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

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; 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

Location:: 2q12.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (102355796..102398776)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (102814660..102857641)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (102972256..103015236)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
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.
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.
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.
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.
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.
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].
IL18R1 rs1035130 may be associated with schizophrenia.
Title: Potential involvement of the interleukin-18 pathway in schizophrenia.
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.
IL-18 and IL-18R polymorphisms may contribute to the development and lymph node metastasis of PTC.
Title: Single Nucleotide Polymorphism of Interleukin-18 and Interleukin-18 Receptor and the Risk of Papillary Thyroid Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sctt010 (e-PCR), detects polymorphism
- UniSTS:501098

IL18R1_150 (e-PCR)
- UniSTS:277368

SHGC-80064 (e-PCR)
- UniSTS:102122

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	IBA Inferred from Biological aspect of Ancestor 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 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
part_of interleukin-18 receptor complex	IDA Inferred from Direct Assay more info	PubMed
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

EC 3.2.2.6

NP_001358347.1

EC 3.2.2.6

NP_001358348.1

EC 3.2.2.6

NP_001358349.1

EC 3.2.2.6

NP_001358350.1

EC 3.2.2.6

NP_001358351.1

EC 3.2.2.6

NP_001358352.1

EC 3.2.2.6

NP_001358353.1

EC 3.2.2.6

NP_003846.1

EC 3.2.2.6

XP_024308970.1

EC 3.2.2.6

XP_024308972.1

EC 3.2.2.6

XP_024308973.1

EC 3.2.2.6

XP_047302123.1

EC 3.2.2.6

XP_047302124.1

EC 3.2.2.6

XP_047302125.1

EC 3.2.2.6

XP_054200332.1

EC 3.2.2.6

XP_054200333.1

EC 3.2.2.6

XP_054200334.1

EC 3.2.2.6

XP_054200335.1

EC 3.2.2.6

XP_054200336.1

EC 3.2.2.6

XP_054200337.1

EC 3.2.2.6

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)

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
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
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
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
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
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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

102355796..102398776

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B7ZKV7
XM_047446169.1 → XP_047302125.1 interleukin-18 receptor 1 isoform X6
XM_047446168.1 → XP_047302124.1 interleukin-18 receptor 1 isoform X5

RNA

XR_923054.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

102814660..102857641

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344359.1 → XP_054200334.1 interleukin-18 receptor 1 isoform X3
XM_054344360.1 → XP_054200335.1 interleukin-18 receptor 1 isoform X4
XM_054344357.1 → XP_054200332.1 interleukin-18 receptor 1 isoform X1

UniProtKB/Swiss-Prot

B2R9Y5, Q13478, Q52LC9
XM_054344358.1 → XP_054200333.1 interleukin-18 receptor 1 isoform X2

UniProtKB/TrEMBL

B7ZKV7
XM_054344362.1 → XP_054200337.1 interleukin-18 receptor 1 isoform X6
XM_054344361.1 → XP_054200336.1 interleukin-18 receptor 1 isoform X5