MAVS mitochondrial antiviral signaling protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAVSprovided by HGNC
Official Full Name: mitochondrial antiviral signaling proteinprovided by HGNC
Primary source: HGNC:HGNC:29233
See related: Ensembl:ENSG00000088888 MIM:609676; AllianceGenome:HGNC:29233
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: IPS1; VISA; IPS-1; CARDIF
Summary: 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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Ubiquitous expression in colon (RPKM 9.9), fat (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3846834..3876118)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3877778..3907055)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3827481..3856765)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Interaction between SARS-CoV-2 Nucleocapsid Protein and UBC9 Inhibits MAVS Ubiquitination by Enhancing Its SUMOylation.
Title: The Interaction between SARS-CoV-2 Nucleocapsid Protein and UBC9 Inhibits MAVS Ubiquitination by Enhancing Its SUMOylation.
MAVS signaling is required for preventing persistent chikungunya heart infection and chronic vascular tissue inflammation.
Title: MAVS signaling is required for preventing persistent chikungunya heart infection and chronic vascular tissue inflammation.
Dengue Virus 2 NS2B Targets MAVS and IKKepsilon to Evade the Antiviral Innate Immune Response.
Title: Dengue Virus 2 NS2B Targets MAVS and IKKε to Evade the Antiviral Innate Immune Response.
CircPVT1 promotes ER-positive breast tumorigenesis and drug resistance by targeting ESR1 and MAVS.
Title: CircPVT1 promotes ER-positive breast tumorigenesis and drug resistance by targeting ESR1 and MAVS.
Retinoic acid-inducible gene 1 (RIG-1) and IFN-beta promoter stimulator-1 (IPS-1) significantly down-regulated in the severe coronavirus disease 2019 (COVID-19).
Title: Retinoic acid-inducible gene 1 (RIG-1) and IFN-β promoter stimulator-1 (IPS-1) significantly down-regulated in the severe coronavirus disease 2019 (COVID-19).
The effects of NLRP3 and MAVS gene polymorphisms on the risk of asthma: A case-control study.
Title: The effects of NLRP3 and MAVS gene polymorphisms on the risk of asthma: A case-control study.
RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS.
Title: RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS.
The protein arginine methyltransferase PRMT9 attenuates MAVS activation through arginine methylation.
Title: The protein arginine methyltransferase PRMT9 attenuates MAVS activation through arginine methylation.
Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation.
Title: Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation.
A conventional immune regulator mitochondrial antiviral signaling protein blocks hepatic steatosis by maintaining mitochondrial homeostasis.
Title: A conventional immune regulator mitochondrial antiviral signaling protein blocks hepatic steatosis by maintaining mitochondrial homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (190)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef (NL4-3) degrades (leads to degradation of) MAVS	PubMed
	nef	HIV-1 Nef (NL4-3) blocks MAVS (IPS-1) induced antiviral signalling (IFN release) of host cell (CEM)	PubMed
Vpu	vpu	HIV-1 Vpu (NL4-3) degrades (leads to degradation of) MAVS	PubMed
	vpu	HIV-1 Vpu (NL4-3) blocks MAVS (IPS-1) induced antiviral signalling (IFN release) of host cell (CEM)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

WI-17681 (e-PCR)
- UniSTS:45581

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:313261 (e-PCR)
- UniSTS:156445

GDB:313317 (e-PCR)
- UniSTS:156447

D20S517E (e-PCR)
- UniSTS:150313

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

RH80030 (e-PCR)
- UniSTS:87680

GDB:315881 (e-PCR)
- UniSTS:156545

D11S3114 (e-PCR)
- UniSTS:152207

RH80438 (e-PCR)
- UniSTS:93078

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

RH80031 (e-PCR)
- UniSTS:91103

D3S1673 (e-PCR)
- UniSTS:148450

D15S1390 (e-PCR)
- UniSTS:474340

D11S3316 (e-PCR)
- UniSTS:152558

Clone Names

MGC3260, FLJ27482, FLJ31698, FLJ35386, FLJ38051, FLJ41962, KIAA1271, DKFZp547C224, DKFZp666M015

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RIG-I binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antiviral innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_positive_effect innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of IP-10 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of chemokine (C-C motif) ligand 5 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interferon-alpha production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-alpha production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interferon-beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myeloid dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of peroxisome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in type I interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: mitochondrial antiviral-signaling protein

Names: CARD adapter inducing interferon beta; CARD adaptor inducing IFN-beta; IFN-B promoter stimulator 1; interferon beta promoter stimulator protein 1; putative NF-kappa-B-activating protein 031N; virus-induced signaling adaptor; virus-induced-signaling adapter

NCBI Reference Sequences (RefSeq)

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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

NG_030028.1 RefSeqGene

Range

5036..34320

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206491.2 → NP_001193420.1 mitochondrial antiviral-signaling protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL109804, AL353194

Consensus CDS

CCDS56176.1

UniProtKB/Swiss-Prot

Q7Z434

Related

ENSP00000413749.2, ENST00000416600.6

Conserved Domains (1) summary

PRK07003
Location:92 → 265

PRK07003; DNA polymerase III subunit gamma/tau
NM_001385663.1 → NP_001372592.1 mitochondrial antiviral-signaling protein isoform 2

Status: REVIEWED

Source sequence(s)

AL109804, AL353194

Consensus CDS

CCDS56176.1

Conserved Domains (1) summary

PRK07003
Location:92 → 265

PRK07003; DNA polymerase III subunit gamma/tau
NM_020746.5 → NP_065797.2 mitochondrial antiviral-signaling protein isoform 1

See identical proteins and their annotated locations for NP_065797.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL353194, BC044952, DB219666, DQ167126

Consensus CDS

CCDS33437.1

UniProtKB/Swiss-Prot

A8K6X0, B2BD33, B2BD34, F5H6C8, M1P2Z0, Q2HWT5, Q3I0Y2, Q5T7I6, Q7Z434, Q86VY7, Q9H1H3, Q9H4Y1, Q9H8D3, Q9ULE9

Related

ENSP00000401980.2, ENST00000428216.4

Conserved Domains (1) summary

cd08811
Location:3 → 93

CARD_IPS1; Caspase activation and recruitment domain (CARD) found in IPS-1

RNA

NR_037921.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL353194, DB219666, EF467324