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

Gene ID: 8809, updated on 1-Jun-2020

Summary

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
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

Genomic context

See IL18R1 in Genome Data Viewer
Location:
2q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (102355796..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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD(P)+ nucleosidase activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ nucleotidase, cyclic ADP-ribose generating IEA
Inferred from Electronic Annotation
more info
 
interleukin-1 receptor activity IEA
Inferred from Electronic Annotation
more info
 
interleukin-18 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-18 binding IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-18 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-18 receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling 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
 
cellular response to cytokine stimulus TAS
Traceable Author Statement
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
interleukin-18-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-18-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-18-mediated signaling pathway TAS
Traceable Author Statement
more info
 
natural killer cell activation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T-helper 1 cell cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
interleukin-18 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

    Status: REVIEWED

    Source sequence(s)
    AC007248
    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_001371418.1NP_001358347.1  interleukin-18 receptor 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
  3. NM_001371419.1NP_001358348.1  interleukin-18 receptor 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
  4. NM_001371420.1NP_001358349.1  interleukin-18 receptor 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007248
  5. NM_001371421.1NP_001358350.1  interleukin-18 receptor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC007248
  6. NM_001371422.1NP_001358351.1  interleukin-18 receptor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007248
  7. NM_001371423.1NP_001358352.1  interleukin-18 receptor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007248
  8. NM_001371424.1NP_001358353.1  interleukin-18 receptor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007248
  9. NM_003855.5NP_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
    Q13478
    Related
    ENSP00000233957.1, ENST00000233957.5
    Conserved Domains (3) summary
    pfam01582
    Location:378520
    TIR; TIR domain
    cl11960
    Location:129208
    Ig; Immunoglobulin domain
    cl28655
    Location:171312
    PHA02785; IL-beta-binding protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    102355796..102398777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    pfam01582
    Location:351467
    TIR; TIR domain
    cl11960
    Location:129208
    Ig; Immunoglobulin domain
    cl28655
    Location:171312
    PHA02785; IL-beta-binding protein; Provisional
  2. XM_024453205.1XP_024308973.1  interleukin-18 receptor 1 isoform X4

    Conserved Domains (3) summary
    pfam01582
    Location:324466
    TIR; TIR domain
    cl11960
    Location:129208
    Ig; Immunoglobulin domain
    cl28655
    Location:171312
    PHA02785; IL-beta-binding protein; Provisional
  3. XM_024453202.1XP_024308970.1  interleukin-18 receptor 1 isoform X1

    Related
    ENSP00000387211.1, ENST00000409599.5
    Conserved Domains (3) summary
    pfam01582
    Location:378520
    TIR; TIR domain
    cl11960
    Location:129208
    Ig; Immunoglobulin domain
    cl28655
    Location:171312
    PHA02785; IL-beta-binding protein; Provisional

RNA

  1. XR_923054.3 RNA Sequence

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