiGenes64135
SOURCE (Princeton)IFIH1
Genetics Home Reference (NIH)IFIH1
Genomic and cartography
GoldenPath hg38 (UCSC)IFIH1  -     chr2:162267079-162318708 -  2q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IFIH1  -     2q24.2   [Description]    (hg19-Feb_2009)
EnsemblIFIH1 - 2q24.2 [CytoView hg19]  IFIH1 - 2q24.2 [CytoView hg38]
Mapping of homologs : NCBIIFIH1 [Mapview hg19]  IFIH1 [Mapview hg38]
OMIM182250   606951   615846   
Gene and transcription
Genbank (Entrez)AF095844 AK056293 AK292941 AK314611 AY017378
RefSeq transcript (Entrez)NM_022168
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IFIH1
Cluster EST : UnigeneHs.163173 [ NCBI ]
CGAP (NCI)Hs.163173
Alternative Splicing GalleryENSG00000115267
Gene ExpressionIFIH1 [ NCBI-GEO ]   IFIH1 [ EBI - ARRAY_EXPRESS ]   IFIH1 [ SEEK ]   IFIH1 [ MEM ]
Gene Expression Viewer (FireBrowse)IFIH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64135
GTEX Portal (Tissue expression)IFIH1
Human Protein AtlasENSG00000115267-IFIH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYX4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYX4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYX4
Splice isoforms : SwissVarQ9BYX4
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
PhosPhoSitePlusQ9BYX4
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    RLR_CTR (PS51789)   
Domains : Interpro (EBI)CARD_dom    Helicase/UvrB_N    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RLR_C_sf    RLR_CTR   
Domain families : Pfam (Sanger)CARD_2 (PF16739)    Helicase_C (PF00271)    ResIII (PF04851)    RIG-I_C-RD (PF11648)   
Domain families : Pfam (NCBI)pfam16739    pfam00271    pfam04851    pfam11648   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)IFIH1
DMDM Disease mutations64135
Blocks (Seattle)IFIH1
PDB (SRS)2RQB    3B6E    3GA3    4GL2   
PDB (PDBSum)2RQB    3B6E    3GA3    4GL2   
PDB (IMB)2RQB    3B6E    3GA3    4GL2   
PDB (RSDB)2RQB    3B6E    3GA3    4GL2   
Structural Biology KnowledgeBase2RQB    3B6E    3GA3    4GL2   
SCOP (Structural Classification of Proteins)2RQB    3B6E    3GA3    4GL2   
CATH (Classification of proteins structures)2RQB    3B6E    3GA3    4GL2   
SuperfamilyQ9BYX4
Human Protein Atlas [tissue]ENSG00000115267-IFIH1 [tissue]
Peptide AtlasQ9BYX4
HPRD09507
IPIIPI00005577   IPI00556546   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYX4
IntAct (EBI)Q9BYX4
FunCoupENSG00000115267
BioGRIDIFIH1
STRING (EMBL)IFIH1
ZODIACIFIH1
Ontologies - Pathways
QuickGOQ9BYX4
Ontology : AmiGODNA binding  double-stranded RNA binding  double-stranded RNA binding  single-stranded RNA binding  helicase activity  protein binding  ATP binding  nucleus  cytosol  zinc ion binding  detection of virus  response to virus  viral process  protein deubiquitination  protein sumoylation  negative regulation of type I interferon production  positive regulation of interferon-alpha production  positive regulation of interferon-alpha production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  regulation of type III interferon production  positive regulation of interferon-beta secretion  cytoplasmic pattern recognition receptor signaling pathway in response to virus  MDA-5 signaling pathway  identical protein binding  ribonucleoprotein complex binding  innate immune response  defense response to virus  positive regulation of response to cytokine stimulus  cellular response to exogenous dsRNA  positive regulation of interferon-alpha secretion  positive regulation of tumor necrosis factor secretion  positive regulation of interleukin-6 secretion  
Ontology : EGO-EBIDNA binding  double-stranded RNA binding  double-stranded RNA binding  single-stranded RNA binding  helicase activity  protein binding  ATP binding  nucleus  cytosol  zinc ion binding  detection of virus  response to virus  viral process  protein deubiquitination  protein sumoylation  negative regulation of type I interferon production  positive regulation of interferon-alpha production  positive regulation of interferon-alpha production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  regulation of type III interferon production  positive regulation of interferon-beta secretion  cytoplasmic pattern recognition receptor signaling pathway in response to virus  MDA-5 signaling pathway  identical protein binding  ribonucleoprotein complex binding  innate immune response  defense response to virus  positive regulation of response to cytokine stimulus  cellular response to exogenous dsRNA  positive regulation of interferon-alpha secretion  positive regulation of tumor necrosis factor secretion  positive regulation of interleukin-6 secretion  
Pathways : KEGGRIG-I-like receptor signaling pathway    Hepatitis B    Measles    Influenza A    Herpes simplex infection   
NDEx NetworkIFIH1
Atlas of Cancer Signalling NetworkIFIH1
Wikipedia pathwaysIFIH1
Orthology - Evolution
OrthoDB64135
GeneTree (enSembl)ENSG00000115267
Phylogenetic Trees/Animal Genes : TreeFamIFIH1
HOVERGENQ9BYX4
HOGENOMQ9BYX4
Homologs : HomoloGeneIFIH1
Homology/Alignments : Family Browser (UCSC)IFIH1
Gene fusions - Rearrangements
Fusion : QuiverIFIH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFIH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFIH1
dbVarIFIH1
ClinVarIFIH1
1000_GenomesIFIH1 
Exome Variant ServerIFIH1
ExAC (Exome Aggregation Consortium)ENSG00000115267
GNOMAD BrowserENSG00000115267
Varsome BrowserIFIH1
Genetic variants : HAPMAP64135
Genomic Variants (DGV)IFIH1 [DGVbeta]
DECIPHERIFIH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIFIH1 
Mutations
ICGC Data PortalIFIH1 
TCGA Data PortalIFIH1 
Broad Tumor PortalIFIH1
OASIS PortalIFIH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFIH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFIH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IFIH1
DgiDB (Drug Gene Interaction Database)IFIH1
DoCM (Curated mutations)IFIH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFIH1 (select a term)
intoGenIFIH1
Cancer3DIFIH1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182250    606951    615846   
Orphanet1309    11649   
DisGeNETIFIH1
MedgenIFIH1
Genetic Testing Registry IFIH1
NextProtQ9BYX4 [Medical]
TSGene64135
GENETestsIFIH1
Target ValidationIFIH1
Huge Navigator IFIH1 [HugePedia]
snp3D : Map Gene to Disease64135
BioCentury BCIQIFIH1
ClinGenIFIH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64135
Chemical/Pharm GKB GenePA134889215
Clinical trialIFIH1
Miscellaneous
canSAR (ICR)IFIH1 (select the gene name)
Probes
Litterature
PubMed218 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFIH1
EVEXIFIH1
GoPubMedIFIH1
iHOPIFIH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:28:25 CEST 2018

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