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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
    mouse all
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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)

    Genotypes

    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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    NEW Try the new Transcript table

    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

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