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

Gene ID: 3554, updated on 27-Nov-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
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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)

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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)

  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
  5. XM_047444176.1XP_047300132.1  interleukin-1 receptor type 1 isoform X1

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

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

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

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

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