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

Gene ID: 11213, updated on 22-Aug-2020

Summary

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 MIM:604459
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]
Expression
Broad expression in bone marrow (RPKM 10.8), spleen (RPKM 8.1) and 21 other tissues See more
Orthologs

Genomic context

See IRAK3 in Genome Data Viewer
Location:
12q14.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (66189214..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 divergent transcript 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 PDCL3 pseudogene 7 Neighboring gene RN7SK pseudogene 166

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Asthma-related traits, susceptibility to, 5
MedGen: C1970224 OMIM: 611064 GeneReviews: Not available
Compare labs
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
interleukin-1-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-1-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of MAP kinase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
interleukin-1 receptor-associated kinase 3
Names
IL-1 receptor-associated kinase M
NP_001135995.1
NP_009130.2

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_021194.1 RefSeqGene

    Range
    5017..70425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142523.2NP_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
    ENSP00000409852.2, ENST00000457197.2
    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_007199.3NP_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
    ENSP00000261233.4, ENST00000261233.9
    Conserved Domains (3) summary
    smart00219
    Location:171443
    TyrKc; Tyrosine kinase, catalytic 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    66189214..66254622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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