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IRF1 interferon regulatory factor 1 [ Homo sapiens (human) ]

Gene ID: 3659, updated on 13-Apr-2024

Summary

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Official Symbol
IRF1provided by HGNC
Official Full Name
interferon regulatory factor 1provided by HGNC
Primary source
HGNC:HGNC:6116
See related
Ensembl:ENSG00000125347 MIM:147575; AllianceGenome:HGNC:6116
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
MAR; IRF-1; IMD117
Summary
The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]
Expression
Broad expression in bone marrow (RPKM 34.6), appendix (RPKM 32.5) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See IRF1 in Genome Data Viewer
Location:
5q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132481609..132490773, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133001395..133010551, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131817301..131826465, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MIR3936 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131712295-131712796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23070 Neighboring gene solute carrier family 22 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16319 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131751322-131751510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131763030-131763616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131763617-131764201 Neighboring gene long intergenic non-protein coding RNA 2863 Neighboring gene colitis associated IRF1 antisense regulator of intestinal homeostasis Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:131780806-131781485 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:131786393-131787031 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131791634-131791826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131792105-131792775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131792776-131793445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131799668-131800632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131800633-131801597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131801783-131802284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23080 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:131821689-131822888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131825338-131825985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131827280-131827925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131832117-131833091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:131892292-131892952 Neighboring gene interleukin 5 Neighboring gene RAD50 double strand break repair protein Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131954089-131954264 Neighboring gene Th2 cytokine locus control region Neighboring gene T helper type 2 locus control region associated RNA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Immune evasion strategy involving propionylation by the KSHV interferon regulatory factor 1 (vIRF1). Shi J, et al. PLoS Pathog, 2023 Apr. PMID 37023208, Free PMC Article
  2. IRF1 expression might be a biomarker of CD8+ T cell infiltration in cutaneous melanoma. Zhou S, et al. Expert Rev Clin Immunol, 2022 Dec. PMID 36300336
  3. Host-Level Susceptibility and IRF1 Expression Influence the Ability of IFN-γ to Inhibit KSHV Infection in B Lymphocytes. Alomari N, et al. Viruses, 2022 Oct 19. PMID 36298850, Free PMC Article
  4. SARS-CoV-2 infection impairs the insulin/IGF signaling pathway in the lung, liver, adipose tissue, and pancreatic cells via IRF1. Shin J, et al. Metabolism, 2022 Aug. PMID 35688210, Free PMC Article
  5. Interferon regulatory factor 1 (IRF1) controls the metabolic programmes of low-grade pancreatic cancer cells. Alfarano G, et al. Gut, 2023 Jan. PMID 35568393

See all (381) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IRF1 Mediates Growth Arrest and the Induction of a Secretory Phenotype in Alveolar Epithelial Cells in Response to Inflammatory Cytokines IFNgamma/TNFalpha.
    Title: IRF1 Mediates Growth Arrest and the Induction of a Secretory Phenotype in Alveolar Epithelial Cells in Response to Inflammatory Cytokines IFNγ/TNFα.
  2. Roles of Interferon Regulatory Factor 1 in Tumor Progression and Regression: Two Sides of a Coin.
    Title: Roles of Interferon Regulatory Factor 1 in Tumor Progression and Regression: Two Sides of a Coin.
  3. The RNA m[6]A reader IGF2BP3 regulates NFAT1/IRF1 axis-mediated anti-tumor activity in gastric cancer.
    Title: The RNA m(6)A reader IGF2BP3 regulates NFAT1/IRF1 axis-mediated anti-tumor activity in gastric cancer.
  4. TNF and IFNgamma-induced cell death requires IRF1 and ELAVL1 to promote CASP8 expression.
    Title: TNF and IFNγ-induced cell death requires IRF1 and ELAVL1 to promote CASP8 expression.
  5. IRF1 regulates self-renewal and stress responsiveness to support hematopoietic stem cell maintenance.
    Title: IRF1 regulates self-renewal and stress responsiveness to support hematopoietic stem cell maintenance.
  6. SPOP targets the immune transcription factor IRF1 for proteasomal degradation.
    Title: SPOP targets the immune transcription factor IRF1 for proteasomal degradation.
  7. IRF1 suppresses colon cancer proliferation by reducing SPI1-mediated transcriptional activation of GPX4 and promoting ferroptosis.
    Title: IRF1 suppresses colon cancer proliferation by reducing SPI1-mediated transcriptional activation of GPX4 and promoting ferroptosis.
  8. A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
    Title: A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
  9. IRF1 promotes the chondrogenesis of human adipose-derived stem cells through regulating HILPDA.
    Title: IRF1 promotes the chondrogenesis of human adipose-derived stem cells through regulating HILPDA.
  10. CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling.
    Title: CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling.
Submit: New GeneRIF Correction See all GeneRIFs (286)

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

Associated conditions

Description Tests
Immunodeficiency 117
MedGen: CN375951 OMIM: 620668 GeneReviews: Not available
not available
Lung cancer
MedGen: C0242379 OMIM: 211980 GeneReviews: Not available
Compare labs
Stomach cancer
MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
EBI GWAS Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
EBI GWAS Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 replication requires IRF1 expression as siRNA knockdown of IRF1 resulted in >90% inhibition of HIV replication in CD4+ T cells and monocytes PubMed
HIV/tuberculosis coinfection upregulates IRF1 expression in pleural fluid mononuclear cells (PFMC) isolated from antiretroviral-naive coinfected patients (relative to patients infected with only tuberculosis) PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-induced signal transducer and activator of transcription 1 (STAT1) activation results in increased expression of interferon regulatory factor-1 (IRF-1) in recombinant Nef-treated human monocyte-derived macrophages (MDMs) PubMed
Tat tat HIV-1 Tat represses transcription of the LMP2 gene by competing with STAT1 (signal transducer and activator of transcription 1) for binding to IRF-1 (interferon-regulatory factor-1) at the LMP2 promoter PubMed
Vif vif HIV-1 Vif downregulates the expression of interferon regulatory factor 1 (IRF1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in CD8-positive, alpha-beta T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to interferon-beta IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in immune system process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of regulatory T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
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-12 production IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of type I interferon production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of CD8-positive, alpha-beta T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of MyD88-dependent toll-like receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of adaptive immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of innate immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in type II interferon-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IC
Inferred by Curator
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
interferon regulatory factor 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_011450.1 RefSeqGene

    Range
    5001..14165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354924.1 → NP_001341853.1  interferon regulatory factor 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC116366, KJ200634
    Consensus CDS
    CCDS93778.1
    UniProtKB/TrEMBL
    X5D3F6
    Related
    ENSP00000505720.1, ENST00000680903.1
    Conserved Domains (1) summary
    pfam00605
    Location:7 → 112
    IRF; Interferon regulatory factor transcription factor

  2. NM_001354925.1 → NP_001341854.1  interferon regulatory factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC116366, CT004274
    Consensus CDS
    CCDS93779.1
    UniProtKB/TrEMBL
    A0A7P0TAL6, Q5FBX3
    Related
    ENSP00000506148.1, ENST00000680139.1
    Conserved Domains (1) summary
    pfam00605
    Location:7 → 112
    IRF; Interferon regulatory factor transcription factor

  3. NM_002198.3 → NP_002189.1  interferon regulatory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_002189.1

    Status: REVIEWED

    Source sequence(s)
    AA402319, AC116366, AK314025, BC009483
    Consensus CDS
    CCDS4155.1
    UniProtKB/Swiss-Prot
    P10914, Q96GG7
    UniProtKB/TrEMBL
    Q6FHN8, X5CHT4
    Related
    ENSP00000245414.4, ENST00000245414.9
    Conserved Domains (1) summary
    pfam00605
    Location:7 → 112
    IRF; Interferon regulatory factor transcription factor

RNA

  1. NR_149068.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116366, KC209827

  2. NR_149069.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116366, DA583594
    Related
    ENST00000493208.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    132481609..132490773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417154.1 → XP_047273110.1  interferon regulatory factor 1 isoform X3

  2. XM_011543379.3 → XP_011541681.1  interferon regulatory factor 1 isoform X2

    Conserved Domains (1) summary
    cl00096
    Location:1 → 28
    IRF; Interferon Regulatory Factor (IRF); also known as tryptophan pentad repeat. The family of IRF transcription factors is important in the regulation of interferons in response to infection by virus and in the regulation of interferon-inducible genes. The ...

  3. XM_047417153.1 → XP_047273109.1  interferon regulatory factor 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    133001395..133010551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352526.1 → XP_054208501.1  interferon regulatory factor 1 isoform X3

  2. XM_054352525.1 → XP_054208500.1  interferon regulatory factor 1 isoform X2

  3. XM_054352524.1 → XP_054208499.1  interferon regulatory factor 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10914.2 GenPept UniProtKB/Swiss-Prot:P10914

Gene LinkOut

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