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IRAK4 (interleukin 1 receptor associated kinase 4)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51135
Gene nameGene Name - the full gene name approved by the HGNC.
Interleukin 1 receptor associated kinase 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IRAK4
SynonymsGene synonyms aliases
IMD67, IPD1, IRAK-4, NY-REN-64, REN64
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs114951157 C>T Pathogenic Coding sequence variant, stop gained, synonymous variant
rs121908002 C>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs377584435 C>T Likely-pathogenic, pathogenic Intron variant, missense variant, coding sequence variant, 5 prime UTR variant
rs758539498 G>A,T Pathogenic Genic downstream transcript variant, intron variant
rs944235493 A>G Pathogenic Genic downstream transcript variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT024734 hsa-miR-215-5p Microarray 19074876
MIRT026168 hsa-miR-192-5p Microarray 19074876
MIRT438881 hsa-miR-212-3p Luciferase reporter assay 23264652
MIRT438882 hsa-miR-132-3p Luciferase reporter assay 23264652
MIRT508603 hsa-miR-6716-5p PAR-CLIP 23446348
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0002224 Process Toll-like receptor signaling pathway TAS 21269878
GO:0002446 Process Neutrophil mediated immunity IMP 19663824
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS 21269878
GO:0004672 Function Protein kinase activity EXP 11960013
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
UniProt ID Q9NWZ3
Protein name Interleukin-1 receptor-associated kinase 4 (IRAK-4) (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-64)
Protein function Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.
PDB 2NRU , 2NRY , 2O8Y , 2OIB , 2OIC , 2OID , 3MOP , 4RMZ , 4U97 , 4U9A , 4XS2 , 4Y73 , 4YO6 , 4YP8 , 4ZTL , 4ZTM , 4ZTN , 5K72 , 5K75 , 5K76 , 5K7G , 5K7I , 5KX7 , 5KX8 , 5T1S , 5T1T , 5UIQ , 5UIR , 5UIS , 5UIT , 5UIU , 5W84 , 5W85 , 6EG9 , 6EGA , 6EGD , 6EGE , 6EGF , 6F3D , 6F3E , 6F3G , 6F3I , 6LXY , 6MOM , 6N8G , 6O8U , 6O94 , 6O95 , 6O9D , 6RFI , 6RFJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr
187 → 454
Protein tyrosine and serine/threonine kinase
 Domain
Sequence 
MNKPITPSTYVRCLNVGLIRKLSDFIDPQEGWKKLAVAIKKPSGDDRYNQFHIRRFEALL
QTGKSPTSELLFDWGTTNCTVGDLVDLLIQNEFFAPASLLLPDAVPKTANTLPSKEAITV
QQKQMPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEVSDTRFHSFSFYELKNVTNNF
DERPISVGGNKMGEGGFGVVYKGYVNNTTVAVKKLAAMVDITTEELKQQFDQEIKVMAKC
QHENLVELLGFSSDGDDLCLVYVYMPNGSLLDRLSCLDGTPPLSWHMRCKIAQGAANGIN
FLHENHHIHRDIKSANILLDEAFTAKISDFGLARASEKFAQTVMTSRIVGTTAYMAPEAL
RGEITPKSDIYSFGVVLLEIITGLPAVDEHREPQLLLDIKEEIEDEEKTIEDYIDKKMND
ADSTSVEAMYSVASQCLHEKKNKRPDIKKVQQLLQEMTAS
Sequence length 460
Interactions View interactions

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