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    IRAK3 interleukin 1 receptor associated kinase 3 [ Homo sapiens (human) ]

    Gene ID: 11213, updated on 25-Aug-2016
    Official Symbol
    IRAK3provided by HGNC
    Official Full Name
    interleukin 1 receptor associated kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:17020
    See related
    Ensembl:ENSG00000090376 HPRD:05123; MIM:604459; Vega:OTTHUMG00000169002
    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
    ASRT5; IRAKM
    Summary
    This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Orthologs
    Location:
    12q14.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (66189198..66254622)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66582978..66648402)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LLPH antisense RNA 1 (head to head) Neighboring gene LLP homolog, long-term synaptic facilitation Neighboring gene transmembrane BAX inhibitor motif containing 4 Neighboring gene uncharacterized LOC107984523 Neighboring gene RNA binding motif single stranded interacting protein 1 pseudogene 1 Neighboring gene microRNA 6502 Neighboring gene phosducin-like 3 pseudogene 7 Neighboring gene RNA, 7SK small nuclear pseudogene 166

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Asthma-related traits, susceptibility to, 5
    MedGen: C1970224 OMIM: 611064 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    NHGRI GWA Catalog
    • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
      Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
    • 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...
    • IL1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL1-mediated signaling events, organism-specific biosystem
      IL1-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
    • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
    • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
      MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
    • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
    • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
    • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
    • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
      Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13601

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    interleukin-1-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cytokine-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of interleukin-12 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-12 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of macrophage cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein complex disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of toll-like receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of macrophage tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein complex disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to exogenous dsRNA ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to peptidoglycan ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to virus IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    interleukin-1 receptor-associated kinase 3
    Names
    IL-1 receptor-associated kinase M
    IRAK3
    NP_001135995.1
    NP_009130.2

    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_021194.1 RefSeqGene

      Range
      5001..70425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142523.1NP_001135995.1  interleukin-1 receptor-associated kinase 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC078889, AC078927, AK298645, AL049435, BP292474, BQ009433
      Consensus CDS
      CCDS44937.1
      UniProtKB/Swiss-Prot
      Q9Y616
      Related
      ENSP00000409852, OTTHUMP00000239914, ENST00000457197, OTTHUMT00000401910
      Conserved Domains (3) summary
      smart00219
      Location:110382
      TyrKc; Tyrosine kinase, catalytic domain
      cd14160
      Location:110385
      PK_IRAK3; Pseudokinase domain of Interleukin-1 Receptor Associated Kinase 3
      cl14633
      Location:1551
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. NM_007199.2NP_009130.2  interleukin-1 receptor-associated kinase 3 isoform a

      See identical proteins and their annotated locations for NP_009130.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC078889, AF113136, AL049435, BC057800, BP292474, DA594800
      Consensus CDS
      CCDS8975.1
      UniProtKB/Swiss-Prot
      Q9Y616
      Related
      ENSP00000261233, OTTHUMP00000239912, ENST00000261233, OTTHUMT00000401908
      Conserved Domains (3) summary
      pfam00069
      Location:165441
      Pkinase; Protein kinase domain
      cd08796
      Location:15103
      Death_IRAK-M; Death domain of Interleukin 1 Receptor Associated Kinase-M
      cd14160
      Location:171446
      PK_IRAK3; Pseudokinase domain of Interleukin-1 Receptor Associated Kinase 3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      66189198..66254622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      66549846..66615516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)