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

Gene ID: 3659, updated on 24-Nov-2020

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
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
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

Genomic context

See IRF1 in Genome Data Viewer
Location:
5q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132481609..132490789, complement)
105 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 solute carrier family 22 member 5 Neighboring gene IRF1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2863 Neighboring gene interleukin 5 Neighboring gene RAD50 double strand break repair protein Neighboring gene Th2 cytokine locus control region Neighboring gene T helper type 2 locus control region associated RNA

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
GeneReviews: Not available
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
GeneReviews: Not available
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.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
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.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
interferon regulatory factor 1

NCBI Reference Sequences (RefSeq)

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_001354924.1NP_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
    Conserved Domains (1) summary
    pfam00605
    Location:7112
    IRF; Interferon regulatory factor transcription factor
  2. NM_001354925.1NP_001341854.1  interferon regulatory factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC116366, CT004274
    Conserved Domains (1) summary
    pfam00605
    Location:7112
    IRF; Interferon regulatory factor transcription factor
  3. NM_002198.3NP_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
    UniProtKB/TrEMBL
    Q6FHN8
    Related
    ENSP00000245414.4, ENST00000245414.9
    Conserved Domains (1) summary
    pfam00605
    Location:7112
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    132481609..132490789 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543379.2XP_011541681.1  interferon regulatory factor 1 isoform X1

    Conserved Domains (1) summary
    cl00096
    Location:128
    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 ...
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