IL1RN interleukin 1 receptor antagonist [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL1RNprovided by HGNC
Official Full Name: interleukin 1 receptor antagonistprovided by HGNC
Primary source: HGNC:HGNC:6000
See related: Ensembl:ENSG00000136689 MIM:147679; AllianceGenome:HGNC:6000
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: DIRA; IRAP; CRMO2; IL1F3; IL1RA; MVCD4; IL-1RN; IL-1ra; IL-1ra3; ICIL-1RA
Summary: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Biased expression in esophagus (RPKM 367.9), bone marrow (RPKM 53.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (113099360..113134014)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (113544556..113560594)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113875548..113891591)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IL27 and IL1RN are causally associated with acute pancreatitis: a Mendelian randomization study.
Title: IL27 and IL1RN are causally associated with acute pancreatitis: a Mendelian randomization study.
Exosome microRNA-125a-5p derived from epithelium promotes M1 macrophage polarization by targeting IL1RN in chronic obstructive pulmonary disease.
Title: Exosome microRNA-125a-5p derived from epithelium promotes M1 macrophage polarization by targeting IL1RN in chronic obstructive pulmonary disease.
The Influence of Genetic Polymorphisms on the Expression of Interleukin-1beta, Prostaglandin E2 and Tumor Necrosis Factor Alpha in Peri-Implant Crevicular Fluid: A Cross-Sectional Study.
Title: The Influence of Genetic Polymorphisms on the Expression of Interleukin-1beta, Prostaglandin E2 and Tumor Necrosis Factor Alpha in Peri-Implant Crevicular Fluid: A Cross-Sectional Study.
Elevated IL-1beta and Comparable IL-1 Receptor Antagonist Levels Are Characteristic Features of L-PRP in Female College Athletes Compared to Male Professional Soccer Players.
Title: Elevated IL-1β and Comparable IL-1 Receptor Antagonist Levels Are Characteristic Features of L-PRP in Female College Athletes Compared to Male Professional Soccer Players.
Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort.
Title: Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort.
DIA-based analysis of the menstrual blood proteome identifies association between CXCL5 and IL1RN and endometriosis.
Title: DIA-based analysis of the menstrual blood proteome identifies association between CXCL5 and IL1RN and endometriosis.
Investigating the relationship between the VNTR variant of the interleukin-1 receptor antagonist gene and coronary in-stent restenosis.
Title: Investigating the relationship between the VNTR variant of the interleukin-1 receptor antagonist gene and coronary in-stent restenosis.
IL-1RA promotes oral squamous cell carcinoma malignancy through mitochondrial metabolism-mediated EGFR/JNK/SOX2 pathway.
Title: IL-1RA promotes oral squamous cell carcinoma malignancy through mitochondrial metabolism-mediated EGFR/JNK/SOX2 pathway.
The role of genetic polymorphisms of interleukin-1 (IL-1R1 and IL-1RN) in primary knee osteoarthritis in Indonesia.
Title: The role of genetic polymorphisms of interleukin-1 (IL-1R1 and IL-1RN) in primary knee osteoarthritis in Indonesia.
Tuberculosis alters immune-metabolic pathways resulting in perturbed IL-1 responses.
Title: Tuberculosis alters immune-metabolic pathways resulting in perturbed IL-1 responses.

Submit: New GeneRIF Correction See all GeneRIFs (561)

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

Associated conditions

Description	Tests
Gastric cancer MedGen: C0024623 OMIM: 613659 GeneReviews: Not available	Compare labs
Microvascular complications of diabetes, susceptibility to, 4 MedGen: C2675112 OMIM: 612628 GeneReviews: Not available	Compare labs
Sterile multifocal osteomyelitis with periostitis and pustulosis MedGen: C2748507 OMIM: 612852 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of interleukin 1 receptor antagonist (IL1RN) in human B cells	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of IL-1 receptor antagonist through binding to and inhibiting CD26	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

RH70911 (e-PCR)
- UniSTS:49464

IL1RN_3322 (e-PCR)
- UniSTS:464497

RH17495 (e-PCR)
- UniSTS:72357

WI-13878 (e-PCR)
- UniSTS:50108

RH11709 (e-PCR)
- UniSTS:61635

GDB:204180 (e-PCR)
- UniSTS:156109

D2S2718 (e-PCR)
- UniSTS:36581

GDB:182560 (e-PCR)
- UniSTS:155391

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables interleukin-1 receptor antagonist activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-1 receptor antagonist activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-1 receptor antagonist activity	TAS Traceable Author Statement more info	PubMed
enables interleukin-1 receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-1 type I receptor antagonist activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-1 type II receptor antagonist activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-1, type I receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-1, type II receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-1-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-1-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in response to glucocorticoid	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	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 antagonist protein

Names: IL1 inhibitor; intracellular IL-1 receptor antagonist type II; intracellular interleukin-1 receptor antagonist (icIL-1ra); type II interleukin-1 receptor antagonist

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.

Genomic

NG_021240.1 RefSeqGene

Range

5001..21124

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_188

mRNA and Protein(s)

NM_000577.5 → NP_000568.1 interleukin-1 receptor antagonist protein isoform 3

See identical proteins and their annotated locations for NP_000568.1

Status: REVIEWED

Source sequence(s)

AC024704, BC009745, M55646

Consensus CDS

CCDS2113.1

UniProtKB/Swiss-Prot

P18510

Related

ENSP00000329072.3, ENST00000354115.6

Conserved Domains (1) summary

smart00125
Location:16 → 156

IL1; Interleukin-1 homologues
NM_001318914.2 → NP_001305843.1 interleukin-1 receptor antagonist protein isoform 4

Status: REVIEWED

Source sequence(s)

AC024704, AF043143, BC009745, DA667440

Consensus CDS

CCDS2115.1

Related

ENSP00000512949.1, ENST00000696881.1

Conserved Domains (1) summary

smart00125
Location:1 → 140

IL1; Interleukin-1 homologues
NM_001379360.1 → NP_001366289.1 interleukin-1 receptor antagonist protein isoform 4

Status: REVIEWED

Source sequence(s)

AC024704

Consensus CDS

CCDS2115.1

Related

ENSP00000512947.1, ENST00000696879.1

Conserved Domains (1) summary

smart00125
Location:1 → 140

IL1; Interleukin-1 homologues
NM_173841.3 → NP_776213.1 interleukin-1 receptor antagonist protein isoform 2

See identical proteins and their annotated locations for NP_776213.1

Status: REVIEWED

Source sequence(s)

AC024704

Consensus CDS

CCDS2114.1

UniProtKB/Swiss-Prot

P18510

Related

ENSP00000259206.5, ENST00000259206.9

Conserved Domains (1) summary

smart00125
Location:37 → 177

IL1; Interleukin-1 homologues
NM_173842.3 → NP_776214.1 interleukin-1 receptor antagonist protein isoform 1 precursor

See identical proteins and their annotated locations for NP_776214.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' end compared to variant 2, resulting in an isoform (1) that has a distinct and shorter N-terminus, as compared to the longest isoform (2).

Source sequence(s)

AC024704, BC009745, BI766516

Consensus CDS

CCDS46396.1

UniProtKB/Swiss-Prot

A8K4G1, P18510, Q14628, Q53SC2, Q7RTZ4, Q96GD6, Q9UPC0

Related

ENSP00000387173.3, ENST00000409930.4

Conserved Domains (1) summary

smart00125
Location:34 → 174

IL1; Interleukin-1 homologues
NM_173843.3 → NP_776215.1 interleukin-1 receptor antagonist protein isoform 4

See identical proteins and their annotated locations for NP_776215.1

Status: REVIEWED

Source sequence(s)

AC024704, AF043143, BC009745

Consensus CDS

CCDS2115.1

Related

ENSP00000354816.3, ENST00000361779.7

Conserved Domains (1) summary

smart00125
Location:1 → 140

IL1; Interleukin-1 homologues