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

Gene ID: 51135, updated on 25-Apr-2020

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
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; 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

Genomic context

See IRAK4 in Genome Data Viewer
Location:
12q12
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (43758909..43789543)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44152747..44183346)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 Neighboring gene pseudouridine synthase 7 like Neighboring gene transmembrane protein 117 Neighboring gene twinfilin actin binding protein 1 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 due to interleukin-1 receptor-associated kinase-4 deficiency
MedGen: C1843256 OMIM: 607676 GeneReviews: Not available
Compare labs
Invasive pneumococcal disease, recurrent isolated, 1
MedGen: C1835828 OMIM: 610799 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-1 receptor binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
JNK cascade IEA
Inferred from Electronic Annotation
more info
 
MyD88-dependent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cytokine production IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil mediated immunity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
toll-like receptor 9 signaling pathway TAS
Traceable Author Statement
more info
 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_005269006.1
XP_006719501.1
XP_006719503.1
XP_006719505.1
XP_011536733.1
XP_011536735.1
XP_016874879.1
XP_024304776.1

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_009892.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001114182.2NP_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
    Q9NWZ3
    UniProtKB/TrEMBL
    B4E359, 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_001145256.1NP_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/Swiss-Prot
    Q9NWZ3
    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_001145257.1NP_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, AK304583
    Consensus CDS
    CCDS44862.1
    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    B4E359
    Related
    ENSP00000390327.1, ENST00000431837.5
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  4. NM_001145258.1NP_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/Swiss-Prot
    Q9NWZ3
    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_001351338.1NP_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
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  6. NM_001351339.1NP_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
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  7. NM_001351340.1NP_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
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  8. NM_001351341.1NP_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
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  9. NM_001351342.1NP_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
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  10. NM_001351343.1NP_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_001351344.1NP_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_001351345.1NP_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
    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
    Q9NWZ3
    UniProtKB/TrEMBL
    B2RAP9, B4E359, Q69FE3
    Related
    ENSP00000479889.2, ENST00000613694.4
    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: Homo sapiens Updated Annotation Release 109.

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
    43758909..43789543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019390.2XP_016874879.1  interleukin-1 receptor-associated kinase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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_024449008.1XP_024304776.1  interleukin-1 receptor-associated kinase 4 isoform X4

    Related
    ENSP00000390651.3, ENST00000448290.6
    Conserved Domains (2) summary
    cd08793
    Location:9106
    Death_IRAK4; Death domain of Interleukin-1 Receptor-Associated Kinase 4
    cl21453
    Location:170219
    PKc_like; Protein Kinases, catalytic domain
  3. XM_006719440.2XP_006719503.1  interleukin-1 receptor-associated kinase 4 isoform X3

    See identical proteins and their annotated locations for XP_006719503.1

    Conserved Domains (1) summary
    cl21453
    Location:12254
    PKc_like; Protein Kinases, catalytic domain
  4. XM_006719442.2XP_006719505.1  interleukin-1 receptor-associated kinase 4 isoform X3

    See identical proteins and their annotated locations for XP_006719505.1

    Conserved Domains (1) summary
    cl21453
    Location:12254
    PKc_like; Protein Kinases, catalytic domain
  5. XM_005268943.3XP_005269000.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_005269000.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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_005268949.2XP_005269006.1  interleukin-1 receptor-associated kinase 4 isoform X2

    See identical proteins and their annotated locations for XP_005269006.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    Conserved Domains (1) summary
    cd14158
    Location:46333
    STKc_IRAK4; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 4
  7. XM_006719438.3XP_006719501.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_006719501.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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
  8. XM_005268945.4XP_005269002.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_005269002.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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
  9. XM_011538431.2XP_011536733.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_011536733.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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
  10. XM_005268944.4XP_005269001.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_005269001.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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
  11. XM_011538433.2XP_011536735.1  interleukin-1 receptor-associated kinase 4 isoform X1

    See identical proteins and their annotated locations for XP_011536735.1

    UniProtKB/Swiss-Prot
    Q9NWZ3
    UniProtKB/TrEMBL
    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
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