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IL18R1 interleukin 18 receptor 1 [ Homo sapiens (human) ]

Gene ID: 8809, updated on 2-Nov-2024

Summary

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Official Symbol
IL18R1provided by HGNC
Official Full Name
interleukin 18 receptor 1provided by HGNC
Primary source
HGNC:HGNC:5988
See related
Ensembl:ENSG00000115604 MIM:604494; AllianceGenome:HGNC:5988
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
CD218a; IL18RA; IL1RRP; CDw218a; IL-1Rrp; IL-18Ralpha; IL18Ralpha2; IL-18R-alpha
Summary
The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Expression
Broad expression in appendix (RPKM 4.6), gall bladder (RPKM 3.7) and 21 other tissues See more
Orthologs
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Genomic context

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See IL18R1 in Genome Data Viewer
Location:
2q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102355796..102398776)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (102814660..102857641)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (102972256..103015236)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102867123-102867716 Neighboring gene CFAP144 pseudogene 2 Neighboring gene interleukin 1 receptor like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102972025-102972526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16307 Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5 Neighboring gene interleukin 18 receptor accessory protein Neighboring gene microRNA 4772

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Increased serum levels of soluble IL-18 receptor complex in patients with allergic asthma. Imaoka H, et al. Allergol Int, 2013 Dec. PMID 23963474
  2. Soluble interleukin-18 receptor complex is a novel biomarker in rheumatoid arthritis. Takei S, et al. Arthritis Res Ther, 2011 Mar 24. PMID 21435242, Free PMC Article
  3. Polymorphisms in the interleukin 18 receptor 1 gene and tuberculosis susceptibility among Chinese. Zhang J, et al. PLoS One, 2014. PMID 25360588, Free PMC Article
  4. Enhanced expression of interleukin-18 receptor alpha chain by CD4+ T cells in sarcoidosis. Zhou Y, et al. Chest, 2005 Oct. PMID 16236915
  5. Human plasmacytoid dendritic cells regulate IFN-α production through activation-induced splicing of IL-18Rα. Chao Y, et al. J Leukoc Biol, 2014 Dec. PMID 25170117

See all (99) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ACSL6-activated IL-18R1-NF-kappaB promotes IL-18-mediated tumor immune evasion and tumor progression.
    Title: ACSL6-activated IL-18R1-NF-κB promotes IL-18-mediated tumor immune evasion and tumor progression.
  2. Increased expression of serum IL-18 and IL-18R in newly diagnosed type 2 diabetes mellitus.
    Title: Increased expression of serum IL-18 and IL-18R in newly diagnosed type 2 diabetes mellitus.
  3. Downregulation of T-cell cytotoxic marker IL18R1 promotes cancer proliferation and migration and is associated with dismal prognosis and immunity in lung squamous cell carcinoma.
    Title: Downregulation of T-cell cytotoxic marker IL18R1 promotes cancer proliferation and migration and is associated with dismal prognosis and immunity in lung squamous cell carcinoma.
  4. IL18-family Genes Polymorphism Is Associated with the Risk of Myocardial Infarction and IL18 Concentration in Patients with Coronary Artery Disease.
    Title: IL18-family Genes Polymorphism Is Associated with the Risk of Myocardial Infarction and IL18 Concentration in Patients with Coronary Artery Disease.
  5. IL-18/IL-18R1 promotes circulating fibrocyte differentiation in the aging population.
    Title: IL-18/IL-18R1 promotes circulating fibrocyte differentiation in the aging population.
  6. Our replicated associations with HK1 and IL18R1 suggest that variants in inflammatory pathways, such as the biologically-plausible NLRP3 inflammasome, may contribute to nocturnal hypoxemia.
    Title: Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.
  7. asthma is very likely to be determined by balance of IL-18/IL-18BP/IL-18R expression in inflammatory cells.
    Title: Role of IL-18 in atopic asthma is determined by balance of IL-18/IL-18BP/IL-18R.
  8. IL-18, IL-18R and IL-18BP expression in eosinophil are involved in the inflammatory reaction of asthma.
    Title: [Elevated IL-18, IL-18 binding protein and IL-18 receptor in eosinophil-enriched blood cells in patients with asthma].
  9. IL18R1 rs1035130 may be associated with schizophrenia.
    Title: Potential involvement of the interleukin-18 pathway in schizophrenia.
  10. some SNPs of ST2-IL18R1-IL18RAP gene cluster might increase the risk of susceptibility of Graves' disease (GD) and Hashimoto's thyroiditis (HT) in Chinese Han population.
    Title: Polymorphisms of ST2-IL18R1-IL18RAP gene cluster: a new risk for autoimmune thyroid diseases.
Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A large-scale, consortium-based genomewide association study of asthma.
EBI GWAS Catalog
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
EBI GWAS Catalog
Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
EBI GWAS Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
EBI GWAS Catalog
Genome-wide association study to identify genetic determinants of severe asthma.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
EBI GWAS Catalog

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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Replication interactions

Interaction Pubs
Knockdown of interleukin 18 receptor 1 (IL18R1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show downregulation of interleukin 18 receptor 1 (IL18R1) expression as compared to untreated control PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD+ nucleosidase activity IEA
Inferred from Electronic Annotation
more info
  
enables NAD+ nucleotidase, cyclic ADP-ribose generating IEA
Inferred from Electronic Annotation
more info
  
enables interleukin-1 receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables interleukin-18 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables interleukin-18 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables interleukin-18 receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in T-helper 1 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in adaptive immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in interleukin-18-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interleukin-18-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in natural killer cell activation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of T-helper 1 cell cytokine production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of non-canonical NF-kappaB signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of type II interferon production IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of type II interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of interleukin-18 receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
interleukin-18 receptor 1
Names
CD218 antigen-like family member A
IL1 receptor-related protein
cytokine receptor
interleukin-18 receptor alpha
NP_001269328.1
NP_001358347.1
NP_001358348.1
NP_001358349.1
NP_001358350.1
NP_001358351.1
NP_001358352.1
NP_001358353.1
NP_003846.1
XP_024308970.1
XP_024308972.1
XP_024308973.1
XP_047302123.1
XP_047302124.1
XP_047302125.1
XP_054200332.1
XP_054200333.1
XP_054200334.1
XP_054200335.1
XP_054200336.1
XP_054200337.1

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.

mRNA and Protein(s)

  1. NM_001282399.2 → NP_001269328.1  interleukin-18 receptor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC007248
    UniProtKB/Swiss-Prot
    Q13478
    Conserved Domains (4) summary
    cd00096
    Location:78 → 156
    Ig; Immunoglobulin domain
    smart00410
    Location:69 → 158
    IG_like; Immunoglobulin like
    pfam01582
    Location:222 → 364
    TIR; TIR domain
    cl11960
    Location:2 → 53
    Ig; Immunoglobulin domain

  2. NM_001371418.1 → NP_001358347.1  interleukin-18 receptor 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
    UniProtKB/TrEMBL
    B7ZKV7
    Conserved Domains (4) summary
    PHA02785
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional
    pfam01582
    Location:376 → 540
    TIR; TIR domain
    pfam18452
    Location:72 → 119
    Ig_6; Immunoglobulin domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain

  3. NM_001371419.1 → NP_001358348.1  interleukin-18 receptor 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (3) summary
    PHA02785
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional
    pfam18452
    Location:72 → 119
    Ig_6; Immunoglobulin domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain

  4. NM_001371420.1 → NP_001358349.1  interleukin-18 receptor 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (3) summary
    PHA02785
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional
    pfam18452
    Location:72 → 119
    Ig_6; Immunoglobulin domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain

  5. NM_001371421.1 → NP_001358350.1  interleukin-18 receptor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (3) summary
    PHA02785
    Location:16 → 157
    PHA02785; IL-beta-binding protein; Provisional
    pfam01582
    Location:222 → 386
    TIR; TIR domain
    cl11960
    Location:2 → 53
    Ig; Immunoglobulin domain

  6. NM_001371422.1 → NP_001358351.1  interleukin-18 receptor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (1) summary
    pfam01582
    Location:128 → 292
    TIR; TIR domain

  7. NM_001371423.1 → NP_001358352.1  interleukin-18 receptor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (1) summary
    pfam01582
    Location:127 → 291
    TIR; TIR domain

  8. NM_001371424.1 → NP_001358353.1  interleukin-18 receptor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Conserved Domains (1) summary
    pfam01582
    Location:127 → 291
    TIR; TIR domain

  9. NM_003855.5 → NP_003846.1  interleukin-18 receptor 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003846.1

    Status: REVIEWED

    Source sequence(s)
    AC007248
    Consensus CDS
    CCDS2060.1
    UniProtKB/Swiss-Prot
    B2R9Y5, Q13478, Q52LC9
    Related
    ENSP00000233957.1, ENST00000233957.7
    Conserved Domains (3) summary
    pfam01582
    Location:378 → 520
    TIR; TIR domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain
    cl28655
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    102355796..102398776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453204.2 → XP_024308972.1  interleukin-18 receptor 1 isoform X3

    Conserved Domains (3) summary
    pfam01582
    Location:351 → 467
    TIR; TIR domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain
    cl28655
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional

  2. XM_024453205.2 → XP_024308973.1  interleukin-18 receptor 1 isoform X4

    Conserved Domains (3) summary
    pfam01582
    Location:324 → 466
    TIR; TIR domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain
    cl28655
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional

  3. XM_024453202.2 → XP_024308970.1  interleukin-18 receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R9Y5, Q13478, Q52LC9
    Related
    ENSP00000387211.1, ENST00000409599.5
    Conserved Domains (3) summary
    pfam01582
    Location:378 → 520
    TIR; TIR domain
    cl11960
    Location:129 → 208
    Ig; Immunoglobulin domain
    cl28655
    Location:171 → 312
    PHA02785; IL-beta-binding protein; Provisional

  4. XM_047446167.1 → XP_047302123.1  interleukin-18 receptor 1 isoform X2

    UniProtKB/TrEMBL
    B7ZKV7

  5. XM_047446169.1 → XP_047302125.1  interleukin-18 receptor 1 isoform X6

  6. XM_047446168.1 → XP_047302124.1  interleukin-18 receptor 1 isoform X5

RNA

  1. XR_923054.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    102814660..102857641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344359.1 → XP_054200334.1  interleukin-18 receptor 1 isoform X3

  2. XM_054344360.1 → XP_054200335.1  interleukin-18 receptor 1 isoform X4

  3. XM_054344357.1 → XP_054200332.1  interleukin-18 receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R9Y5, Q13478, Q52LC9

  4. XM_054344358.1 → XP_054200333.1  interleukin-18 receptor 1 isoform X2

    UniProtKB/TrEMBL
    B7ZKV7

  5. XM_054344362.1 → XP_054200337.1  interleukin-18 receptor 1 isoform X6

  6. XM_054344361.1 → XP_054200336.1  interleukin-18 receptor 1 isoform X5

RNA

  1. XR_008486579.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13478.1 GenPept UniProtKB/Swiss-Prot:Q13478

Gene LinkOut

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