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    IL1R1 interleukin 1 receptor type 1 [ Homo sapiens (human) ]

    Gene ID: 3554, updated on 3-Dec-2024

    Summary

    Official Symbol
    IL1R1provided by HGNC
    Official Full Name
    interleukin 1 receptor type 1provided by HGNC
    Primary source
    HGNC:HGNC:5993
    See related
    Ensembl:ENSG00000115594 MIM:147810; AllianceGenome:HGNC:5993
    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
    P80; IL1R; CRMO3; IL1RA; CD121A; D2S1473; IL-1RT1; IL-1R-alpha
    Summary
    This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in gall bladder (RPKM 42.4), placenta (RPKM 40.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL1R1 in Genome Data Viewer
    Location:
    2q11.2-q12.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102070390..102179874)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (102528685..102638160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (102686850..102796334)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene interleukin 1 receptor type 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:102637443-102637636 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:102657879-102659078 Neighboring gene uncharacterized LOC107985926 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:102674234-102674816 Neighboring gene Sharpr-MPRA regulatory regions 1871 and 11985 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:102775959-102776153 Neighboring gene IL1R1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102803139-102803668 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:102813537-102814736 Neighboring gene interleukin 1 receptor like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102851302-102851802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102851803-102852303 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:102854175-102855374 Neighboring gene Sharpr-MPRA regulatory region 14071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:102867123-102867716 Neighboring gene CFAP144 pseudogene 2

    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

    Associated conditions

    Description Tests
    Chronic recurrent multifocal osteomyelitis 3
    MedGen: CN376807 OMIM: 259680 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genome-wide association study to identify genetic determinants of severe asthma.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS 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.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of IL-1RA in uninfected mononuclear cells 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

    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 binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables interleukin-1 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables interleukin-1 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables interleukin-1, type I, activating receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables platelet-derived growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity 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 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 membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-1 receptor type 1
    Names
    CD121 antigen-like family member A
    interleukin 1 receptor alpha, type I
    interleukin-1 receptor alpha
    interleukin-1 receptor type I
    NP_000868.1
    NP_001275635.1
    NP_001307907.1
    NP_001307909.1
    NP_001307910.1
    NP_001307911.1
    NP_001307912.1
    NP_001307913.1
    NP_001307914.1
    NP_001307915.1
    XP_005263987.1
    XP_005263991.1
    XP_011509417.1
    XP_011509418.1
    XP_011509420.1
    XP_047300132.1
    XP_047300133.1
    XP_047300134.1
    XP_047300135.1
    XP_047300136.1
    XP_047300137.1
    XP_047300138.1
    XP_047300139.1
    XP_054197786.1
    XP_054197787.1
    XP_054197788.1
    XP_054197789.1
    XP_054197790.1
    XP_054197791.1
    XP_054197792.1
    XP_054197793.1
    XP_054197794.1
    XP_054197795.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000877.4NP_000868.1  interleukin-1 receptor type 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000868.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is transcribed from a downstream promoter compared to variant 2.
      Source sequence(s)
      AC007271, AL548240, BE144272, BQ021163, HY092388, M27492
      Consensus CDS
      CCDS2055.1
      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Related
      ENSP00000386380.1, ENST00000410023.6
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    2. NM_001288706.2NP_001275635.1  interleukin-1 receptor type 1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AK314433, AL548240, BE144272, BQ021163, DA861783, M27492
      Consensus CDS
      CCDS74547.1
      UniProtKB/TrEMBL
      B8ZZW4, Q6NWP5
      Related
      ENSP00000386776.1, ENST00000409929.5
      Conserved Domains (5) summary
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      PHA02785
      Location:3320
      PHA02785; IL-beta-binding protein; Provisional
      smart00255
      Location:380509
      TIR; Toll - interleukin 1 - resistance
      cl11960
      Location:226327
      Ig; Immunoglobulin domain
    3. NM_001320978.2NP_001307907.1  interleukin-1 receptor type 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007271, AK314433, CB240976, M27492
      Consensus CDS
      CCDS2055.1
      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    4. NM_001320980.2NP_001307909.1  interleukin-1 receptor type 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is transcribed from a downstream promoter compared to variant 2.
      Source sequence(s)
      AC007271, AU136426, CB240976, DB226934, M27492
      Consensus CDS
      CCDS2055.1
      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    5. NM_001320981.2NP_001307910.1  interleukin-1 receptor type 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is transcribed from a downstream promoter compared to variant 2.
      Source sequence(s)
      AC007271, BX472731, CB240976, M27492
      Consensus CDS
      CCDS2055.1
      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    6. NM_001320982.2NP_001307911.1  interleukin-1 receptor type 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is transcribed from a downstream promoter compared to variant 2.
      Source sequence(s)
      AC007271, CB240976, DA333942, M27492
      Consensus CDS
      CCDS2055.1
      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    7. NM_001320983.1NP_001307912.1  interleukin-1 receptor type 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: The 5' UTR variation has not been determined for this transcript.
      Source sequence(s)
      AC007271, CB240976, CD013913, CD014140, M27492, X16896
      UniProtKB/Swiss-Prot
      P14778
      Conserved Domains (4) summary
      smart00255
      Location:240396
      TIR; Toll - interleukin 1 - resistance
      cd00096
      Location:1318
      Ig; Ig strand C [structural motif]
      cd20932
      Location:82185
      Ig3_IL1R_like; Third immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R), and similar domains
      cl11960
      Location:175
      Ig; Immunoglobulin domain
    8. NM_001320984.1NP_001307913.1  interleukin-1 receptor type 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: The 5' UTR variation has not been determined for this transcript.
      Source sequence(s)
      AC007271, CB240976, CD013912, M27492, X16896
      UniProtKB/Swiss-Prot
      P14778
      Conserved Domains (3) summary
      smart00255
      Location:201357
      TIR; Toll - interleukin 1 - resistance
      smart00410
      Location:51145
      IG_like; Immunoglobulin like
      cl11960
      Location:136
      Ig; Immunoglobulin domain
    9. NM_001320985.1NP_001307914.1  interleukin-1 receptor type 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: The 5' UTR variation has not been determined for this transcript.
      Source sequence(s)
      AC007271, CB240976, CD013913, M27492, X16896
      UniProtKB/Swiss-Prot
      P14778
      Conserved Domains (2) summary
      smart00255
      Location:149305
      TIR; Toll - interleukin 1 - resistance
      smart00410
      Location:193
      IG_like; Immunoglobulin like
    10. NM_001320986.2NP_001307915.1  interleukin-1 receptor type 1 isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) is transcribed from a downstream promoter compared to variant 2.
      Source sequence(s)
      AU136426, CA421991, DB226934
      UniProtKB/TrEMBL
      B9A040
      Related
      ENSP00000386555.1, ENST00000409589.5
      Conserved Domains (3) summary
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      smart00410
      Location:43103
      IG_like; Immunoglobulin like
      cl11960
      Location:128162
      Ig; Immunoglobulin domain

    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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      102070390..102179874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511115.3XP_011509417.1  interleukin-1 receptor type 1 isoform X1

      See identical proteins and their annotated locations for XP_011509417.1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    2. XM_011511116.2XP_011509418.1  interleukin-1 receptor type 1 isoform X1

      See identical proteins and their annotated locations for XP_011509418.1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    3. XM_005263930.4XP_005263987.1  interleukin-1 receptor type 1 isoform X1

      See identical proteins and their annotated locations for XP_005263987.1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    4. XM_047444179.1XP_047300135.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    5. XM_047444176.1XP_047300132.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    6. XM_047444177.1XP_047300133.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    7. XM_047444180.1XP_047300136.1  interleukin-1 receptor type 1 isoform X2

    8. XM_005263934.5XP_005263991.1  interleukin-1 receptor type 1 isoform X1

      See identical proteins and their annotated locations for XP_005263991.1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    9. XM_047444178.1XP_047300134.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    10. XM_047444181.1XP_047300137.1  interleukin-1 receptor type 1 isoform X2

    11. XM_047444183.1XP_047300139.1  interleukin-1 receptor type 1 isoform X2

    12. XM_011511118.3XP_011509420.1  interleukin-1 receptor type 1 isoform X1

      See identical proteins and their annotated locations for XP_011509420.1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
      Conserved Domains (4) summary
      smart00255
      Location:384540
      TIR; Toll - interleukin 1 - resistance
      smart00409
      Location:234328
      IG; Immunoglobulin
      cd05756
      Location:24113
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cd05757
      Location:128219
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    13. XM_047444182.1XP_047300138.1  interleukin-1 receptor type 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      102528685..102638160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341813.1XP_054197788.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    2. XM_054341812.1XP_054197787.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    3. XM_054341811.1XP_054197786.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    4. XM_054341817.1XP_054197792.1  interleukin-1 receptor type 1 isoform X2

    5. XM_054341814.1XP_054197789.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    6. XM_054341816.1XP_054197791.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    7. XM_054341818.1XP_054197793.1  interleukin-1 receptor type 1 isoform X2

    8. XM_054341820.1XP_054197795.1  interleukin-1 receptor type 1 isoform X2

    9. XM_054341815.1XP_054197790.1  interleukin-1 receptor type 1 isoform X1

      UniProtKB/Swiss-Prot
      P14778, Q587I7
      UniProtKB/TrEMBL
      Q6NWP5
    10. XM_054341819.1XP_054197794.1  interleukin-1 receptor type 1 isoform X2