• Gene id: 3654

Gene Summary

• Gene Symbol: IRAK1   Gene   UCSC   Ensembl
• Aliases: IRAK, pelle
• Gene name: interleukin 1 receptor associated kinase 1
• Alternate names: interleukin-1 receptor-associated kinase 1, IRAK-1, Pelle homolog,
• Gene location: Xq28 (154019983: 154010506)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation
• OMIM: 300283

SNPs

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: P51617  
  • Name: Interleukin 1 receptor associated kinase 1 (IRAK 1) (EC 2.7.11.1)
  • Length: 712  
  • Mass: 76537
  • Tissue specificity: Isoform 1 and isoform 2 are ubiquitously expressed in all tissues examined, with isoform 1 being more strongly expressed than isoform 2. {ECO
• Sequence:

  MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCERSGQRTASVLWPWIN
  RNARVADLVHILTHLQLLRARDIITAWHPPAPLPSPGTTAPRPSSIPAPAEAEAWSPRKLPSSASTFLSPAFPGS
  QTHSGPELGLVPSPASLWPPPPSPAPSSTKPGPESSVSLLQGARPFPFCWPLCEISRGTHNFSEELKIGEGGFGC
  VYRAVMRNTVYAVKRLKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
  HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFGLARFSRFAGSSPSQS
  SMVARTQTVRGTLAYLPEEYIKTGRLAVDTDTFSFGVVVLETLAGQRAVKTHGARTKYLKDLVEEEAEEAGVALR
  STQSTLQAGLAADAWAAPIAMQIYKKHLDPRPGPCPPELGLGLGQLACCCLHRRAKRRPPMTQVYERLEKLQAVV
  AGVPGHSEAASCIPPSPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQRGPNQPVESDESLGGLSAALR
  SWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQIIINPARQKMVQKLAL
  YEDGALDSLQLLSSSSLPGLGLEQDRQGPEESDEFQS

• Structural information:
  • Protein Domains: (27..10-)
    (/note="Death-)
    (212..52-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011029  IPR000488  IPR035533  IPR035536  IPR011009   IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • CDD: cd08794
  • PDB: 6BFN
  • PDBsum: 6BFN
  • DIP: 397
  • STRING: ENSP00000358997
• Other Databases: GeneCards:  IRAK1  Malacards:  IRAK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007250	activation of NF-kappaB-inducing kinase activity	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:1904996	positive regulation of leukocyte adhesion to vascular endothelial cell	IMP	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0070498	interleukin-1-mediated signaling pathway	IEA	biological process
GO:0004704	NF-kappaB-inducing kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0071222	cellular response to lipopolysaccharide	IBA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0043406	positive regulation of MAP kinase activity	IBA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0070498	interleukin-1-mediated signaling pathway	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0034142	toll-like receptor 4 signaling pathway	IBA	biological process
GO:0034134	toll-like receptor 2 signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0016301	kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0034162	toll-like receptor 9 signaling pathway	TAS	biological process
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	TAS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0070423	nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007254	JNK cascade	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0034605	cellular response to heat	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0032481	positive regulation of type I interferon production	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0001959	regulation of cytokine-mediated signaling pathway	IMP	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0070555	response to interleukin-1	IMP	biological process
GO:0060337	type I interferon signaling pathway	IMP	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0032496	response to lipopolysaccharide	IMP	biological process
GO:0034134	toll-like receptor 2 signaling pathway	IMP	biological process
GO:0070498	interleukin-1-mediated signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005811	lipid droplet	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04010	MAPK signaling pathway
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05152	Tuberculosis
hsa05161	Hepatitis B
hsa05135	Yersinia infection
hsa04722	Neurotrophin signaling pathway
hsa05162	Measles
hsa04064	NF-kappa B signaling pathway
hsa04620	Toll-like receptor signaling pathway
hsa05145	Toxoplasmosis
hsa05142	Chagas disease
hsa05133	Pertussis
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Diffuse scleroderma	PMID:21898345
Squamous cell carcinoma	PMID:24302991
Ankylosing spondylitis	PMID:20500689
Psoriasis	PMID:23018031
Psoriatic arthritis	PMID:20500689
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881