Ifih1 interferon induced with helicase C domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ifih1provided by MGI
Official Full Name: interferon induced with helicase C domain 1provided by MGI
Primary source: MGI:MGI:1918836
See related: Ensembl:ENSMUSG00000026896 AllianceGenome:MGI:1918836
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hlcd; MDA5; RLR-2; Helicard; 9130009C22Rik
Summary: Predicted to enable several functions, including ATP hydrolysis activity; RNA binding activity; and zinc ion binding activity. Involved in innate immune response and response to virus. Acts upstream of or within antiviral innate immune response; protein complex oligomerization; and type I interferon-mediated signaling pathway. Located in cytoplasm. Is expressed in brain. Used to study Aicardi-Goutieres syndrome and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome and primary immunodeficiency disease. Orthologous to human IFIH1 (interferon induced with helicase C domain 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 4.6), small intestine adult (RPKM 3.8) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.3; 2 35.85 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (62426137..62476599, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (62595618..62646255, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Title: The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
MDA5 Enhances Invasive Candida albicans Infection by Regulating Macrophage Apoptosis and Phagocytosis/Killing Functions.
Title: MDA5 Enhances Invasive Candida albicans Infection by Regulating Macrophage Apoptosis and Phagocytosis/Killing Functions.
ADAR1p150 prevents MDA5 and PKR activation via distinct mechanisms to avert fatal autoinflammation.
Title: ADAR1p150 prevents MDA5 and PKR activation via distinct mechanisms to avert fatal autoinflammation.
MDA5 RNA-sensing pathway activation by Mycobacterium tuberculosis promotes innate immune subversion and pathogen survival.
Title: MDA5 RNA-sensing pathway activation by Mycobacterium tuberculosis promotes innate immune subversion and pathogen survival.
Long noncoding RNA 1392 regulates MDA5 by interaction with ELAVL1 to inhibit coxsackievirus B5 infection.
Title: Long noncoding RNA 1392 regulates MDA5 by interaction with ELAVL1 to inhibit coxsackievirus B5 infection.
Theilovirus 3C Protease Cleaves the C-Terminal Domain of the Innate Immune RNA Sensor, Melanoma Differentiation-Associated Gene 5, and Impairs Double-Stranded RNA-Mediated IFN Response.
Title: Theilovirus 3C Protease Cleaves the C-Terminal Domain of the Innate Immune RNA Sensor, Melanoma Differentiation-Associated Gene 5, and Impairs Double-Stranded RNA-Mediated IFN Response.
A Study on MDA5 Signaling in Splenic B Cells from an Imiquimod-Induced Lupus Mouse Model with Proteomics.
Title: A Study on MDA5 Signaling in Splenic B Cells from an Imiquimod-Induced Lupus Mouse Model with Proteomics.
Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model.
Title: Attenuation of regulatory T cell function by type I IFN signaling in an MDA5 gain-of-function mutant mouse model.
ADAR1 RNA editing regulates endothelial cell functions via the MDA-5 RNA sensing signaling pathway.
Title: ADAR1 RNA editing regulates endothelial cell functions via the MDA-5 RNA sensing signaling pathway.
Hepatic Macrophages Express Melanoma Differentiation-Associated Gene 5 in Nonalcoholic Steatohepatitis.
Title: Hepatic Macrophages Express Melanoma Differentiation-Associated Gene 5 in Nonalcoholic Steatohepatitis.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (10) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU048745 (e-PCR)
- UniSTS:145195

NoName (e-PCR)
- UniSTS:224187

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA helicase activity	ISO Inferred from Sequence Orthology more info
enables RNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables pattern recognition receptor activity	IEA Inferred from Electronic Annotation more info
enables pattern recognition receptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info	PubMed
enables ribonucleoprotein complex binding	IEA Inferred from Electronic Annotation more info
enables ribonucleoprotein complex binding	ISO Inferred from Sequence Orthology more info
enables single-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in MDA-5 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in MDA-5 signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in MDA-5 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in antiviral innate immune response	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within antiviral innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to exogenous dsRNA	ISO Inferred from Sequence Orthology more info
involved_in cellular response to exogenous dsRNA	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	ISO Inferred from Sequence Orthology more info
involved_in defense response to virus	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of viral genome replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of viral genome replication	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interferon-alpha production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interferon-alpha production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interferon-beta production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interferon-beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of response to cytokine stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of response to cytokine stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	ISO Inferred from Sequence Orthology more info
involved_in protein sumoylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to virus	ISO Inferred from Sequence Orthology more info
involved_in response to virus	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: interferon-induced helicase C domain-containing protein 1

Names: RIG-I-like receptor 2; helicase with 2 CARD domains; interferon induced with helicase C domain protein 1; melanoma differentiation-associated protein 5

NP_001157949.1

EC 3.6.4.13

NP_082111.2

EC 3.6.4.13

XP_006500250.1

EC 3.6.4.13

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.

mRNA and Protein(s)

NM_001164477.1 → NP_001157949.1 interferon-induced helicase C domain-containing protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL929246

Consensus CDS

CCDS50594.1

UniProtKB/TrEMBL

D2CGM5

Related

ENSMUSP00000108078.4, ENSMUST00000112459.4

Conserved Domains (6) summary

COG1111
Location:258 → 824

MPH1; ERCC4-related helicase [Replication, recombination and repair]

cd15807
Location:851 → 966

MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor

cd12090
Location:500 → 645

MDA5_ID; Insert domain of MDA5

pfam00271
Location:659 → 774

Helicase_C; Helicase conserved C-terminal domain

pfam04851
Location:257 → 443

ResIII; Type III restriction enzyme, res subunit

cl14633
Location:8 → 99

DD; Death Domain Superfamily of protein-protein interaction domains
NM_027835.3 → NP_082111.2 interferon-induced helicase C domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_082111.2

Status: VALIDATED

Description

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

Source sequence(s)

AK168646, AL929246, AY075132

Consensus CDS

CCDS16068.1

UniProtKB/Swiss-Prot

A2AUY7, Q3U6S2, Q68EM4, Q8BYC9, Q8BZ01, Q8K5C7, Q8R144, Q8R5F7, Q8VE79, Q99KS4, Q9D2Z5

UniProtKB/TrEMBL

D2CGM4, D2CGM5

Related

ENSMUSP00000028259.6, ENSMUST00000028259.12

Conserved Domains (5) summary

cd15807
Location:900 → 1015

MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor

cd12090
Location:549 → 694

MDA5_ID; Insert domain of MDA5

cd18802
Location:696 → 834

SF2_C_dicer; C-terminal helicase domain of the endoribonuclease Dicer

cl14633
Location:8 → 99

DD; Death Domain Superfamily of protein-protein interaction domains

cl28899
Location:307 → 522

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

62426137..62476599 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500187.5 → XP_006500250.1 interferon-induced helicase C domain-containing protein 1 isoform X1

Conserved Domains (4) summary

cd15807
Location:621 → 736

MDA5_C; C-terminal domain of Melanoma differentiation-associated protein 5, a cytoplasmic viral RNA receptor

cd12090
Location:270 → 415

MDA5_ID; Insert domain of MDA5

cd18802
Location:417 → 555

SF2_C_dicer; C-terminal helicase domain of the endoribonuclease Dicer

cl28899
Location:28 → 243

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily