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 suscep... See more...

Aliases for IRAK3 Gene

Aliases for IRAK3 Gene

  • Interleukin 1 Receptor Associated Kinase 3 2 3 5
  • Interleukin-1 Receptor-Associated Kinase 3 2 3 4
  • IL-1 Receptor-Associated Kinase M 3 4
  • EC 2.7.11.1 4
  • IRAK-3 4
  • IRAK-M 4
  • ASRT5 3
  • IRAKM 3

External Ids for IRAK3 Gene

Previous GeneCards Identifiers for IRAK3 Gene

  • GC12P065974
  • GC12P066443
  • GC12P066299
  • GC12P064869
  • GC12P066582
  • GC12P063633

Summaries for IRAK3 Gene

Entrez Gene Summary for IRAK3 Gene

  • 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]

GeneCards Summary for IRAK3 Gene

IRAK3 (Interleukin 1 Receptor Associated Kinase 3) is a Protein Coding gene. Diseases associated with IRAK3 include Asthma-Related Traits 5 and Pleuropneumonia. Among its related pathways are Toll Comparative Pathway and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is IRAK1.

UniProtKB/Swiss-Prot Summary for IRAK3 Gene

  • Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex.

Tocris Summary for IRAK3 Gene

  • The IRAKs (Interleukin-1 receptor-associated kinases) are serine-threonine kinases, EC 2.7.11.1, that are essential regulators of IL-1R and TLR-mediated signaling. Four IRAK isoforms have been identified to date, IRAK1, IRAK2, IRAK3 (IRAK-M) and IRAK4.

Gene Wiki entry for IRAK3 Gene

Additional gene information for IRAK3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRAK3 Gene

Genomics for IRAK3 Gene

GeneHancer (GH) Regulatory Elements for IRAK3 Gene

Promoters and enhancers for IRAK3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRAK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IRAK3 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for IRAK3 Gene

Genomic Locations for IRAK3 Gene
chr12:66,188,879-66,254,622
(GRCh38/hg38)
Size:
65,744 bases
Orientation:
Plus strand
chr12:66,582,659-66,648,402
(GRCh37/hg19)
Size:
65,744 bases
Orientation:
Plus strand

Genomic View for IRAK3 Gene

Genes around IRAK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRAK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRAK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRAK3 Gene

Proteins for IRAK3 Gene

  • Protein details for IRAK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y616-IRAK3_HUMAN
    Recommended name:
    Interleukin-1 receptor-associated kinase 3
    Protein Accession:
    Q9Y616
    Secondary Accessions:
    • B4DQ57

    Protein attributes for IRAK3 Gene

    Size:
    596 amino acids
    Molecular mass:
    67767 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for IRAK3 Gene

    Alternative splice isoforms for IRAK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRAK3 Gene

Post-translational modifications for IRAK3 Gene

  • Ubiquitination at Lys379
  • Modification sites at PhosphoSitePlus

Other Protein References for IRAK3 Gene

Antibody Products

  • Abcam antibodies for IRAK3
  • Santa Cruz Biotechnology (SCBT) Antibodies for IRAK3

No data available for DME Specific Peptides for IRAK3 Gene

Domains & Families for IRAK3 Gene

Gene Families for IRAK3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for IRAK3 Gene

Suggested Antigen Peptide Sequences for IRAK3 Gene

GenScript: Design optimal peptide antigens:
  • IL-1 receptor-associated kinase M (IRAK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y616

UniProtKB/Swiss-Prot:

IRAK3_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily.
genes like me logo Genes that share domains with IRAK3: view

Function for IRAK3 Gene

Molecular function for IRAK3 Gene

UniProtKB/Swiss-Prot Function:
Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.

Enzyme Numbers (IUBMB) for IRAK3 Gene

Phenotypes From GWAS Catalog for IRAK3 Gene

Gene Ontology (GO) - Molecular Function for IRAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 10383454
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,IDA 10383454
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IDA 10383454
genes like me logo Genes that share ontologies with IRAK3: view
genes like me logo Genes that share phenotypes with IRAK3: view

Animal Models for IRAK3 Gene

MGI Knock Outs for IRAK3:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for IRAK3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRAK3 Gene

Localization for IRAK3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRAK3 gene
Compartment Confidence
plasma membrane 4
nucleus 4
extracellular 2
cytosol 1
mitochondrion 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IRAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 17379480
GO:0005737 cytoplasm IBA,IDA 17379480
GO:0005886 plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with IRAK3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for IRAK3 Gene

Pathways & Interactions for IRAK3 Gene

PathCards logo

SuperPathways for IRAK3 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll Comparative Pathway
.61
.61
.39
.34
3 TRAF Pathway
.42
.41
.33
4 IL-1 signaling pathway
5 NF-KappaB Family Pathway
.72
.72
genes like me logo Genes that share pathways with IRAK3: view

Pathways by source for IRAK3 Gene

2 GeneGo (Thomson Reuters) pathways for IRAK3 Gene
12 Qiagen pathways for IRAK3 Gene
  • 14-3-3 Induced Apoptosis
  • IL-1 Pathway
  • iNOS Signaling
  • MAPK Signaling
  • NF-KappaB (p50-p65) Pathway
1 Cell Signaling Technology pathway for IRAK3 Gene

SIGNOR curated interactions for IRAK3 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IRAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001960 negative regulation of cytokine-mediated signaling pathway IC 12150927
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS 10383454
GO:0006468 protein phosphorylation IDA 10383454
GO:0007165 signal transduction IEA --
GO:0009615 response to virus IC 12150927
genes like me logo Genes that share ontologies with IRAK3: view

Drugs & Compounds for IRAK3 Gene

(6) Drugs for IRAK3 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
IRAK inhibitor 2 Pharma 0
IRAK inhibitor 3 Pharma 0

(2) Additional Compounds for IRAK3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(3) ApexBio Compounds for IRAK3 Gene

Compound Action Cas Number
IRAK inhibitor 2 928333-30-6
IRAK inhibitor 3 1012343-93-9
IRAK inhibitor 4 IRAK inhibitor 1012104-68-5
genes like me logo Genes that share compounds with IRAK3: view

Transcripts for IRAK3 Gene

mRNA/cDNA for IRAK3 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for IRAK3

Alternative Splicing Database (ASD) splice patterns (SP) for IRAK3 Gene

No ASD Table

Relevant External Links for IRAK3 Gene

GeneLoc Exon Structure for
IRAK3
ECgene alternative splicing isoforms for
IRAK3

Expression for IRAK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRAK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRAK3 Gene

This gene is overexpressed in Whole Blood (x16.2).

Protein differential expression in normal tissues from HIPED for IRAK3 Gene

This gene is overexpressed in Lung (46.3), Bone marrow mesenchymal stem cell (12.7), and Monocytes (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IRAK3 Gene



Protein tissue co-expression partners for IRAK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of IRAK3 Gene:

IRAK3

SOURCE GeneReport for Unigene cluster for IRAK3 Gene:

Hs.369265

mRNA Expression by UniProt/SwissProt for IRAK3 Gene:

Q9Y616-IRAK3_HUMAN
Tissue specificity: Expressed predominantly in peripheral blood lymphocytes.

Evidence on tissue expression from TISSUES for IRAK3 Gene

  • Blood(4.4)
  • Spleen(2.6)
  • Lung(2.4)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with IRAK3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IRAK3 Gene

Orthologs for IRAK3 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRAK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRAK3 33 32
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IRAK3 33 32
  • 87.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IRAK3 32
  • 85.16 (n)
IRAKM 33
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irak3 32
  • 80.48 (n)
mouse
(Mus musculus)
Mammalia Irak3 17 33 32
  • 79.64 (n)
oppossum
(Monodelphis domestica)
Mammalia IRAK3 33
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IRAK3 33
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii irak3 33 32
  • 54.54 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pll 33
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pik-1 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 34 (a)
OneToMany
Species where no ortholog for IRAK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for IRAK3 Gene

ENSEMBL:
Gene Tree for IRAK3 (if available)
TreeFam:
Gene Tree for IRAK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRAK3: view image

Paralogs for IRAK3 Gene

Paralogs for IRAK3 Gene

genes like me logo Genes that share paralogs with IRAK3: view

Variants for IRAK3 Gene

Sequence variations from dbSNP and Humsavar for IRAK3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs121912630 risk-factor, Asthma-related traits, susceptibility to, 5 66,203,804(+) G/A coding_sequence_variant, intron_variant, stop_gained
rs150116809 risk-factor, Asthma-related traits, susceptibility to, 5 66,209,521(+) G/A/T splice_donor_variant
rs776951445 uncertain-significance, Hirschsprung disease 1 66,247,841(+) C/ coding_sequence_variant, frameshift
rs367600113 likely-pathogenic, not provided 66,228,282(+) C/T coding_sequence_variant, stop_gained
rs764674154 likely-pathogenic, not provided 66,245,166(+) A/ATGA coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for IRAK3 Gene

Variant ID Type Subtype PubMed ID
esv29230 CNV loss 19812545
esv3629799 CNV loss 21293372
esv3892211 CNV loss 25118596
esv7862 CNV gain 19470904
nsv976637 CNV duplication 23825009

Variation tolerance for IRAK3 Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRAK3 Gene

Human Gene Mutation Database (HGMD)
IRAK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRAK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRAK3 Gene

Disorders for IRAK3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IRAK3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
asthma-related traits 5
  • asthma-related traits, susceptibility to, 5
pleuropneumonia
asthma
  • asthma, susceptibility to
post-cardiac arrest syndrome
  • post cardiac syndrome
melioidosis
  • melioidosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search IRAK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRAK3_HUMAN
  • Asthma-related traits 5 (ASRT5) [MIM:611064]: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. {ECO:0000269 PubMed:17503328}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for IRAK3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IRAK3: view

No data available for Genatlas for IRAK3 Gene

Publications for IRAK3 Gene

  1. No evidence of an association between polymorphisms in the IRAK-M gene and atopic dermatitis in a German cohort. (PMID: 19013233) Beygo J … Hoffjan S (Molecular and cellular probes 2009) 3 23 43 56
  2. Association of interacting genes in the toll-like receptor signaling pathway and the antibody response to pertussis vaccination. (PMID: 18987746) Kimman TG … Kerkhof M (PloS one 2008) 3 23 43 56
  3. IRAK-M is involved in the pathogenesis of early-onset persistent asthma. (PMID: 17503328) Balaci L … Pilia G (American journal of human genetics 2007) 3 4 43 56
  4. Association of interleukin-1 receptor-associated kinase M (IRAK-M) and inflammatory bowel diseases. (PMID: 17558906) Weersma RK … Dijkstra G (Scandinavian journal of gastroenterology 2007) 3 23 43 56
  5. IRAK-M is a novel member of the Pelle/interleukin-1 receptor-associated kinase (IRAK) family. (PMID: 10383454) Wesche H … Cao Z (The Journal of biological chemistry 1999) 2 3 4 56

Products for IRAK3 Gene

Sources for IRAK3 Gene