IRAK1 interleukin 1 receptor associated kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRAK1provided by HGNC
Official Full Name: interleukin 1 receptor associated kinase 1provided by HGNC
Primary source: HGNC:HGNC:6112
See related: Ensembl:ENSG00000184216 MIM:300283; AllianceGenome:HGNC:6112
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: IRAK; pelle
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 of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 25.0), appendix (RPKM 19.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154010507..154019902, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152284194..152293583, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153275958..153285353, complement)

Chromosome X - NC_000023.11 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?

YTHDC1-Modified m6A Methylation of Hsa_circ_0102678 Promotes Keratinocyte Inflammation Induced by Cutibacterium acnes Biofilm through Regulating miR-146a/TRAF6 and IRAK1 Axis.
Title: YTHDC1-Modified m6A Methylation of Hsa_circ_0102678 Promotes Keratinocyte Inflammation Induced by Cutibacterium acnes Biofilm through Regulating miR-146a/TRAF6 and IRAK1 Axis.
RNF152 Suppresses Fatty Acid Oxidation and Metastasis of Lung Adenocarcinoma by Inhibiting IRAK1-Mediated AKR1B10 Expression.
Title: RNF152 Suppresses Fatty Acid Oxidation and Metastasis of Lung Adenocarcinoma by Inhibiting IRAK1-Mediated AKR1B10 Expression.
Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.
Title: Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.
Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients.
Title: Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients.
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-kappaB-Induced Inflammation.
Title: IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.
Expression of IRAK1 in Hepatocellular Carcinoma, Its Clinical Significance, and Docking Characteristics with Selected Natural Compounds.
Title: Expression of IRAK1 in Hepatocellular Carcinoma, Its Clinical Significance, and Docking Characteristics with Selected Natural Compounds.
miR-146a Enhances the Sensitivity of Breast Cancer Cells to Paclitaxel by Downregulating IRAK1.
Title: miR-146a Enhances the Sensitivity of Breast Cancer Cells to Paclitaxel by Downregulating IRAK1.
INTERACTIONS BETWEEN BIOLOGICAL SEX AND THE X-LINKED VARIANT IRAK1 HAPLOTYPE IN MODULATING CLINICAL OUTCOME AND CELLULAR PHENOTYPES AFTER TRAUMA.
Title: INTERACTIONS BETWEEN BIOLOGICAL SEX AND THE X-LINKED VARIANT IRAK1 HAPLOTYPE IN MODULATING CLINICAL OUTCOME AND CELLULAR PHENOTYPES AFTER TRAUMA.
Interleukin Receptor Associated Kinase 1 Signaling and Its Association with Cardiovascular Diseases.
Title: Interleukin Receptor Associated Kinase 1 Signaling and Its Association with Cardiovascular Diseases.
Assessment of Association between miR-146a Polymorphisms and Expression of miR-146a, TRAF-6, and IRAK-1 Genes in Patients with Brucellosis.
Title: Assessment of Association between miR-146a Polymorphisms and Expression of miR-146a, TRAF-6, and IRAK-1 Genes in Patients with Brucellosis.

Submit: New GeneRIF Correction See all GeneRIFs (180)

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

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat specifically associates with IRAK1 promoter to downregulate IRAK1 expression in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD04883 (e-PCR)
- UniSTS:285953

ECD11068 (e-PCR)
- UniSTS:292104

ECD04118 (e-PCR)
- UniSTS:285197

ECD03607 (e-PCR)
- UniSTS:284687

RH45050 (e-PCR)
- UniSTS:22039

RH80551 (e-PCR)
- UniSTS:84764

ECD07751 (e-PCR)
- UniSTS:288801

SHGC-171695 (e-PCR)
- UniSTS:185122

RH80656 (e-PCR)
- UniSTS:89389

ECD01063 (e-PCR)
- UniSTS:282170

ECD08306 (e-PCR)
- UniSTS:289354

G42895 (e-PCR)
- UniSTS:94804

ECD12173 (e-PCR)
- UniSTS:293206

ECD06264 (e-PCR)
- UniSTS:287326

ECD02651 (e-PCR)
- UniSTS:283745

ECD01621 (e-PCR)
- UniSTS:282723

RH80797 (e-PCR)
- UniSTS:89187

ECD07562 (e-PCR)
- UniSTS:288613

ECD08607 (e-PCR)
- UniSTS:289655

REN88509 (e-PCR)
- UniSTS:413307

REN88510 (e-PCR)
- UniSTS:413308

REN88511 (e-PCR)
- UniSTS:413309

REN88512 (e-PCR)
- UniSTS:413310

REN88513 (e-PCR)
- UniSTS:413311

REN88514 (e-PCR)
- UniSTS:413312

REN88515 (e-PCR)
- UniSTS:413313

REN88516 (e-PCR)
- UniSTS:413314

REN88517 (e-PCR)
- UniSTS:413315

REN88518 (e-PCR)
- UniSTS:413316

ECD03207 (e-PCR)
- UniSTS:284292

REN88519 (e-PCR)
- UniSTS:413317

REN88520 (e-PCR)
- UniSTS:413318

REN88521 (e-PCR)
- UniSTS:413319

REN88522 (e-PCR)
- UniSTS:413320

REN88523 (e-PCR)
- UniSTS:413321

DXS7069 (e-PCR)
- UniSTS:99721

REN88524 (e-PCR)
- UniSTS:413322

REN88525 (e-PCR)
- UniSTS:413323

REN88526 (e-PCR)
- UniSTS:413324

REN88527 (e-PCR)
- UniSTS:413325

REN88528 (e-PCR)
- UniSTS:413326

REN88529 (e-PCR)
- UniSTS:413327

REN88530 (e-PCR)
- UniSTS:413328

REN88531 (e-PCR)
- UniSTS:413329

REN88532 (e-PCR)
- UniSTS:413330

REN88533 (e-PCR)
- UniSTS:413331

REN88534 (e-PCR)
- UniSTS:413332

REN88535 (e-PCR)
- UniSTS:413333

REN88536 (e-PCR)
- UniSTS:413334

REN88537 (e-PCR)
- UniSTS:413335

REN88538 (e-PCR)
- UniSTS:413336

REN88539 (e-PCR)
- UniSTS:413337

REN88540 (e-PCR)
- UniSTS:413338

REN88541 (e-PCR)
- UniSTS:413339

REN88542 (e-PCR)
- UniSTS:413340

ECD20465 (e-PCR)
- UniSTS:301468

REN88543 (e-PCR)
- UniSTS:413341

REN88544 (e-PCR)
- UniSTS:413342

ECD03233 (e-PCR)
- UniSTS:284318

G65801 (e-PCR)
- UniSTS:166814

REN88545 (e-PCR)
- UniSTS:413343

REN88546 (e-PCR)
- UniSTS:413344

REN88547 (e-PCR)
- UniSTS:413345

REN88548 (e-PCR)
- UniSTS:413346

ECD01941 (e-PCR)
- UniSTS:283042

REN88549 (e-PCR)
- UniSTS:413347

REN88550 (e-PCR)
- UniSTS:413348

REN88551 (e-PCR)
- UniSTS:413349

REN88552 (e-PCR)
- UniSTS:413350

REN88553 (e-PCR)
- UniSTS:413351

REN88554 (e-PCR)
- UniSTS:413352

REN88555 (e-PCR)
- UniSTS:413353

DXS1012E (e-PCR)
- UniSTS:99497

REN88556 (e-PCR)
- UniSTS:413354

REN88557 (e-PCR)
- UniSTS:413355

REN88558 (e-PCR)
- UniSTS:413356

REN88562 (e-PCR)
- UniSTS:413360

REN88563 (e-PCR)
- UniSTS:413361

ECD20486 (e-PCR)
- UniSTS:301489

REN88564 (e-PCR)
- UniSTS:413362

REN88565 (e-PCR)
- UniSTS:413363

ECD23323 (e-PCR)
- UniSTS:304307

REN88566 (e-PCR)
- UniSTS:413364

REN88567 (e-PCR)
- UniSTS:413365

REN88568 (e-PCR)
- UniSTS:413366

REN88569 (e-PCR)
- UniSTS:413367

REN88570 (e-PCR)
- UniSTS:413368

REN88572 (e-PCR)
- UniSTS:413370

REN88573 (e-PCR)
- UniSTS:413371

REN88574 (e-PCR)
- UniSTS:413372

REN88575 (e-PCR)
- UniSTS:413373

REN88576 (e-PCR)
- UniSTS:413374

REN88577 (e-PCR)
- UniSTS:413375

REN88578 (e-PCR)
- UniSTS:413376

REN88579 (e-PCR)
- UniSTS:413377

REN88580 (e-PCR)
- UniSTS:413378

REN88581 (e-PCR)
- UniSTS:413379

REN88582 (e-PCR)
- UniSTS:413380

REN88583 (e-PCR)
- UniSTS:413381

REN88584 (e-PCR)
- UniSTS:413382

REN88585 (e-PCR)
- UniSTS:413383

REN88586 (e-PCR)
- UniSTS:413384

REN88587 (e-PCR)
- UniSTS:413385

REN88588 (e-PCR)
- UniSTS:413386

ECD07711 (e-PCR)
- UniSTS:288761

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables heat shock protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase activity	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	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase activity	TAS Traceable Author Statement more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
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 canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to heat	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor 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	IDA Inferred from Direct Assay more info
involved_in interleukin-1-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-33-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	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 positive regulation of MAP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of NF-kappaB transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	TAS Traceable Author Statement more info
involved_in positive regulation of leukocyte adhesion to vascular endothelial cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type I interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to interleukin-1	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in toll-like receptor 2 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in toll-like receptor 2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in toll-like receptor 4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in toll-like receptor 9 signaling pathway	TAS Traceable Author Statement more info
involved_in toll-like receptor signaling pathway	TAS Traceable Author Statement more info
involved_in type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interleukin-1 receptor-associated kinase 1

Names: Pelle homolog

NP_001020413.1

EC 2.7.11.1

NP_001020414.1

EC 2.7.11.1

NP_001397630.1

EC 2.7.11.1

NP_001560.2

EC 2.7.11.1

XP_047298053.1

EC 2.7.11.1

XP_047298054.1

EC 2.7.11.1

XP_054183009.1

EC 2.7.11.1

XP_054183010.1

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_008387.1 RefSeqGene

Range

4990..14385

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001025242.2 → NP_001020413.1 interleukin-1 receptor-associated kinase 1 isoform 2

See identical proteins and their annotated locations for NP_001020413.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AF346607, BC014963, BC054000, L76191, U52112

Consensus CDS

CCDS35444.1

UniProtKB/Swiss-Prot

P51617

Related

ENSP00000377291.2, ENST00000393687.6

Conserved Domains (3) summary

cd08794
Location:17 → 100

Death_IRAK1; Death domain of Interleukin 1 Receptor Associated Kinase-1

pfam07714
Location:217 → 513

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:218 → 513

PKc_like; Protein Kinases, catalytic domain
NM_001025243.2 → NP_001020414.1 interleukin-1 receptor-associated kinase 1 isoform 3

See identical proteins and their annotated locations for NP_001020414.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

BC014963, BC054000, BE276817, L76191, U52112

Consensus CDS

CCDS35443.1

UniProtKB/Swiss-Prot

P51617

Related

ENSP00000358991.2, ENST00000369974.6

Conserved Domains (2) summary

cd08794
Location:17 → 100

Death_IRAK1; Death domain of Interleukin 1 Receptor Associated Kinase-1

cl21453
Location:218 → 434

PKc_like; Protein Kinases, catalytic domain
NM_001410701.1 → NP_001397630.1 interleukin-1 receptor-associated kinase 1 isoform 4

Status: REVIEWED

Source sequence(s)

U52112

Consensus CDS

CCDS94700.1

UniProtKB/TrEMBL

D3YTB5

Related

ENSP00000392662.2, ENST00000429936.6
NM_001569.4 → NP_001560.2 interleukin-1 receptor-associated kinase 1 isoform 1

See identical proteins and their annotated locations for NP_001560.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC014963, BC054000, BE276817, L76191, U52112

Consensus CDS

CCDS14740.1

UniProtKB/Swiss-Prot

D3DWW3, D3DWW4, P51617, Q7Z5V4, Q96C06, Q96RL2

Related

ENSP00000358997.3, ENST00000369980.8

Conserved Domains (3) summary

cd08794
Location:17 → 100

Death_IRAK1; Death domain of Interleukin 1 Receptor Associated Kinase-1

pfam00069
Location:212 → 514

Pkinase; Protein kinase domain

cl21453
Location:218 → 521

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

154010507..154019902 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442098.1 → XP_047298054.1 interleukin-1 receptor-associated kinase 1 isoform X2
XM_047442097.1 → XP_047298053.1 interleukin-1 receptor-associated kinase 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

152284194..152293583 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327035.1 → XP_054183010.1 interleukin-1 receptor-associated kinase 1 isoform X2
XM_054327034.1 → XP_054183009.1 interleukin-1 receptor-associated kinase 1 isoform X1