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IRF1 (interferon regulatory factor 1)

Written2008-01Patricia Palladinetti, Geoff Symonds, Alla Dolnikov
Children's Cancer Institute Australia for Medical Research, PO Box 81 (High St), Randwick, NSW 2031, Australia (PP, GS) ; Sydney Cord, Marrow Transplant Facility, Sydney Children's Hospital, High Street, Randwick NSW 2031, Australia (AD)

(Note : for Links provided by Atlas : click)

Identity

Other namesIRF-1
MAR
HGNC (Hugo) IRF1
LocusID (NCBI) 3659
Atlas_Id 40990
Location 5q31.1
Location_base_pair Starts at 131817301 and ends at 131826465 bp from pter ( according to hg19-Feb_2009)  [Mapping IRF1.png]
Note Interferon regulatory factor 1 belongs to a family of transcription factors described for their role in regulating type I and type II interferons. Specifically, IRF1 has been identified as an activator of interferon alpha and beta transcription. Furthermore, it has been shown to play a role in the regulation of tumour suppression. IRF1 lies between interleukin (IL)-5 and CDC25C and is centromeric to IL-3 and GM-CSF. A number of mechanisms have been identified through which IRF1 is inactivated in various cancers. These, mechanisms include, deletion of the IRF1 region of chromosome 5q31; expression of IRF2; exon-skipping; binding of nucleophosmin; inactivation of tumour suppression by human papilloma viral oncogene, E7; and alternative splice variants lacking exons 7, 8, 9.

DNA/RNA

 
Description 7.72 kb with 10 exons and 9 introns.
Transcription 2.035kb mRNA. Coding sequence: CDS 198-1175.
IRF1 mRNA is expressed in low levels in a variety of tissues including, heart, lung, thymus, kidney and activated spleen.

Protein

Note IRF1 protein consists of 325 aa (36 kDa).
Description IRF1 protein has an half-life of approximately 30 min.
Localisation Nucleus
Function Transcriptional activator of type I interferons.

Mutations

Note Deletion in 5q rearrangement of IRF1 are associated with preleukemic myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). The most commonly reported cytogenetic abnormalities in leukaemia and preleukaemic myelodysplastic syndromes are found within 5q or loss of the entire choromosome 5. The most commonly deleted region was found to be 5q31. Willman et al. reported the tumour suppressor gene, IRF1 is situated within this 5q31 region . A common translocation found in AML is between chromosome 8q22 and chromosome 21q22. This translocation is found in approximately 40% of FAB-M2 AML and 8-20% of all AML.

Implicated in

Note
Entity Acute Myeloid Leukaemia (AML)
Disease AML is an heterogenous disease representating clonal haematopoietic stem cell disorders. Initially classified under a French-American-British (FAB) co-operative group describing eight categories dependent on cell morphology on May-Grunwald-Giemsa (MGG) staining of peripheral blood and bone marrow smears. More recently, the World Health Organisation (WHO) proposed a new classification dependent on morphological, cytochemical, immunophenotypic, cytogenetic and molecular determinants that incorporates more recent developments in this disease and thereby reduce the limitations experienced under the FAB classification. Activation of the mutant N-ras gene in some myeloid cell lines induced growth suppression through IRF1.
Prognosis Prognosis is poor for most AML patients, depending on age and other unfavorable biological features.
Cytogenetics Translocations: t(8;21)(q22;q22), inv(16)(p13q22), t(15;17)(q22;q21), t(11;17)(q23;q21), or 11q23 rearrangements
  
Entity Preleukaemic Myelodysplastic Syndromes (MDS)
Note 30% of patients exhibit a deletion in chromosome 5q
Disease MDS is an heterogenous group of diseases representing clonal bone marrow disorders. They are characterised by cytopenias with ineffective haematopoisis often progressing despite bone marrow transplants and may result in acute myeloid leukaemia. Chromosomal abnormalities are commonly found in this disease.
  
Entity Breast Cancer
Disease The transcriptional regulation of human caspase-8 gene expression in the breast tumour cell line, MCF-7 was studied and found to be induced by IFN-gamma inducible transcription factor IRF1. Further studies have shown that IRF1 behaves as a tumour suppressor gene in breast cancer through caspase activation and induction of apoptosis. This suppression of apoptosis was observed independently of p53. Pizzoferrato et al., showed that ectopic expression of IRF1 using an adenovirus delivery system led to a decrease in survivin expression and an increase in cell death in breast cancer cell lines. This study also showed that p21 was up-regulated in IRF1-infected breast cancer cells independent of p53 modulation. Microarray analysis of clinically defined invasive breast carcinoma identified a negative correlation with IRF1 expression and tumour grade. High-grade breast carcinomas were found not to maintain IRF1 expression. IRF1 has also been shown to induce ligand-independent fas-associated death domain/caspase-8 mediated apoptosis in breast cancer cells.
Cytogenetics A single nucleotide polymorphism, A4396G in IRF1 was found to occur more frequently in breast cancer cell lines than in the general population. In addition, this polymorphism was more frequently expressed in the African American population than the European population.
  
Entity Cervical cancer
Note Alternative splicing of exons 7, 8 and 9 is implicated in cervical cancer.
Disease Lee et al., demonstrated that p27Kip1 inhibits hTERT mRNA expression and telomerase activity through post-transcriptional up-regulation by IFN-gamma/IRF-1 signalling.
  
Entity Gastric cancer
Note A point mutation in the second exon of the IRF1 gene with a methionine substituted with leucine at codon 8 was identified.
Disease Loss of heterozygosity at the IRF1 locus was found in 9 cases of histologically differentiated gastric adenocarcinomas. A mis-sense mutation in the residual allele was found in one case. This mutation in IRF1 was reported by Nozawa et al. to lead to reduced transcriptional activity but no change in its DNA-binding activity was observed. The loss of functional IRF1 is a key factor in development human gastric cancer.
  
Entity Oesophageal Cancer
Disease Oesophageal cancer is an aggressive tumour with two subtypes described, including: oesophageal squamous cell carcinoma (ESCC) and oesophageal adenocarcinoma. Following IFNgamma stimulation of three oesophageal cancer cell lines IRF1 was produced but did not lead to cell death. In contrast, adenoviral-IRF1 (Ad-IRF1) infection of these cell lines induced high IRF1 production resulting in apoptosis. Furthermore, a murine model of oesophageal cancer injected with Ad-IRF1 moderately inhibited tumour growth but did not induce tumour regression. Analysis of primary samples of oesophageal squamous cell carcinoma revealed decreased IRF1 expression and increased IRF2 expression compared to adjacent normal oesophageal tissue. In addition, overexpression of IRF1 inhibited tumorigenicity of ESCC cells when injected in vivo in nude mice.
Prognosis Ranked eighth most common malignancy and sixth most frequent cause of cancer worldwide.
Cytogenetics The most frequent occurance is loss of heterozygosity either single or multiple loci on chromosome 5q. The smallest deletion is found at 5q31.1 the same position for the IRF1 gene.
  
Entity Ovarian Cancer
Disease Interferon gamma has been shown to inhibit proliferation of a number of ovarian cancer cell lines in vitro. This growth inhibition and apoptotic effect in ovarian cancer cells was associated with a sustained increase in both IRF1 and p21. Kim et al., proposed a role for IRF1 in mediating IFNgamma-induced apoptosis through activation of caspase-1 gene expression in IFNgamma-sensitive ovarian cancer cells. IFNgamma was shown to induce IRF1 through the IFNgamma signalling pathway which in turn activated caspase-1. This was shown to lead to apoptosis of ovarian cancer cells, 2774 and PA-1, both sensitive to IFNgamma.
Prognosis Early stage diagnosis of epithelial ovarian cancer one can anticipate 90% survival. However, only 20-30% of patients with stage III epithelial ovarian carcinoma survive after 5 years.
  
Entity Melanoma
Disease Lowney et al., described evidence showing IRF1 protein expression correlated to morphologic characteristics associated with less advanced disease in human melanoma.
  
Entity Bladder Cancer
Disease Bladder cancer is ranked 9th in worldwide cancer incidence. A recent study determined that tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and downstream TRAIL-regulated apoptotic mechanisms are involved in IFNalpha-induced cell death in human bladder cancer cell line through a STAT1/IRF1-dependent pathway.
  

Bibliography

Regulated expression of a gene encoding a nuclear factor, IRF-1, that specifically binds to IFN-beta gene regulatory elements.
Miyamoto M, Fujita T, Kimura Y, Maruyama M, Harada H, Sudo Y, Miyata T, Taniguchi T
Cell. 1988 ; 54 (6) : 903-913.
PMID 3409321
 
Absence of the type I IFN system in EC cells: transcriptional activator (IRF-1) and repressor (IRF-2) genes are developmentally regulated.
Harada H, Willison K, Sakakibara J, Miyamoto M, Fujita T, Taniguchi T
Cell. 1990 ; 63 (2) : 303-312.
PMID 2208287
 
Human interferon regulatory factor 1: intron-exon organization.
Cha Y, Sims SH, Romine MF, Kaufmann M, Deisseroth AB
DNA and cell biology. 1992 ; 11 (8) : 605-611.
PMID 1382447
 
Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome.
Boultwood J, Fidler C, Lewis S, MacCarthy A, Sheridan H, Kelly S, Oscier D, Buckle VJ, Wainscoat JS
Blood. 1993 ; 82 (9) : 2611-2616.
PMID 8219215
 
Deletion of IRF-1, mapping to chromosome 5q31.1, in human leukemia and preleukemic myelodysplasia.
Willman CL, Sever CE, Pallavicini MG, Harada H, Tanaka N, Slovak ML, Yamamoto H, Harada K, Meeker TC, List AF
Science (New York, N.Y.). 1993 ; 259 (5097) : 968-971.
PMID 8438156
 
Accelerated exon skipping of IRF-1 mRNA in human myelodysplasia/leukemia; a possible mechanism of tumor suppressor inactivation.
Harada H, Kondo T, Ogawa S, Tamura T, Kitagawa M, Tanaka N, Lamphier MS, Hirai H, Taniguchi T
Oncogene. 1994 ; 9 (11) : 3313-3320.
PMID 7936656
 
Common deleted region on the long arm of chromosome 5 in esophageal carcinoma.
Ogasawara S, Tamura G, Maesawa C, Suzuki Y, Ishida K, Satoh N, Uesugi N, Saito K, Satodate R
Gastroenterology. 1996 ; 110 (1) : 52-57.
PMID 8536888
 
Identification and characterization of nucleophosmin/B23/numatrin which binds the anti-oncogenic transcription factor IRF-1 and manifests oncogenic activity.
Kondo T, Minamino N, Nagamura-Inoue T, Matsumoto M, Taniguchi T, Tanaka N
Oncogene. 1997 ; 15 (11) : 1275-1281.
PMID 9315094
 
Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer.
Nozawa H, Oda E, Ueda S, Tamura G, Maesawa C, Muto T, Taniguchi T, Tanaka N
International journal of cancer. Journal international du cancer. 1998 ; 77 (4) : 522-527.
PMID 9679752
 
Distinct regions of frequent loss of heterozygosity of chromosome 5p and 5q in human esophageal cancer.
Peralta RC, Casson AG, Wang RN, Keshavjee S, Redston M, Bapat B
International journal of cancer. Journal international du cancer. 1998 ; 78 (5) : 600-605.
PMID 9808529
 
Cytotoxic response of ovarian cancer cell lines to IFN-gamma is associated with sustained induction of IRF-1 and p21 mRNA.
Burke F, Smith PD, Crompton MR, Upton C, Balkwill FR
British journal of cancer. 1999 ; 80 (8) : 1236-1244.
PMID 10376977
 
Lack of IRF-1 expression in acute promyelocytic leukemia and in a subset of acute myeloid leukemias with del(5)(q31).
Green WB, Slovak ML, Chen IM, Pallavicini M, Hecht JL, Willman CL
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (12) : 1960-1971.
PMID 10602416
 
Interferon regulatory factor-1 and -2 expression in human melanoma specimens.
Lowney JK, Boucher LD, Swanson PE, Doherty GM
Annals of surgical oncology. 1999 ; 6 (6) : 604-608.
PMID 10493631
 
Alterations in IRF1/IRF2 expression in acute myelogenous leukemia.
Preisler HD, Perambakam S, Li B, Hsu WT, Venugopal P, Creech S, Sivaraman S, Tanaka N
American journal of hematology. 2001 ; 68 (1) : 23-31.
PMID 11559933
 
Interferon regulatory factor-1 mediates interferon-gamma-induced apoptosis in ovarian carcinoma cells.
Kim EJ, Lee JM, Namkoong SE, Um SJ, Park JS
Journal of cellular biochemistry. 2002 ; 85 (2) : 369-380.
PMID 11948692
 
Ectopic expression of interferon regulatory factor-1 promotes human breast cancer cell death and results in reduced expression of survivin.
Pizzoferrato E, Liu Y, Gambotto A, Armstrong MJ, Stang MT, Gooding WE, Alber SM, Shand SH, Watkins SC, Storkus WJ, Yim JH
Cancer research. 2004 ; 64 (22) : 8381-8388.
PMID 15548708
 
The up-regulation of human caspase-8 by interferon-gamma in breast tumor cells requires the induction and action of the transcription factor interferon regulatory factor-1.
Ruiz-Ruiz C, Ruiz de Almodóvar C, Rodríguez A, Ortiz-Ferrón G, Redondo JM, López-Rivas A
The Journal of biological chemistry. 2004 ; 279 (19) : 19712-19720.
PMID 14993214
 
Acute myeloid leukemia.
Stone RM, O'Donnell MR, Sekeres MA
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2004 : 98-117.
PMID 15561679
 
Interferon regulatory factor-1 (IRF-1) exhibits tumor suppressor activities in breast cancer associated with caspase activation and induction of apoptosis.
Bouker KB, Skaar TC, Riggins RB, Harburger DS, Fernandez DR, Zwart A, Wang A, Clarke R
Carcinogenesis. 2005 ; 26 (9) : 1527-1535.
PMID 15878912
 
Interferon regulatory factor 1 (IRF-1) and IRF-2 expression in breast cancer tissue microarrays.
Connett JM, Badri L, Giordano TJ, Connett WC, Doherty GM
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research. 2005 ; 25 (10) : 587-594.
PMID 16241857
 
IFN-gamma/IRF-1-induced p27kip1 down-regulates telomerase activity and human telomerase reverse transcriptase expression in human cervical cancer.
Lee SH, Kim JW, Oh SH, Kim YJ, Rho SB, Park K, Park KL, Lee JH
FEBS letters. 2005 ; 579 (5) : 1027-1033.
PMID 15710386
 
N-ras-induced growth suppression of myeloid cells is mediated by IRF-1.
Passioura T, Dolnikov A, Shen S, Symonds G
Cancer research. 2005 ; 65 (3) : 797-804.
PMID 15705876
 
A retroviral library genetic screen identifies IRF-2 as an inhibitor of N-ras-induced growth suppression in leukemic cells.
Passioura T, Shen S, Symonds G, Dolnikov A
Oncogene. 2005 ; 24 (49) : 7327-7336.
PMID 16007130
 
The role of IRF1 and IRF2 transcription factors in leukaemogenesis.
Choo A, Palladinetti P, Passioura T, Shen S, Lock R, Symonds G, Dolnikov A
Current gene therapy. 2006 ; 6 (5) : 543-550.
PMID 17073600
 
Alternative splicing variants of IRF-1 lacking exons 7, 8, and 9 in cervical cancer.
Lee EJ, Jo M, Park J, Zhang W, Lee JH
Biochemical and biophysical research communications. 2006 ; 347 (4) : 882-888.
PMID 16857162
 
Classification and scoring systems in myelodysplastic syndromes: a retrospective analysis of 311 patients.
Navarro I, Ruiz MA, Cabello A, Collado R, Ferrer R, Hueso J, Martinez J, Miguel A, Orero MT, Pérez P, Nolasco A, Carbonell F
Leukemia research. 2006 ; 30 (8) : 971-977.
PMID 16423393
 
Ad-IRF-1 induces apoptosis in esophageal adenocarcinoma.
Watson GA, Queiroz de Oliveira PE, Stang MT, Armstrong MJ, Gooding WE, Kuan SF, Yim JH, Hughes SJ
Neoplasia (New York, N.Y.). 2006 ; 8 (1) : 31-37.
PMID 16533423
 
The A4396G polymorphism in interferon regulatory factor 1 is frequently expressed in breast cancer cell lines.
Bouker KB, Skaar TC, Harburger DS, Riggins RB, Fernandez DR, Zwart A, Clarke R
Cancer genetics and cytogenetics. 2007 ; 175 (1) : 61-64.
PMID 17498560
 
Interferon-alpha induces TRAIL expression and cell death via an IRF-1-dependent mechanism in human bladder cancer cells.
Papageorgiou A, Dinney CP, McConkey DJ
Cancer biology & therapy. 2007 ; 6 (6) : 872-879.
PMID 17617740
 
Acute myeloid leukemia with the 8q22;21q22 translocation: secondary mutational events and alternative t(8;21) transcripts.
Peterson LF, Boyapati A, Ahn EY, Biggs JR, Okumura AJ, Lo MC, Yan M, Zhang DE
Blood. 2007 ; 110 (3) : 799-805.
PMID 17412887
 
Recent advances in myelodysplastic syndromes.
Shadduck RK, Latsko JM, Rossetti JM, Haq B, Abdulhaq H
Experimental hematology. 2007 ; 35 (4 Suppl 1) : 137-143.
PMID 17379099
 
Interferon regulatory factor-1-induced apoptosis mediated by a ligand-independent fas-associated death domain pathway in breast cancer cells.
Stang MT, Armstrong MJ, Watson GA, Sung KY, Liu Y, Ren B, Yim JH
Oncogene. 2007 ; 26 (44) : 6420-6430.
PMID 17452973
 
Involvement of IFN regulatory factor (IRF)-1 and IRF-2 in the formation and progression of human esophageal cancers.
Wang Y, Liu DP, Chen PP, Koeffler HP, Tong XJ, Xie D
Cancer research. 2007 ; 67 (6) : 2535-2543.
PMID 17363571
 

Citation

This paper should be referenced as such :
Palladinetti, P ; Symonds, G ; Dolnikov, A
IRF1 (interferon regulatory factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):367-370.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/IRF1ID40990ch5q23.html


External links

Nomenclature
HGNC (Hugo)IRF1   6116
Cards
AtlasIRF1ID40990ch5q23
Entrez_Gene (NCBI)IRF1  3659  interferon regulatory factor 1
AliasesIRF-1; MAR
GeneCards (Weizmann)IRF1
Ensembl hg19 (Hinxton)ENSG00000125347 [Gene_View]  chr5:131817301-131826465 [Contig_View]  IRF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125347 [Gene_View]  chr5:131817301-131826465 [Contig_View]  IRF1 [Vega]
ICGC DataPortalENSG00000125347
TCGA cBioPortalIRF1
AceView (NCBI)IRF1
Genatlas (Paris)IRF1
WikiGenes3659
SOURCE (Princeton)IRF1
Genomic and cartography
GoldenPath hg19 (UCSC)IRF1  -     chr5:131817301-131826465 -  5q23-q31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IRF1  -     5q23-q31   [Description]    (hg38-Dec_2013)
EnsemblIRF1 - 5q23-q31 [CytoView hg19]  IRF1 - 5q23-q31 [CytoView hg38]
Mapping of homologs : NCBIIRF1 [Mapview hg19]  IRF1 [Mapview hg38]
OMIM147575   211980   613659   
Gene and transcription
Genbank (Entrez)AA402319 AB103081 AB209624 AK298770 AK314025
RefSeq transcript (Entrez)NM_002198
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011450 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)IRF1
Cluster EST : UnigeneHs.436061 [ NCBI ]
CGAP (NCI)Hs.436061
Alternative Splicing GalleryENSG00000125347
Gene ExpressionIRF1 [ NCBI-GEO ]   IRF1 [ EBI - ARRAY_EXPRESS ]   IRF1 [ SEEK ]   IRF1 [ MEM ]
Gene Expression Viewer (FireBrowse)IRF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3659
GTEX Portal (Tissue expression)IRF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10914 (Uniprot)
NextProtP10914  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10914
Splice isoforms : SwissVarP10914 (Swissvar)
PhosPhoSitePlusP10914
Domaine pattern : Prosite (Expaxy)IRF_1 (PS00601)    IRF_2 (PS51507)   
Domains : Interpro (EBI)Interferon_reg_fac_CS    Interferon_reg_fact_DNA-bd_dom    IRF1    IRF1/IRF2    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)IRF (PF00605)   
Domain families : Pfam (NCBI)pfam00605   
Domain families : Smart (EMBL)IRF (SM00348)  
DMDM Disease mutations3659
Blocks (Seattle)IRF1
SuperfamilyP10914
Human Protein AtlasENSG00000125347
Peptide AtlasP10914
HPRD00961
IPIIPI00023600   IPI00555776   IPI00657794   IPI00879077   IPI00893073   
Protein Interaction databases
DIP (DOE-UCLA)P10914
IntAct (EBI)P10914
FunCoupENSG00000125347
BioGRIDIRF1
STRING (EMBL)IRF1
ZODIACIRF1
Ontologies - Pathways
QuickGOP10914
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  regulation of adaptive immune response  DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  apoptotic process  cell cycle arrest  blood coagulation  negative regulation of cell proliferation  positive regulation of type I interferon production  positive regulation of interferon-beta production  regulation of MyD88-dependent toll-like receptor signaling pathway  cellular response to interferon-beta  CD8-positive, alpha-beta T cell differentiation  positive regulation of interleukin-12 biosynthetic process  regulation of innate immune response  negative regulation of regulatory T cell differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  defense response to virus  regulation of cell cycle  interferon-gamma-mediated signaling pathway  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  cellular response to mechanical stimulus  regulation of CD8-positive, alpha-beta T cell proliferation  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  regulation of adaptive immune response  DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  apoptotic process  cell cycle arrest  blood coagulation  negative regulation of cell proliferation  positive regulation of type I interferon production  positive regulation of interferon-beta production  regulation of MyD88-dependent toll-like receptor signaling pathway  cellular response to interferon-beta  CD8-positive, alpha-beta T cell differentiation  positive regulation of interleukin-12 biosynthetic process  regulation of innate immune response  negative regulation of regulatory T cell differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  defense response to virus  regulation of cell cycle  interferon-gamma-mediated signaling pathway  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  cellular response to mechanical stimulus  regulation of CD8-positive, alpha-beta T cell proliferation  
Pathways : BIOCARTAThe information-processing pathway at the IFN-beta enhancer [Genes]   
Pathways : KEGGProlactin signaling pathway    Pertussis    Hepatitis C   
REACTOMEP10914 [protein]
REACTOME PathwaysR-HSA-877300 Interferon gamma signaling [pathway]
REACTOME PathwaysR-HSA-933541 TRAF6 mediated IRF7 activation [pathway]
REACTOME PathwaysR-HSA-909733 Interferon alpha/beta signaling [pathway]
REACTOME PathwaysR-HSA-983231 Factors involved in megakaryocyte development and platelet production [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkIRF1
Wikipedia pathwaysIRF1
Orthology - Evolution
OrthoDB3659
GeneTree (enSembl)ENSG00000125347
Phylogenetic Trees/Animal Genes : TreeFamIRF1
Homologs : HomoloGeneIRF1
Homology/Alignments : Family Browser (UCSC)IRF1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerIRF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IRF1
dbVarIRF1
ClinVarIRF1
1000_GenomesIRF1 
Exome Variant ServerIRF1
ExAC (Exome Aggregation Consortium)IRF1 (select the gene name)
Genetic variants : HAPMAP3659
Genomic Variants (DGV)IRF1 [DGVbeta]
Mutations
ICGC Data PortalIRF1 
TCGA Data PortalIRF1 
Broad Tumor PortalIRF1
OASIS PortalIRF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIRF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IRF1
DgiDB (Drug Gene Interaction Database)IRF1
DoCM (Curated mutations)IRF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IRF1 (select a term)
intoGenIRF1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131817301-131826465  ENSG00000125347
CONAN: Copy Number AnalysisIRF1 
Mutations and Diseases : HGMDIRF1
OMIM147575    211980    613659   
MedgenIRF1
Genetic Testing Registry IRF1
NextProtP10914 [Medical]
TSGene3659
GENETestsIRF1
Huge Navigator IRF1 [HugePedia]
snp3D : Map Gene to Disease3659
BioCentury BCIQIRF1
ClinGenIRF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3659
Chemical/Pharm GKB GenePA29915
Clinical trialIRF1
Miscellaneous
canSAR (ICR)IRF1 (select the gene name)
Probes
Litterature
PubMed248 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIRF1
EVEXIRF1
GoPubMedIRF1
iHOPIRF1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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