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

Gene ID: 3659, updated on 2-Sep-2018

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; Vega:OTTHUMG00000059497
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 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC102723741 Neighboring gene chromosome 5 open reading frame 56 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lung cancer
MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
Compare labs
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
NHGRI GWA Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA 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.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA 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.
NHGRI GWA Catalog

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 BioSystems

  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
    Glucocorticoid receptor regulatory network, organism-specific biosystem
    Glucocorticoid receptor regulatory network
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hepatitis C, organism-specific biosystem (from KEGG)
    Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Hepatitis C, conserved biosystem (from KEGG)
    Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • IFN-gamma pathway, organism-specific biosystem (from Pathway Interaction Database)
    IFN-gamma pathway, organism-specific biosystem
    IFN-gamma pathway
  • IL-6 signaling pathway, organism-specific biosystem (from WikiPathways)
    IL-6 signaling pathway, organism-specific biosystemIL-6 is a pleiotropic cytokine with important role in immune regulation, hematopoiesis, inflammation and oncogenesis. IL-6-type cytokines exert their action via the signal transducer gp130 that assoc...
  • IL12 signaling mediated by STAT4, organism-specific biosystem (from Pathway Interaction Database)
    IL12 signaling mediated by STAT4, organism-specific biosystem
    IL12 signaling mediated by STAT4
  • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL6-mediated signaling events, organism-specific biosystem
    IL6-mediated signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
    Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
  • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
    Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Prolactin Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Prolactin Signaling Pathway, organism-specific biosystemProlactin (PRL), a pleiotropic polypeptide hormone, mostly secreted by the lactotrophic cells of anterior pituitary gland and to a lesser extent expressed in numerous extra pituitary tissues such as ...
  • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
    Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • Prolactin signaling pathway, conserved biosystem (from KEGG)
    Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
  • TRAF6 mediated IRF7 activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated IRF7 activation, organism-specific biosystemTRAF6 is crucial for both RIG-I- and MDA5-mediated antiviral responses. The absence of TRAF6 resulted in enhanced viral replication and a significant reduction in the production of type I IFNs and IL...
  • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
    Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...

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 
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 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 biosynthetic process 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, 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 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
interferon regulatory factor 1
Names
interferon regulatory factor 1 isoform +I9
interferon regulatory factor 1 isoform d78
interferon regulatory factor 1 isoform d9,10+
interferon regulatory factor 1 isoform delta4
interferon regulatory factor 1 isoform delta7

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_002198.2NP_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, OTTHUMP00000065831, ENST00000245414.8, OTTHUMT00000132340
    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_149069.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116366, DA583594

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 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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