Gene Gene information from NCBI Gene database.
Entrez ID 3654
Gene name Interleukin 1 receptor associated kinase 1
Gene symbol IRAK1
Synonyms (NCBI Gene)
IRAKpelle
Chromosome X
Chromosome location Xq28
Summary 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
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT000712 hsa-miR-146a-5p Western blotNorthern blot 18504431
MIRT000712 hsa-miR-146a-5p Luciferase reporter assayWestern blot 20061417
MIRT000712 hsa-miR-146a-5p qRT-PCR 18759964
MIRT000712 hsa-miR-146a-5p qRT-PCRWestern blotImmunofluorescence 19918258
MIRT005395 hsa-miR-146b-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 16885212
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001959 Process Regulation of cytokine-mediated signaling pathway IMP 10383454
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0002376 Process Immune system process IEA
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS 10383454
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300283 6112 ENSG00000184216
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51617
Protein name Interleukin-1 receptor-associated kinase 1 (IRAK-1) (EC 2.7.11.1)
Protein function Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling
PDB 6BFN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 27 103 Death domain Domain
PF00069 Pkinase 212 517 Protein kinase domain Domain
Tissue specificity 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:0000269|PubMed:11397809}.
Sequence
MAGGPGPGEPAAPGAQHFLYEVPPWVMCRFYKVMDALEPADWCQFAALIVRDQTELRLCE
RSGQRTASVLWPWINRNARVADLVHILTHLQLLRARDIITAWH
PPAPLPSPGTTAPRPSS
IPAPAEAEAWSPRKLPSSASTFLSPAFPGSQTHSGPELGLVPSPASLWPPPPSPAPSSTK
PGPESSVSLLQGARPFPFCWPLCEISRGTHNFSEELKIGEGGFGCVYRAVMRNTVYAVKR
LKENADLEWTAVKQSFLTEVEQLSRFRHPNIVDFAGYCAQNGFYCLVYGFLPNGSLEDRL
HCQTQACPPLSWPQRLDILLGTARAIQFLHQDSPSLIHGDIKSSNVLLDERLTPKLGDFG
LARFSRFAGSSPSQSSMVARTQTVRGTLAYLPEEYIKTGRLAVDTDTFSFGVVVLETLAG
QRAVKTHGARTKYLKDLVEEEAEEAGVALRSTQSTLQAGLAADAWAAPIAMQIYKKHLDP
RPGPCPPELGLGLGQLACCCLHRRAKRRPPMTQVYER
LEKLQAVVAGVPGHSEAASCIPP
SPQENSYVSSTGRAHSGAAPWQPLAAPSGASAQAAEQLQRGPNQPVESDESLGGLSAALR
SWHLTPSCPLDPAPLREAGCPQGDTAGESSWGSGPGSRPTAVEGLALGSSASSSSEPPQI
IINPARQKMVQKLALYEDGALDSLQLLSSSSLPGLGLEQDRQGPEESDEFQS
Sequence length 712
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 30401751
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20937840, 23300433 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 20500689
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anoxia-Ischemia, Brain Anorexia CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Anoxia-Ischemia, Cerebral Anorexia CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Anoxic-Ischemic Encephalopathy Anoxic-Ischemic Encephalopathy CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 22288586 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 16169330, 17382928, 18691762, 27270491
★☆☆☆☆
Found in Text Mining only