IRAK3 interleukin 1 receptor associated kinase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRAK3provided by HGNC
Official Full Name: interleukin 1 receptor associated kinase 3provided by HGNC
Primary source: HGNC:HGNC:17020
See related: Ensembl:ENSG00000090376 MIM:604459; AllianceGenome:HGNC:17020
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: ASRT5; IRAKM
Summary: This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression: Broad expression in bone marrow (RPKM 10.8), spleen (RPKM 8.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (66189214..66254622)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (66168706..66234159)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (66582994..66648402)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Methylation of Interleukin-1 receptor-associated kinase-3 and the risk of multiple sclerosis relapse/activity.
Title: Methylation of Interleukin-1 receptor-associated kinase-3 and the risk of multiple sclerosis relapse/activity.
Replenishing IRAK-M expression in retinal pigment epithelium attenuates outer retinal degeneration.
Title: Replenishing IRAK-M expression in retinal pigment epithelium attenuates outer retinal degeneration.
Importance of serum IRAK3 as a biochemical marker in relation to severity and neurological outcome of human severe traumatic brain injury: A prospective longitudinal cohort study.
Title: Importance of serum IRAK3 as a biochemical marker in relation to severity and neurological outcome of human severe traumatic brain injury: A prospective longitudinal cohort study.
IL-1 receptor-associated kinase-3 acts as an immune checkpoint in myeloid cells to limit cancer immunotherapy.
Title: IL-1 receptor-associated kinase-3 acts as an immune checkpoint in myeloid cells to limit cancer immunotherapy.
Mutations in the Vicinity of the IRAK3 Guanylate Cyclase Center Impact Its Subcellular Localization and Ability to Modulate Inflammatory Signaling in Immortalized Cell Lines.
Title: Mutations in the Vicinity of the IRAK3 Guanylate Cyclase Center Impact Its Subcellular Localization and Ability to Modulate Inflammatory Signaling in Immortalized Cell Lines.
IRAK-M has effects in regulation of lung epithelial inflammation.
Title: IRAK-M has effects in regulation of lung epithelial inflammation.
Changes in plasma IRAK-M in patients with prediabetes and its relationship with related metabolic indexes: a cross-sectional study.
Title: Changes in plasma IRAK-M in patients with prediabetes and its relationship with related metabolic indexes: a cross-sectional study.
IRAK-M deletion aggravates acute inflammatory response and mitochondrial respiratory dysfunction following myocardial infarction: A bioinformatics analysis.
Title: IRAK-M deletion aggravates acute inflammatory response and mitochondrial respiratory dysfunction following myocardial infarction: A bioinformatics analysis.
Modulation of Inflammatory Cytokine Production in Human Monocytes by cGMP and IRAK3.
Title: Modulation of Inflammatory Cytokine Production in Human Monocytes by cGMP and IRAK3.
MYD88, IRAK3 and Rheumatoid Arthritis pathogenesis: Analysis of differential gene expression in CD14 + monocytes and the inflammatory cytokine levels.
Title: MYD88, IRAK3 and Rheumatoid Arthritis pathogenesis: Analysis of differential gene expression in CD14 + monocytes and the inflammatory cytokine levels.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Asthma-related traits, susceptibility to, 5 MedGen: C1970224 OMIM: 611064 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80864 (e-PCR)
- UniSTS:86813

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

RH44812 (e-PCR)
- UniSTS:69711

GDB:636835 (e-PCR)
- UniSTS:158551

G09311 (e-PCR)
- UniSTS:19570

D11S3114 (e-PCR)
- UniSTS:152207

RH80872 (e-PCR)
- UniSTS:90023

RH103129 (e-PCR)
- UniSTS:97463

IRAK3_2162 (e-PCR)
- UniSTS:280787

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in MyD88-dependent toll-like receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Toll signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-1-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-1-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipopolysaccharide-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytokine-mediated signaling pathway	IC Inferred by Curator more info	PubMed
involved_in negative regulation of innate immune response	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of interleukin-12 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-12 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of macrophage cytokine production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein-containing complex disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macrophage tolerance induction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein-containing complex disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to exogenous dsRNA	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to interleukin-1	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to peptidoglycan	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to virus	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-1 receptor-associated kinase 3

Names: IL-1 receptor-associated kinase M; inactive IL-1 receptor-associated kinase 3

NP_001135995.1

EC 2.7.11.1

NP_009130.2

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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

NG_021194.1 RefSeqGene

Range

5017..70425

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142523.2 → NP_001135995.1 interleukin-1 receptor-associated kinase 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AC078889, AC078927, AK298645, AL049435, BP292474, BQ009433

Consensus CDS

CCDS44937.1

UniProtKB/TrEMBL

B2RA52

Related

ENSP00000409852.2, ENST00000457197.2

Conserved Domains (3) summary

smart00219
Location:110 → 382

TyrKc; Tyrosine kinase, catalytic domain

cd14160
Location:110 → 385

PK_IRAK3; Pseudokinase domain of Interleukin-1 Receptor Associated Kinase 3

cl14633
Location:15 → 51

DD; Death Domain Superfamily of protein-protein interaction domains
NM_007199.3 → NP_009130.2 interleukin-1 receptor-associated kinase 3 isoform a

See identical proteins and their annotated locations for NP_009130.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC078889, AF113136, AL049435, BC057800, BP292474, DA594800

Consensus CDS

CCDS8975.1

UniProtKB/Swiss-Prot

B4DQ57, Q9Y616

UniProtKB/TrEMBL

B2RA52

Related

ENSP00000261233.4, ENST00000261233.9

Conserved Domains (3) summary

smart00219
Location:171 → 443

TyrKc; Tyrosine kinase, catalytic domain

cd08796
Location:15 → 103

Death_IRAK-M; Death domain of Interleukin 1 Receptor Associated Kinase-M

cd14160
Location:171 → 446

PK_IRAK3; Pseudokinase domain of Interleukin-1 Receptor Associated Kinase 3