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FLASH GENE
Symbol IRF1 contributors: mct/npt/pgu - updated : 08-12-2009
HGNC name interferon regulatory factor 1
HGNC id 6116
Location 5q31.1      Physical location : 131.817.300 - 131.826.465
Synonym symbol(s) MAR, EVI148, IRF-1
DNA
TYPE functioning gene
STRUCTURE 7.64 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure role for discrete motifs in the enhancer domain of IRF1 in directing polyubiquitination and degradation
MAPPING cloned Y linked Y status confirmed
Map cen - D5S86 - D5S404 - D5S150 - D5S642 - D5S2110 - D5S2057 - CSF2 - TCF7 - D5S666 - IL4 - D5S1427 - IL5 - D5S1548 - IL13 - IRF1 - D5S1984 - (D5S1995 - IL3 IL3 - D5S396 - IGES - SMAD5 - D5S2002 - D5S2117 - D5S2056 - D5S1995 - D5S2115 - D5S458 - D5S1657 ) - IL9 - D5S393 - D5S399 - [D5S479 - SPOCK1 - D5S52 - D5S166 - D5S500 - CDC25C - D5S414 - D5S1701 - EGR1 ] - qter
Text (CDKL3 ), see CSF1R and NETH
Physical map
SPEC2 5q31 KIAA1061 protein PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 3567 36.4 325 - 2009 19129219
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivestomach   moderately
Endocrinepancreas   moderately
Lymphoid/Immunelymph node   moderately
 spleen   moderately
 tonsils   predominantly
Reproductivefemale systemovary  moderately
 female systemuterus  highly
Respiratorylung   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
cell lineage
cell lines
fluid/secretion moderately in blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a tryptophan pentad repeat DNA-binding domain
  • C-terminal 70 AAs inhibits both its degradation and polyubiquitination, whereas removal of the C-terminal 25 AAs inhibits degradation of the protein but does not prevent its ubiquitination
  • HOMOLOGY
    interspecies homolog to rattus Irf1 (85.2 pc)
    homolog to murine Irf1 (85.5 pc)
    Homologene
    FAMILY
  • interferon regulatory transcription factor (IRF) family
  • CATEGORY immunity/defense , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • acting as a transcriptional activator for IFNA, IFNB and IFN-stimulated genes
  • being tumor suppressor transcription factor inducing apoptosis of tumorigenic cell lines
  • playing a role of modulator of virus-induced signaling
  • exhibiting a growth inhibitory function in coronary artery smooth muscle cells (limitation of neointimal hyperplasia)
  • mediates upregulation PSMB8 by IFN-gamma and concerted expression of immunosubunits of the proteasome
  • acts as a master regulator for the concerted expression of immunoproteasome components
  • transcription factor that regulates the functions of type I and II interferons and plays a role in host protection
  • transcription factor that regulates key processes in the immune system and in tumour suppression (F
  • role for IRF1 in regulating the DNA interstrand crosslink DNA damage response
  • tumour suppressor protein that is activated in response to viral infection and cell signalling activated by double stranded DNA lesions
  • may play a potentially important role as a breast cancer tumor suppressor gene
  • plays a critical role in eliminating TP53-damaged cells, and may play a more global role in mammary gland homeostasis
  • IFNG-induced transcription factor pivotal in the regulation of infection and inflammation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text
  • negative regulation of cell cycle
  • positive regulation of interleukin-12 biosynthetic process
  • positive regulation of transcription from RNA polymerase II promoter
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to upstream regulatory region of type I/FN and IFN inducible MHC class I genes (the interferon consensus sequence (ICS))
    RNA
    small molecule
    protein
  • IRF1 and IRF9 are sequentially activated and recruited to the IL27 IFN-stimulated regulatory element site
  • SMARCA4 may help IRF1 to overcome the chromatin barrier to activate TRIM22 transcription
  • IRF1 cooperates with NFKB to activate optineurin promoter
  • IRF1 and IRF2 could bind to IFP35 promoter and upregulate endogenous IFP35 protein level, and IRF1 activates IFP35 expression in an IFNG1-inducible manner
  • cell & other
    REGULATION
    induced by viruses and IFN
    repressed by UBE2I (UBE2I functions as a transcriptional repressor of IRF1 by inducing sumoylation, and this effect may be required for the physiological activity of IRF1)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in MDS, AML, differentiated gastric adenocarcinomas (see TSG5D)
    Susceptibility
  • putative susceptibility gene for rheumatoid arthritis and for asthma
  • to Beh
  • et disease with thrombotic event
    Variant & Polymorphism other frequency of the CAAA haplotype was significantly higher in BD patients that had experienced a thrombotic event
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS