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

    Gene ID: 8809, updated on 9-Jul-2017
    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; Vega:OTTHUMG00000130780
    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
    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]
    Orthologs
    Location:
    2q12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (102355817..102398777)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (102979093..103015230)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 183 member D, pseudogene Neighboring gene interleukin 1 receptor like 1 Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5 Neighboring gene interleukin 18 receptor accessory protein Neighboring gene microRNA 4772

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • IL12 signaling mediated by STAT4, organism-specific biosystem (from Pathway Interaction Database)
      IL12 signaling mediated by STAT4, organism-specific biosystem
      IL12 signaling mediated by STAT4
    • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL12-mediated signaling events, organism-specific biosystem
      IL12-mediated signaling events
    • IL23-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL23-mediated signaling events, organism-specific biosystem
      IL23-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interleukin-1 receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-18 receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-18-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    interleukin-18 receptor 1
    Names
    CD218 antigen-like family member A
    IL-18R-1
    IL-18R1
    IL1 receptor-related protein
    IL18Ralpha2
    IL1R-rp
    cytokine receptor

    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_001282399.1NP_001269328.1  interleukin-18 receptor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region but has an additional exon in a downstream region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI803942, BC143405, DR006178, U43672
      UniProtKB/Swiss-Prot
      Q13478
      Conserved Domains (4) summary
      cd00096
      Location:78156
      Ig; Immunoglobulin domain
      smart00410
      Location:69158
      IG_like; Immunoglobulin like
      pfam01582
      Location:222364
      TIR; TIR domain
      cl11960
      Location:253
      Ig; Immunoglobulin domain
    2. NM_003855.3NP_003846.1  interleukin-18 receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_003846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI803942, BC069575, DR006178, U43672
      Consensus CDS
      CCDS2060.1
      UniProtKB/Swiss-Prot
      Q13478
      Related
      ENSP00000233957.1, ENST00000233957.5
      Conserved Domains (3) summary
      smart00410
      Location:26111
      IG_like; Immunoglobulin like
      pfam01582
      Location:378520
      TIR; TIR domain
      cl11960
      Location:129208
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      102355817..102398777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005183.1XP_016860672.1  interleukin-18 receptor 1 isoform X6

    2. XM_017005184.1XP_016860673.1  interleukin-18 receptor 1 isoform X6

    3. XM_017005182.1XP_016860671.1  interleukin-18 receptor 1 isoform X5

    4. XM_017005181.1XP_016860670.1  interleukin-18 receptor 1 isoform X4

      Conserved Domains (4) summary
      cd00096
      Location:78156
      Ig; Immunoglobulin domain
      smart00410
      Location:69158
      IG_like; Immunoglobulin like
      pfam01582
      Location:223365
      TIR; TIR domain
      cl11960
      Location:253
      Ig; Immunoglobulin domain
    5. XM_005264040.3XP_005264097.1  interleukin-18 receptor 1 isoform X2

      Conserved Domains (3) summary
      smart00255
      Location:364470
      TIR; Toll - interleukin 1 - resistance
      smart00410
      Location:26111
      IG_like; Immunoglobulin like
      cl11960
      Location:129208
      Ig; Immunoglobulin domain
    6. XM_005264039.3XP_005264096.1  interleukin-18 receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_005264096.1

      UniProtKB/TrEMBL
      B7ZKV7
      Conserved Domains (3) summary
      smart00410
      Location:26111
      IG_like; Immunoglobulin like
      pfam01582
      Location:377519
      TIR; TIR domain
      cl11960
      Location:129208
      Ig; Immunoglobulin domain
    7. XM_011512099.1XP_011510401.1  interleukin-18 receptor 1 isoform X3

      Conserved Domains (3) summary
      smart00410
      Location:26111
      IG_like; Immunoglobulin like
      pfam01582
      Location:324466
      TIR; TIR domain
      cl11960
      Location:129208
      Ig; Immunoglobulin domain

    RNA

    1. XR_923054.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      102977047..103019534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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