Human Gene MAVS (uc002wjv.3)
  Description: Homo sapiens mitochondrial antiviral signaling protein (MAVS), transcript variant 2, non-coding RNA.
RefSeq Summary (NR_037921): This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020].
Transcript (Including UTRs)
   Position: hg19 chr20:3,827,446-3,838,615 Size: 11,170 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr20:3,835,272-3,838,581 Size: 3,310 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:3,827,446-3,838,615)mRNA (may differ from genome)Protein (138 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsH-INVHGNC
LynxMalacardsMGIPubMedReactomeUniProtKB
Wikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAVS
CDC HuGE Published Literature: MAVS
Positive Disease Associations: Asthma
Related Studies:
  1. Asthma
    Xingnan Li et al. The Journal of allergy and clinical immunology 2010, Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions., The Journal of allergy and clinical immunology. [PubMed 20159242]
    This GWAS confirmed the important role of T(H)2 cytokine and antigen presentation genes in asthma at a genome-wide level and the importance of additional investigation of these 2 regions to delineate their structural complexity and biologic function in the development of asthma.

-  MalaCards Disease Associations
  MalaCards Gene Search: MAVS
Diseases sorted by gene-association score: chikungunya (12), retinitis pigmentosa-40 (11), viral infectious disease (6), hepatitis (6), aicardi-goutieres syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.05 RPKM in Cells - Cultured fibroblasts
Total median expression: 342.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.80172-0.423 Picture PostScript Text
3' UTR -9.7034-0.285 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF16739 - Caspase recruitment domain

ModBase Predicted Comparative 3D Structure on Q7Z434-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK296897 - Homo sapiens cDNA FLJ58074 complete cds, highly similar to Mitochondrial antiviral signaling protein.
AB097003 - Homo sapiens mRNA for putative NFkB activating protein, complete cds, clone: 031N.
AK123956 - Homo sapiens cDNA FLJ41962 fis, clone PUAEN2005588.
AK291785 - Homo sapiens cDNA FLJ76894 complete cds.
BX649084 - Homo sapiens mRNA; cDNA DKFZp779L0861 (from clone DKFZp779L0861).
AK023799 - Homo sapiens cDNA FLJ13737 fis, clone PLACE3000157.
AX775775 - Sequence 45 from Patent WO03048202.
JD191328 - Sequence 172352 from Patent EP1572962.
JD408544 - Sequence 389568 from Patent EP1572962.
BC044952 - Homo sapiens virus-induced signaling adapter, mRNA (cDNA clone MGC:50830 IMAGE:5751684), complete cds.
AK130992 - Homo sapiens cDNA FLJ27482 fis, clone PCD04339.
AB232371 - Homo sapiens Ips-1 mRNA, complete cds.
AB033097 - Homo sapiens KIAA1271 mRNA for KIAA1271 protein.
JD147806 - Sequence 128830 from Patent EP1572962.
CU692246 - Synthetic construct Homo sapiens gateway clone IMAGE:100021498 5' read VISA mRNA.
AB463122 - Synthetic construct DNA, clone: pF1KA1271, Homo sapiens MAVS gene for Mitochondrial antiviral-signaling protein, without stop codon, in Flexi system.
EU832500 - Synthetic construct Homo sapiens clone HAIB:100067529; DKFZo008F0729 virus-induced signaling adapter protein (VISA) gene, encodes complete protein.
EU832581 - Synthetic construct Homo sapiens clone HAIB:100067610; DKFZo004F0730 virus-induced signaling adapter protein (VISA) gene, encodes complete protein.
DQ167126 - Homo sapiens virus-induced signaling adapter (VISA) mRNA, complete cds.
DQ174270 - Homo sapiens mitochondrial anti-viral signaling protein (MAVS) mRNA, complete cds; nuclear gene for mitochondrial product.
DQ181928 - Homo sapiens CARDIF mRNA, complete cds.
EF467323 - Homo sapiens virus-induced signaling adaptor variant 1a (VISA) mRNA, complete cds, alternatively spliced.
EF467324 - Homo sapiens virus-induced signaling adapter variant 1b (VISA) mRNA, complete cds, alternatively spliced.
KC415005 - Homo sapiens mitochondrial antiviral signaling protein (MAVS) mRNA, complete cds; nuclear gene for mitochondrial product.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04622 - RIG-I-like receptor signaling pathway
hsa04623 - Cytosolic DNA-sensing pathway

Reactome (by CSHL, EBI, and GO)

Protein Q7Z434 (Reactome details) participates in the following event(s):

R-HSA-168909 viral dsRNA:IFIH1, viral dsRNA:K63polyUb-DDX58 bind MAVS
R-HSA-936564 NLRX1 inhibits MAVS-DDX58 interaction.
R-HSA-168934 MAVS interacts with RIPK1 and FADD
R-HSA-918227 Recruitment of TRAF3 to MAVS
R-HSA-918230 Recruitment of TRAF6/TRAF2 to IPS-1
R-HSA-990528 Interaction of PCBP2 with MAVS
R-HSA-936378 Inhibition of DDX58/IFIH1 signaling by ATG5:ATG12:MAVS
R-HSA-918225 TBK1/IKK epsilon complex interacts with MAVS bound TRAF3
R-HSA-936381 OTUD5 deubiquitinates TRAF3
R-HSA-933526 Recruitment of caspase-8 and -10 to FADD complex
R-HSA-990526 Recruitment of AIP4 and K48 ubiquitination of MAVS/IPS-1
R-HSA-933528 Interaction of MEKK1 with TRAF6
R-HSA-933537 Recruitment of TANK to TRAF6
R-HSA-933539 Recruitment of IKK complex
R-HSA-918232 Recruitment of IRF3,IRF7
R-HSA-918229 Phosphorylation and release of IRF3/IRF7
R-HSA-933523 Dimerzation of procaspase-8, procaspase-10
R-HSA-933527 Recruitment of TBK1/IKK epsilon complex to TANK:TRAF6
R-HSA-933532 Processing of caspases
R-HSA-933538 Recruitment of IRF7 to TRAF6
R-HSA-933525 Phosphorylation and release of IRF7
R-HSA-933530 Activation of IKK by MEKK1
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-918233 TRAF3-dependent IRF activation pathway
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-168249 Innate Immune System
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-168256 Immune System
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AK130992, IPS1, KIAA1271, Q7Z434-2, VISA
UCSC ID: uc002wjv.3
RefSeq Accession: NR_037921
Protein: Q7Z434-2, splice isoform of Q7Z434

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK130992.1
exon count: 3CDS single in 3' UTR: no RNA size: 544
ORF size: 417CDS single in intron: no Alignment % ID: 99.82
txCdsPredict score: 864.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 159# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.