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

Gene ID: 11213, updated on 24-Jan-2015
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
See IRAK3 in MapViewer
Location:
12q14.3
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LLP homolog, long-term synaptic facilitation (Aplysia) Neighboring gene transmembrane BAX inhibitor motif containing 4 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 helicase (DNA) B

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...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
  • 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 
toll-like receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-1 receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
interleukin-1 receptor-associated kinase 3
Names
interleukin-1 receptor-associated kinase 3
IRAK3
IL-1 receptor-associated kinase M
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 

    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
    Conserved Domains (3) summary
    cd00180
    Location:110332
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:104380
    Pkinase; Protein kinase domain
    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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    63633632..63699237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)