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    IRF4 interferon regulatory factor 4 [ Homo sapiens ]

    Gene ID: 3662, updated on 11-May-2012

    Summary

    Official Symbol
    IRF4provided by HGNC
    Official Full Name
    interferon regulatory factor 4provided by HGNC
    Primary source
    HGNC:6119
    See related
    Ensembl:ENSG00000137265; HPRD:03543; MIM:601900; Vega:OTTHUMG00000016294
    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
    MUM1; LSIRF; NF-EM5
    Summary
    The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]

    Genomic context

    Location :
    6p25-p23
    Sequence :
    Chromosome: 6; NC_000006.11 (391739..411443)
    See IRF4 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC642316 Neighboring gene dual specificity phosphatase 22 Neighboring gene exocyst complex component 2 Neighboring gene MAP/microtubule affinity-regulating kinase 2 pseudogene Neighboring gene HUS1 checkpoint homolog b (S. pombe)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q15306 P41182 BCL6    HPRD  PubMed  
    Q15306 Q02790 FKBP4    HPRD  PubMed  
    Q15306 Q99836 MYD88    HPRD  PubMed  
    Q15306 Q13469 NFATC2    HPRD  PubMed  
    Q15306 O75626 PRDM1    HPRD  PubMed  
    Q15306 P17947 SPI1    HPRD  PubMed  
    Q15306 Q01892 SPIB    HPRD  PubMed  
    Q15306 P42226 STAT6    HPRD  PubMed  
    Q15306 Q12933 TRAF2    HPRD  PubMed  
    BioGRID:109870 BioGRID:115792 BATF    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:107076 BCL6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109870 BioGRID:115760 CARM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109870 BioGRID:119581 ETV7    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:108578 FKBP4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109870 BioGRID:115744 HOXB13    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:109467 HOXC11    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:114090 IKBKAP    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:109870 BioGRID:109863 IRAK1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:109870 BioGRID:110846 NFATC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109870 BioGRID:116717 PEG10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109870 BioGRID:111613 PROX1    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:124226 PRRC2B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109870 BioGRID:198355 Prdm1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109870 BioGRID:112566 SPI1    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex 
    BioGRID:109870 BioGRID:112655 STAT6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109870 BioGRID:116201 TLK2    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:109870 BioGRID:113038 TRAF2    BioGRID  PubMed Two-hybrid 
    BioGRID:109870 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109870 BioGRID:120855 VPS35    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109870 BioGRID:122321 YTHDC2    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 

    General gene information

    Markers

    Homology

    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 ...
    • Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    • 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...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-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...
    • 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 ...
    • 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 ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription factor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    histone H3 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    histone H4 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-10 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-13 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-2 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-4 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of T-helper cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-dependent NAS
    Non-traceable Author Statement
    more info
    PubMed 
    type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear nucleosome IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interferon regulatory factor 4
    Names
    interferon regulatory factor 4
    multiple myeloma oncogene 1
    lymphocyte-specific interferon regulatory factor

    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_027728.1 RefSeqGene

      Range
      5001..24705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195286.1NP_001182215.1  interferon regulatory factor 4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AL512308, AL589962, AW197089, BG230623, BM551611, CR977713, U52682, U63738
      UniProtKB/Swiss-Prot
      Q15306
      Related
      ENSP00000398530, ENST00000412334
      Conserved Domains (2) summary
      cd00103
      Location:23129
      Blast Score: 356
      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 ...
      pfam10401
      Location:248417
      Blast Score: 598
      IRF-3; Interferon-regulatory factor 3
    2. NM_002460.3NP_002451.2  interferon regulatory factor 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL512308, AL589962, AW197089, BC015752, BG230623, BM551611, CR977713, U52682, U63738
      Consensus CDS
      CCDS4469.1
      UniProtKB/Swiss-Prot
      Q15306
      Related
      ENSP00000370343, OTTHUMP00000017905, ENST00000380956, OTTHUMT00000043638
      Conserved Domains (2) summary
      cd00103
      Location:23129
      Blast Score: 357
      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 ...
      pfam10401
      Location:249418
      Blast Score: 598
      IRF-3; Interferon-regulatory factor 3

    RNA

    1. NR_046000.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) contains an alternate 3' splice pattern, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL512308, AL589962, AW197089, BC015752, D78261, U52682

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      391739..411443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      264308..284078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_036585.1: Suppressed sequence

      Description
      NR_036585.1: This RefSeq was permanently suppressed because currently there is support for the transcript.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL365272.20 CAH72537.1
    genomic AL512308.19 (100..3558) None
    genomic AL589962.3 CAH71554.1
    genomic CH471087.1 EAW55056.1
      EAW55057.1
      EAW55058.1
      EAW55059.1
      EAW55060.1
    genomic U52683.1 None
    mRNA AK130762.1 None
    mRNA AK310149.1 None
    mRNA AW197089.1 None
    mRNA BC015752.1 AAH15752.1
    mRNA BG230623.1 None
    mRNA BM551611.1 None
    mRNA CR977713.1 None
    mRNA D78261.1 BAA11335.1
    mRNA U52682.1 AAC50779.1
    mRNA U63738.1 AAB37258.1
    other-genetic DQ893472.2 ABM84398.1
    other-genetic DQ896302.2 ABM87301.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15306.1 GenPept UniProtKB/Swiss-Prot:Q15306
    Q99419 GenPept UniProtKB/TrEMBL:Q99419

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