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FLASH GENE
Symbol IRAK1 contributors: mct/ - updated : 13-07-2018
HGNC name interleukin-1 receptor-associated kinase 1
HGNC id 6112
Location Xq28      Physical location : 153.275.956 - 153.285.342
Synonym name Pelle (Drosophila) homolog
Synonym symbol(s) IRAK, PELLE, IRA1
EC.number 2.7.11.1
DNA
TYPE functioning gene
STRUCTURE 9.39 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a MGC45419 Xq28 Similar to calcium/calmodulin-dependent protein kinase 1, beta SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 BCAP31 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 splicing 3589 76.4 712 - 2007 16690127
14 splicing 3499 73.3 682 widely 2007 16690127
lacking an in-frame segment in the CDS compared to variant 1
13 splicing 3352 67 633 - 2007 16690127
lacking an in-frame exon compared to variant 1
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 salivary gland   moderately
 stomach   moderately
Endocrinepancreas   highly
Reproductivefemale systemuteruscervix predominantly
 female systemplacenta  moderately
 female systembreastmammary gland moderately
 female systemovary  moderately
 male systemprostate  moderately
Respiratorylung   moderately
Skin/Tegumentskin   highly
Urinarykidney   moderately
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Connectivebone  moderately
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscular   moderately
cell lineage
cell lines
fluid/secretion moderately in lymph
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal death domain including a threonine residue (Thr66) critical for dimerization and function
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Irak1 (81 pc)
    homolog to murine Irak1 (80.8 pc)
    Homologene
    FAMILY
  • protein kinase superfamily
  • Ser/Thr family of protein kinase
  • PELLE subfamily
  • CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a serine/threonine kinase involved in the IL1 pathway, partially involved in IL1-induced upregulation of the transcription factor NF-kappa B
  • playing an essential role in the activation of NFKB and JNK in response to IL18
  • its activation is a key event in the transmission of signals from Toll-like receptors (TLRs)
  • initiate a cascade of signaling events eventually leading to induction of inflammatory target gene expression
  • serine/threonine protein kinase involved in the signaling cascade of the Toll/IL-1 receptor (TIR) family
  • being an essential regulator for lipopolysaccharide-induced interleukin-10 gene expression
  • pivotal regulator of the NFKB pathway
  • having a kinase activity redundant with that of IRAK4
  • MYD88 and the associated kinases IRAK1 and IRAK4 are essential for activated B-cell-like (ABC) subtype of diffuse large B-cell lymphoma (DLBCL) survival
  • MYD88 and IRAK1 are required to maintain the viability of ABC DLBCL cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    bacterial LPS proapoptotic complex pathways diverging downstream IRAK1 towards to NF-kappa BL activation or apoptosis
    a component
  • forming a complex with IL1R1 after induction by IL1 through its association with IL1RAP
  • subsequently interacting with TRAF6 required for IL-1 mediated NFKB activation (see symbols)
  • INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • Mg2+
  • ATP
  • protein
  • MYD88, TRAF6, IKK complex (to mediating IL1 beta signal transduction)
  • binding to the IL-1 type I receptor following IL-1 engagement
  • activating PELI1, PELI2, PELI3
  • TIRAP is a substrate for IRAK1 and IRAK4 and is likely an important control mechanism in TLR2 and TLR4 signal transduction
  • IRAK1 catalytic activity is not triggered by a covalent modification but by an allosteric mechanism induced by its interaction with IRAK4
  • cell & other
    REGULATION
    inhibited by IRAK4 (induce the degradation of IRAK1 in a proteosome-independent manner)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    aberrantly expressed in the nucleus of the peripheral blood mononuclear cells from atherosclerosis patients
    Susceptibility to systemic lupus erythematosus
    Variant & Polymorphism other 4 SNP haplotype (GGGG) being strongly associated with systemic lupus erythematosus, raising the possibility that the gender difference in SLE may in part be attributed to sex chromosome genes
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS