ENSG00000198001


Homo sapiens

Features
Gene ID: ENSG00000198001
  
Biological name :IRAK4
  
Synonyms : interleukin 1 receptor associated kinase 4 / IRAK4 / Q9NWZ3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q12
Gene start: 43758944
Gene end: 43789543
  
Corresponding Affymetrix probe sets: 219618_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449859
Ensembl peptide - ENSP00000449848
Ensembl peptide - ENSP00000479889
Ensembl peptide - ENSP00000390327
Ensembl peptide - ENSP00000390651
Ensembl peptide - ENSP00000408734
Ensembl peptide - ENSP00000446490
Ensembl peptide - ENSP00000446571
Ensembl peptide - ENSP00000448197
Ensembl peptide - ENSP00000449317
Ensembl peptide - ENSP00000449553
Ensembl peptide - ENSP00000449693
NCBI entrez gene - 51135     See in Manteia.
OMIM - 606883
RefSeq - XM_017019391
RefSeq - NM_016123
RefSeq - XM_005268943
RefSeq - XM_005268944
RefSeq - XM_005268945
RefSeq - XM_005268947
RefSeq - XM_005268948
RefSeq - XM_005268949
RefSeq - XM_006719438
RefSeq - XM_006719439
RefSeq - XM_006719440
RefSeq - XM_006719441
RefSeq - XM_006719442
RefSeq - XM_006719443
RefSeq - XM_011538431
RefSeq - XM_011538432
RefSeq - XM_011538433
RefSeq - XM_017019390
RefSeq - NM_001114182
RefSeq - NM_001145256
RefSeq - NM_001145257
RefSeq - NM_001145258
RefSeq - NM_001351339
RefSeq - NM_001351340
RefSeq - NM_001351342
RefSeq - NM_001351345
RefSeq Peptide - NP_001338267
RefSeq Peptide - NP_001338274
RefSeq Peptide - NP_057207
RefSeq Peptide - NP_001107654
RefSeq Peptide - NP_001138728
RefSeq Peptide - NP_001138729
RefSeq Peptide - NP_001138730
RefSeq Peptide - NP_001338268
RefSeq Peptide - NP_001338269
RefSeq Peptide - NP_001338270
RefSeq Peptide - NP_001338271
swissprot - F8VVZ1
swissprot - F8VW24
swissprot - A0A0R4J2F4
swissprot - F8VR40
swissprot - Q69FE3
swissprot - Q9NWZ3
Ensembl - ENSG00000198001
  
Related genetic diseases (OMIM): 607676 - IRAK4 deficiency, 607676
  610799 - Invasive pneumococcal disease, recurrent isolated, 1, 610799
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 IRAK4ENSDARG00000100534Danio rerio
 IRAK4ENSGALG00000009586Gallus gallus
 Irak4ENSMUSG00000059883Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IRAK1 / P51617 / interleukin 1 receptor associated kinase 1ENSG0000018421630
IRAK3 / Q9Y616 / interleukin 1 receptor associated kinase 3ENSG0000009037627
IRAK2 / O43187 / interleukin 1 receptor associated kinase 2ENSG0000013407025


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR011009  Protein kinase-like domain superfamily
 IPR011029  Death-like domain superfamily
 IPR017428  Interleukin-1 receptor-associated kinase 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001816 cytokine production IEA
 biological_processGO:0002224 toll-like receptor signaling pathway TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002446 neutrophil mediated immunity IMP
 biological_processGO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007254 JNK cascade IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway IEA
 biological_processGO:0034162 toll-like receptor 9 signaling pathway TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IBA
 biological_processGO:0070498 interleukin-1-mediated signaling pathway IBA
 biological_processGO:1990266 neutrophil migration IMP
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0004672 protein kinase activity EXP
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0005149 interleukin-1 receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
PIP3 activates AKT signaling
MyD88:Mal cascade initiated on plasma membrane
IRAK4 deficiency (TLR5)
IRAK4 deficiency (TLR2/4)
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Interleukin-1 signaling
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 dependent cascade initiated on endosome
MyD88 cascade initiated on plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001875 Neutropenia 
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 HP:0002721 Immunodeficiency 
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 HP:0005366 Increased susceptibility to streptococcus pneumoniae infections 
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 HP:0007499 Recurrent staphylococcal infections 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000196083 IL1RAP / Q9NPH3 / interleukin 1 receptor accessory protein  / complex / reaction
 ENSG00000101916 TLR8 / Q9NR97 / toll like receptor 8  / complex / reaction
 ENSG00000115602 IL1RL1 / Q01638 / interleukin 1 receptor like 1  / complex
 ENSG00000125538 IL1B / P01584 / interleukin 1 beta  / complex / reaction
 ENSG00000134070 IRAK2 / O43187 / interleukin 1 receptor associated kinase 2  / complex / reaction
 ENSG00000137462 TLR2 / O60603 / toll like receptor 2  / complex / reaction
 ENSG00000115008 IL1A / P01583 / interleukin 1 alpha  / complex / reaction
 ENSG00000174123 TLR10 / Q9BXR5 / toll like receptor 10  / complex / reaction
 ENSG00000139946 PELI2 / Q9HAT8 / pellino E3 ubiquitin protein ligase family member 2  / complex / reaction
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / complex / reaction
 ENSG00000135218 CD36 / P16671 / CD36 molecule  / complex / reaction
 ENSG00000174125 TLR1 / Q15399 / toll like receptor 1  / complex / reaction
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / complex / reaction
 ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase  / complex / reaction
 ENSG00000244687 Q13404 / UBE2V1 / ubiquitin conjugating enzyme E2 V1  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000174516 PELI3 / Q8N2H9 / pellino E3 ubiquitin protein ligase family member 3  / complex / reaction
 ENSG00000185507 IRF7 / Q92985 / interferon regulatory factor 7  / reaction / complex
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000197329 PELI1 / Q96FA3 / pellino E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000239732 TLR9 / Q9NR96 / toll like receptor 9  / complex / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000184216 IRAK1 / P51617 / interleukin 1 receptor associated kinase 1  / complex / reaction
 ENSG00000187554 TLR5 / O60602 / toll like receptor 5  / complex / reaction
 ENSG00000174130 TLR6 / Q9Y2C9 / toll like receptor 6  / complex / reaction
 ENSG00000150455 TIRAP / P58753 / TIR domain containing adaptor protein  / complex / reaction
 ENSG00000196664 TLR7 / Q9NYK1 / toll like receptor 7  / complex / reaction
 ENSG00000137033 IL33 / O95760 / interleukin 33  / complex
 ENSG00000172936 MYD88 / Q99836 / myeloid differentiation primary response 88  / complex / reaction
 ENSG00000115594 IL1R1 / P14778 / interleukin 1 receptor type 1  / complex / reaction
 ENSG00000078902 Q9H0E2 / TOLLIP / toll interacting protein  / complex / reaction
 ENSG00000198001 IRAK4 / Q9NWZ3 / interleukin 1 receptor associated kinase 4  / complex / reaction






 

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