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

Summary

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

Location:: 5q31.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (132481609..132490773, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (133001395..133010551, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (131817301..131826465, complement)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interferon regulatory factor 1 mediated inhibition of Treg cell differentiation induces maternal-fetal immune imbalance in preeclampsia.
Title: Interferon regulatory factor 1 mediated inhibition of Treg cell differentiation induces maternal-fetal immune imbalance in preeclampsia.
Predisposal of Interferon Regulatory Factor 1 Deficiency to Accumulate DNA Damage and Promote Osteoarthritis Development in Cartilage.
Title: Predisposal of Interferon Regulatory Factor 1 Deficiency to Accumulate DNA Damage and Promote Osteoarthritis Development in Cartilage.
Opposing tumor-cell-intrinsic and -extrinsic roles of the IRF1 transcription factor in antitumor immunity.
Title: Opposing tumor-cell-intrinsic and -extrinsic roles of the IRF1 transcription factor in antitumor immunity.
Transcriptomics confirms IRF1 as a key regulator of pyroptosis in diabetic retinopathy.
Title: Transcriptomics confirms IRF1 as a key regulator of pyroptosis in diabetic retinopathy.
Cooperative interaction of interferon regulatory factor -1 and bromodomain-containing protein 4 on RNA polymerase activation for intrinsic innate immunity.
Title: Cooperative interaction of interferon regulatory factor -1 and bromodomain-containing protein 4 on RNA polymerase activation for intrinsic innate immunity.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (290)

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
Gastric cancer MedGen: C0024623 OMIM: 613659 GeneReviews: Not available	Compare labs
Immunodeficiency 117 MedGen: C5882739 OMIM: 620668 GeneReviews: Not available	not available
Lung cancer MedGen: C0242379 OMIM: 211980 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 EBI GWAS CatalogPubMed
Genome-wide interaction studies reveal sex-specific asthma risk alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiethnic meta-analysis of genome-wide association studies in &gt;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 EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 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)

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	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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN70464 (e-PCR)
- UniSTS:395264

REN70465 (e-PCR)
- UniSTS:395265

REN70466 (e-PCR)
- UniSTS:395266

REN70467 (e-PCR)
- UniSTS:395267

GDB:211052 (e-PCR)
- UniSTS:156163

REN70468 (e-PCR)
- UniSTS:395268

REN70469 (e-PCR)
- UniSTS:395269

ECD02816 (e-PCR)
- UniSTS:283909

REN70470 (e-PCR)
- UniSTS:395270

REN70471 (e-PCR)
- UniSTS:395271

REN70472 (e-PCR)
- UniSTS:395272

REN70473 (e-PCR)
- UniSTS:395273

REN70474 (e-PCR)
- UniSTS:395274

D11S2921 (e-PCR)
- UniSTS:152074

REN70475 (e-PCR)
- UniSTS:395275

REN70476 (e-PCR)
- UniSTS:395276

ECD03343 (e-PCR)
- UniSTS:284428

REN70477 (e-PCR)
- UniSTS:395277

REN70478 (e-PCR)
- UniSTS:395278

REN70479 (e-PCR)
- UniSTS:395279

REN70480 (e-PCR)
- UniSTS:395280

REN70481 (e-PCR)
- UniSTS:395281

REN70482 (e-PCR)
- UniSTS:395282

REN70483 (e-PCR)
- UniSTS:395283

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

D5S1548 (e-PCR)
- UniSTS:29205

ECD06964 (e-PCR)
- UniSTS:288022

PMC84085P1 (e-PCR)
- UniSTS:273439

ECD02591 (e-PCR)
- UniSTS:283685

PMC120056P1 (e-PCR)
- UniSTS:270377

ECD14446 (e-PCR)
- UniSTS:295467

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

ECD08800 (e-PCR)
- UniSTS:289848

STS-X14454 (e-PCR)
- UniSTS:64060

ECD03403 (e-PCR)
- UniSTS:284487

PMC109445P2 (e-PCR)
- UniSTS:270170

L17709 (e-PCR)
- UniSTS:42599

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

ECD02679 (e-PCR)
- UniSTS:283773

ECD18635 (e-PCR)
- UniSTS:299645

ECD13250 (e-PCR)
- UniSTS:294280

IRF1_162 (e-PCR)
- UniSTS:277387

D11S3114 (e-PCR)
- UniSTS:152207

ECD19204 (e-PCR)
- UniSTS:300211

GDB:581873 (e-PCR)
- UniSTS:157877

ECD11243 (e-PCR)
- UniSTS:292279

WI-7178 (e-PCR)
- UniSTS:74720

stSG601315 (e-PCR)
- UniSTS:444128

stSG601316 (e-PCR)
- UniSTS:444129

stSG601317 (e-PCR)
- UniSTS:444130

stSG601318 (e-PCR)
- UniSTS:444131

stSG601319 (e-PCR)
- UniSTS:444132

REN70438 (e-PCR)
- UniSTS:395238

REN70439 (e-PCR)
- UniSTS:395239

REN70440 (e-PCR)
- UniSTS:395240

REN70441 (e-PCR)
- UniSTS:395241

GDB:294203 (e-PCR)
- UniSTS:156393

ECD20803 (e-PCR)
- UniSTS:301801

REN70442 (e-PCR)
- UniSTS:395242

REN70443 (e-PCR)
- UniSTS:395243

REN70444 (e-PCR)
- UniSTS:395244

REN70445 (e-PCR)
- UniSTS:395245

REN70446 (e-PCR)
- UniSTS:395246

REN70447 (e-PCR)
- UniSTS:395247

REN70448 (e-PCR)
- UniSTS:395248

REN70449 (e-PCR)
- UniSTS:395249

REN70450 (e-PCR)
- UniSTS:395250

REN70451 (e-PCR)
- UniSTS:395251

REN70452 (e-PCR)
- UniSTS:395252

REN70453 (e-PCR)
- UniSTS:395253

REN70454 (e-PCR)
- UniSTS:395254

REN70455 (e-PCR)
- UniSTS:395255

REN70456 (e-PCR)
- UniSTS:395256

REN70457 (e-PCR)
- UniSTS:395257

REN70458 (e-PCR)
- UniSTS:395258

REN70459 (e-PCR)
- UniSTS:395259

REN70460 (e-PCR)
- UniSTS:395260

REN70461 (e-PCR)
- UniSTS:395261

REN70462 (e-PCR)
- UniSTS:395262

REN70463 (e-PCR)
- UniSTS:395263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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 sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within 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 defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in immune system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within positive regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of MyD88-dependent toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation 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
acts_upstream_of_or_within regulation of gene expression	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in type II interferon-mediated signaling pathway	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
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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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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_011450.1 RefSeqGene

Range

5001..14165

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NR_149068.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116366, KC209827
NR_149069.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116366, DA583594

Related

ENST00000493208.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

132481609..132490773 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417154.1 → XP_047273110.1 interferon regulatory factor 1 isoform X3
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 ...
XM_047417153.1 → XP_047273109.1 interferon regulatory factor 1 isoform X1