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    IRAK4 interleukin 1 receptor associated kinase 4 [ Homo sapiens (human) ]

    Gene ID: 51135, updated on 25-Dec-2023

    Summary

    Official Symbol
    IRAK4provided by HGNC
    Official Full Name
    interleukin 1 receptor associated kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:17967
    See related
    Ensembl:ENSG00000198001 MIM:606883; AllianceGenome:HGNC:17967
    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
    IPD1; IMD67; REN64; IRAK-4; NY-REN-64
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.4), appendix (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRAK4 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43758951..43789541)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43717649..43748266)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44152754..44183344)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:44079381-44080176 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene pseudouridine synthase 7 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4372 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44230125-44230357 Neighboring gene transmembrane protein 117 Neighboring gene MPRA-validated peak1704 silencer Neighboring gene twinfilin actin binding protein 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:44293209-44293937 Neighboring gene MPRA-validated peak1705 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:44373209-44373840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6220 Neighboring gene zinc finger protein 75B, pseudogene

    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
    Immunodeficiency 67
    MedGen: C1843256 OMIM: 607676 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables interleukin-1 receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Toll signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-1-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-1-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interleukin-33-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neutrophil mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in toll-like receptor 4 signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in toll-like receptor 9 signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extrinsic component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-1 receptor-associated kinase 4
    Names
    renal carcinoma antigen NY-REN-64
    NP_001107654.1
    NP_001138728.1
    NP_001138729.1
    NP_001138730.1
    NP_001338267.1
    NP_001338268.1
    NP_001338269.1
    NP_001338270.1
    NP_001338271.1
    NP_001338272.1
    NP_001338273.1
    NP_001338274.1
    NP_057207.2
    XP_005269000.1
    XP_005269001.1
    XP_005269002.1
    XP_006719501.1
    XP_011536733.1
    XP_016874879.1
    XP_054228149.1
    XP_054228150.1
    XP_054228151.1
    XP_054228152.1
    XP_054228153.1
    XP_054228154.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009892.1 RefSeqGene

      Range
      5001..35600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_75

    mRNA and Protein(s)

    1. NM_001114182.3NP_001107654.1  interleukin-1 receptor-associated kinase 4 isoform a

      See identical proteins and their annotated locations for NP_001107654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 13 all encode the same isoform (a).
      Source sequence(s)
      AC093012, AI126481, AK304583, AY340963
      Consensus CDS
      CCDS8744.1
      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Related
      ENSP00000446490.1, ENST00000551736.5
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    2. NM_001145256.2NP_001138728.1  interleukin-1 receptor-associated kinase 4 isoform b

      See identical proteins and their annotated locations for NP_001138728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses a downstream start codon, compared to variant 1. The resulting isoform (b), also known as the short form, has a shorter N-terminus, compared to isoform a. Variants 3-10 all encode the same isoform (b).
      Source sequence(s)
      AC093012, AI126481, AK304583, AY340965
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    3. NM_001145257.2NP_001138729.1  interleukin-1 receptor-associated kinase 4 isoform b

      See identical proteins and their annotated locations for NP_001138729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (b), also known as the short form, has a shorter N-terminus, compared to isoform a. Variants 3-10 all encode the same isoform (b).
      Source sequence(s)
      AC093012, AI126481, AK299944
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    4. NM_001145258.2NP_001138730.1  interleukin-1 receptor-associated kinase 4 isoform b

      See identical proteins and their annotated locations for NP_001138730.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (b), also known as the short form, has a shorter N-terminus, compared to isoform a. Variants 3-10 all encode the same isoform (b).
      Source sequence(s)
      AC093012, AI126481, AK304583
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Related
      ENSP00000408734.2, ENST00000440781.6
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    5. NM_001351338.2NP_001338267.1  interleukin-1 receptor-associated kinase 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 3-5 and 7-10, encodes isoform b.
      Source sequence(s)
      AC093012, AK027301
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    6. NM_001351339.2NP_001338268.1  interleukin-1 receptor-associated kinase 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 3-6 and 8-10, encodes isoform b.
      Source sequence(s)
      AC093012, AY340967
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    7. NM_001351340.2NP_001338269.1  interleukin-1 receptor-associated kinase 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 3-7, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC093012
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    8. NM_001351341.2NP_001338270.1  interleukin-1 receptor-associated kinase 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 3-8 and 10, encodes isoform b.
      Source sequence(s)
      AC093012
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    9. NM_001351342.2NP_001338271.1  interleukin-1 receptor-associated kinase 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3-9, encodes isoform b.
      Source sequence(s)
      AC093012
      Consensus CDS
      CCDS44862.1
      UniProtKB/TrEMBL
      B4E359
      Conserved Domains (1) summary
      cd14158
      Location:46333
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    10. NM_001351343.2NP_001338272.1  interleukin-1 receptor-associated kinase 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes isoform c.
      Source sequence(s)
      AC093012
      Conserved Domains (1) summary
      cl21453
      Location:12254
      PKc_like; Protein Kinases, catalytic domain
    11. NM_001351344.2NP_001338273.1  interleukin-1 receptor-associated kinase 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes isoform c.
      Source sequence(s)
      AC093012
      Conserved Domains (1) summary
      cl21453
      Location:12254
      PKc_like; Protein Kinases, catalytic domain
    12. NM_001351345.2NP_001338274.1  interleukin-1 receptor-associated kinase 4 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 1 and 2, encodes isoform a.
      Source sequence(s)
      AC093012
      Consensus CDS
      CCDS8744.1
      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    13. NM_016123.4NP_057207.2  interleukin-1 receptor-associated kinase 4 isoform a

      See identical proteins and their annotated locations for NP_057207.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 13 all encode the same isoform (a).
      Source sequence(s)
      AC093012, AI126481, AK304583, AK314288, BC013316
      Consensus CDS
      CCDS8744.1
      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Related
      ENSP00000479889.3, ENST00000613694.5
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      43758951..43789541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538431.3XP_011536733.1  interleukin-1 receptor-associated kinase 4 isoform X1

      See identical proteins and their annotated locations for XP_011536733.1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    2. XM_006719438.4XP_006719501.1  interleukin-1 receptor-associated kinase 4 isoform X1

      See identical proteins and their annotated locations for XP_006719501.1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    3. XM_005268945.5XP_005269002.1  interleukin-1 receptor-associated kinase 4 isoform X1

      See identical proteins and their annotated locations for XP_005269002.1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    4. XM_005268943.4XP_005269000.1  interleukin-1 receptor-associated kinase 4 isoform X1

      See identical proteins and their annotated locations for XP_005269000.1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    5. XM_017019390.3XP_016874879.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
    6. XM_005268944.5XP_005269001.1  interleukin-1 receptor-associated kinase 4 isoform X1

      See identical proteins and their annotated locations for XP_005269001.1

      UniProtKB/Swiss-Prot
      Q69FE1, Q8TDF7, Q9NWZ3, Q9Y589
      UniProtKB/TrEMBL
      B2RAP9, Q69FE3
      Conserved Domains (2) summary
      cd08793
      Location:9106
      Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
      cd14158
      Location:170457
      STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      43717649..43748266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372174.1XP_054228149.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9
    2. XM_054372177.1XP_054228152.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9
    3. XM_054372176.1XP_054228151.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9
    4. XM_054372178.1XP_054228153.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9
    5. XM_054372175.1XP_054228150.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9
    6. XM_054372179.1XP_054228154.1  interleukin-1 receptor-associated kinase 4 isoform X1

      UniProtKB/TrEMBL
      B2RAP9