IL1RL1 interleukin 1 receptor like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL1RL1provided by HGNC
Official Full Name: interleukin 1 receptor like 1provided by HGNC
Primary source: HGNC:HGNC:5998
See related: Ensembl:ENSG00000115602 MIM:601203; AllianceGenome:HGNC:5998
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: T1; ST2; DER4; ST2L; ST2V; FIT-1; IL33R
Summary: The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Annotation information: Note: This gene, IL1RL1 (GeneID: 9173) which has the alias ST2, is found on chromosome 2. IL1RL1 encodes a member of the interleukin 1 receptor family. IL1RL1 has been confused in the published literature with ST2 (GeneID: 6761) on chromosome 11 which is a region that represents a putative locus associated with various forms of cancer. [23 Jun 2016]
Expression: Biased expression in placenta (RPKM 51.1), kidney (RPKM 5.3) and 3 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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (102311563..102352356)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (102769811..102810635)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (102928023..102968497)

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?

ST2 and IL-33 polymorphisms and the development of childhood asthma: a prospective birth cohort study in Finnish children.
Title: ST2 and IL-33 polymorphisms and the development of childhood asthma: a prospective birth cohort study in Finnish children.
Salivary IL-33 and sST2 levels in relation to TLR2 rs111200466 polymorphism and periodontitis.
Title: Salivary IL-33 and sST2 levels in relation to TLR2 rs111200466 polymorphism and periodontitis.
A type 1 immunity-restricted promoter of the IL-33 receptor gene directs antiviral T-cell responses.
Title: A type 1 immunity-restricted promoter of the IL-33 receptor gene directs antiviral T-cell responses.
The IL-33-ST2 axis plays a vital role in endometriosis via promoting epithelial-mesenchymal transition by phosphorylating beta-catenin.
Title: The IL-33-ST2 axis plays a vital role in endometriosis via promoting epithelial-mesenchymal transition by phosphorylating β-catenin.
Oxidised IL-33 drives COPD epithelial pathogenesis via ST2-independent RAGE/EGFR signalling complex.
Title: Oxidised IL-33 drives COPD epithelial pathogenesis via ST2-independent RAGE/EGFR signalling complex.
IL-33-ST2 signaling promotes stemness in subtypes of myeloid leukemia cells through the Wnt and Notch pathways.
Title: IL-33-ST2 signaling promotes stemness in subtypes of myeloid leukemia cells through the Wnt and Notch pathways.
An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-epsilon4 in female patients with Alzheimer's disease.
Title: An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer's disease.
Single nucleotide variants in the IL33 and IL1RL1 (ST2) genes are associated with periodontitis and with Aggregatibacter actinomycetemcomitans in the dental plaque biofilm: A putative role in understanding the host immune response in periodontitis.
Title: Single nucleotide variants in the IL33 and IL1RL1 (ST2) genes are associated with periodontitis and with Aggregatibacter actinomycetemcomitans in the dental plaque biofilm: A putative role in understanding the host immune response in periodontitis.
Association between IL1RL1 gene polymorphisms and allergic rhinitis risk in the Chinese Han population.
Title: Association between IL1RL1 gene polymorphisms and allergic rhinitis risk in the Chinese Han population.
IL-33/ST2 axis contributes to the dermal fibrosis of systemic sclerosis via promoting fibroblasts activation.
Title: IL-33/ST2 axis contributes to the dermal fibrosis of systemic sclerosis via promoting fibroblasts activation.

Submit: New GeneRIF Correction See all GeneRIFs (226)

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 genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. 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 analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of body fat distribution in African ancestry populations suggests new loci. 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 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
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 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
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 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
In vitro infection with HIV-1 subtype B upregulates ST2L expression in primary human astrocytes and SKNMC cells	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

D2S2552 (e-PCR)
- UniSTS:58525

RH68200 (e-PCR)
- UniSTS:79528

RH94265 (e-PCR)
- UniSTS:88781

G09503 (e-PCR)
- UniSTS:21711

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 cytokine receptor activity	TAS Traceable Author Statement more info	PubMed
enables interleukin-1 receptor activity	IEA Inferred from Electronic Annotation more info
enables interleukin-33 binding	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-33 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-33-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-33-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in macrophage differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 1 type immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chemokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-5 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macrophage activation	IEA Inferred from Electronic Annotation more info
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
located_in cytosol	IDA Inferred from Direct Assay more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
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	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interleukin-1 receptor-like 1

Names: growth stimulation-expressed; homolog of mouse growth stimulation-expressed; interleukin 1 receptor-related protein

NP_001269337.1

EC 3.2.2.6

NP_003847.2

EC 3.2.2.6

NP_057316.3

EC 3.2.2.6

XP_006712902.1

EC 3.2.2.6

XP_011510453.1

EC 3.2.2.6

XP_054200480.1

EC 3.2.2.6

XP_054200481.1

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_001282408.2 → NP_001269337.1 interleukin-1 receptor-like 1 isoform 3

See identical proteins and their annotated locations for NP_001269337.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in distinct 5' and 3' UTRs, cause translation initiation at a downstream start codon and translation termination at a different stop codon, compared to variant 1. It encodes isoform 3 which has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK303389, AL117622, BC030975, BQ012352

Consensus CDS

CCDS74548.1

UniProtKB/Swiss-Prot

Q01638

Related

ENSP00000384822.2, ENST00000404917.6

Conserved Domains (2) summary

cd05757
Location:1 → 87

Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins

smart00410
Location:3 → 80

IG_like; Immunoglobulin like
NM_003856.4 → NP_003847.2 interleukin-1 receptor-like 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_003847.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR exon and lacks several 3' terminal exons, and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL117622, BC030975, BQ012352

Consensus CDS

CCDS2058.1

UniProtKB/TrEMBL

E9PC41

Related

ENSP00000310371.2, ENST00000311734.6

Conserved Domains (2) summary

cd05756
Location:16 → 104

Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins

cd05757
Location:118 → 204

Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
NM_016232.5 → NP_057316.3 interleukin-1 receptor-like 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_057316.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB012701, AC007248, AK291578, DB063031

Consensus CDS

CCDS2057.1

UniProtKB/Swiss-Prot

A8K6B3, B4E0I3, Q01638, Q53TU7, Q8NEJ3, Q9ULV7, Q9UQ44

Related

ENSP00000233954.1, ENST00000233954.6

Conserved Domains (4) summary

cd05757
Location:118 → 204

Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins

smart00410
Location:21 → 104

IG_like; Immunoglobulin like

pfam01582
Location:380 → 535

TIR; TIR domain

cl11960
Location:16 → 104

Ig; Immunoglobulin domain

RNA

NR_104167.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' exon, an additional internal exon which includes a premature stop codon, and an alternate 3' segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB029084, AL117622, AL553735, BC030975, BQ012352, DA884586

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

102311563..102352356

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512151.2 → XP_011510453.1 interleukin-1 receptor-like 1 isoform X1

See identical proteins and their annotated locations for XP_011510453.1

UniProtKB/TrEMBL

E9PC41

Conserved Domains (2) summary

cd05756
Location:16 → 104

Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins

cd05757
Location:118 → 204

Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
XM_006712839.4 → XP_006712902.1 interleukin-1 receptor-like 1 isoform X2

See identical proteins and their annotated locations for XP_006712902.1

UniProtKB/Swiss-Prot

A8K6B3, B4E0I3, Q01638, Q53TU7, Q8NEJ3, Q9ULV7, Q9UQ44

Conserved Domains (4) summary

cd05757
Location:118 → 204

Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins

smart00410
Location:21 → 104

IG_like; Immunoglobulin like

pfam01582
Location:380 → 535

TIR; TIR domain

cl11960
Location:16 → 104

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

102769811..102810635

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344505.1 → XP_054200480.1 interleukin-1 receptor-like 1 isoform X1

UniProtKB/TrEMBL

E9PC41
XM_054344506.1 → XP_054200481.1 interleukin-1 receptor-like 1 isoform X2

UniProtKB/Swiss-Prot

A8K6B3, B4E0I3, Q01638, Q53TU7, Q8NEJ3, Q9ULV7, Q9UQ44

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173459.1: Suppressed sequence

Description

NM_173459.1: This RefSeq was permantly suppressed because it represented an alternate exon that was weakly supported and resulted in premature truncation of the protein and a transcript which is a nonsense-mediated decay (NMD) ca