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

    Gene ID: 3557, updated on 15-Jun-2019

    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
    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; 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. 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, Jan 2016]
    Expression
    Biased expression in esophagus (RPKM 367.9), bone marrow (RPKM 53.9) and 2 other tissues See more
    Orthologs

    Genomic context

    See IL1RN in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (113099365..113134016)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113868693..113891593)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene interleukin 1 family member 10 Neighboring gene RNA, U6 small nuclear 1180, pseudogene Neighboring gene pleckstrin and Sec7 domain containing 4 Neighboring gene uncharacterized LOC107985935

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • 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...
    • IL1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL1-mediated signaling events, organism-specific biosystem
      IL1-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...
    • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
    • Interleukin-10 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-10 signaling, organism-specific biosystemInterleukin-10 (IL10) was originally described as a factor named cytokine synthesis inhibitory factor that inhibited T-helper (Th) 1 activation and Th1 cytokine production (Fiorentino et al. 1989). ...
    • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
      Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
    • 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...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10430

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-1 receptor antagonist activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-1 receptor antagonist activity TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-1 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    interleukin-1 type I receptor antagonist activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-1 type II receptor antagonist activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-1, type I receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-1, type II receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-1-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of heterotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-1-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to glucocorticoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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

    1. NG_021240.1 RefSeqGene

      Range
      5001..21124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_188

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000568.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an inframe coding segment, as compared to variant 2. The resulting isoform (3) lacks an internal region, as compared to the longest isoform (2).
      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:16156
      IL1; Interleukin-1 homologues
    2. NM_001318914.2NP_001305843.1  interleukin-1 receptor antagonist protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains two alternate internal exons compared to variant 2. This results in translation from a downstream start codon, and an isoform (4) that has a shorter N-terminus, as compared to the longest isoform (2). Variants 4 and 5 both encode the same isoform (4).
      Source sequence(s)
      AC024704, AF043143, BC009745, DA667440
      Consensus CDS
      CCDS2115.1
      UniProtKB/Swiss-Prot
      P18510
      UniProtKB/TrEMBL
      A0A024R528
      Conserved Domains (1) summary
      smart00125
      Location:1140
      IL1; Interleukin-1 homologues
    3. NM_173841.2NP_776213.1  interleukin-1 receptor antagonist protein isoform 2

      See identical proteins and their annotated locations for NP_776213.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AC024704, AF043143, AK290898, BC009745
      Consensus CDS
      CCDS2114.1
      UniProtKB/Swiss-Prot
      P18510
      Related
      ENSP00000259206.5, ENST00000259206.9
      Conserved Domains (1) summary
      smart00125
      Location:37177
      IL1; Interleukin-1 homologues
    4. NM_173842.3NP_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
      P18510
      Related
      ENSP00000387173.3, ENST00000409930.3
      Conserved Domains (1) summary
      smart00125
      Location:34174
      IL1; Interleukin-1 homologues
    5. NM_173843.3NP_776215.1  interleukin-1 receptor antagonist protein isoform 4

      See identical proteins and their annotated locations for NP_776215.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct internal exon compared to variant 2. This results in translation from a downstream start codon, and an isoform (4) that has a shorter N-terminus, as compared to the longest isoform (2). Variants 4 and 5 both encode the same isoform (4).
      Source sequence(s)
      AC024704, AF043143, BC009745
      Consensus CDS
      CCDS2115.1
      UniProtKB/Swiss-Prot
      P18510
      UniProtKB/TrEMBL
      A0A024R528
      Related
      ENSP00000354816.3, ENST00000361779.7
      Conserved Domains (1) summary
      smart00125
      Location:1140
      IL1; Interleukin-1 homologues

    RefSeqs of Annotated Genomes: Homo sapiens 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
      113099365..113134016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511121.1XP_011509423.1  interleukin-1 receptor antagonist protein isoform X1

      See identical proteins and their annotated locations for XP_011509423.1

      UniProtKB/Swiss-Prot
      P18510
      UniProtKB/TrEMBL
      A0A024R528
      Related
      ENSP00000387210.1, ENST00000409052.5
      Conserved Domains (1) summary
      smart00125
      Location:1140
      IL1; Interleukin-1 homologues
    2. XM_005263661.4XP_005263718.1  interleukin-1 receptor antagonist protein isoform X1

      See identical proteins and their annotated locations for XP_005263718.1

      UniProtKB/Swiss-Prot
      P18510
      UniProtKB/TrEMBL
      A0A024R528
      Conserved Domains (1) summary
      smart00125
      Location:1140
      IL1; Interleukin-1 homologues
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