Gene Gene information from NCBI Gene database.
Entrez ID 3554
Gene name Interleukin 1 receptor type 1
Gene symbol IL1R1
Synonyms (NCBI Gene)
CD121ACRMO3D2S1473IL-1R-alphaIL-1RT1IL1RIL1RAP80
Chromosome 2
Chromosome location 2q11.2-q12.1
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 cyt
miRNA miRNA information provided by mirtarbase database.
980
miRTarBase ID miRNA Experiments Reference
MIRT004217 hsa-miR-197-3p Microarray 16822819
MIRT023115 hsa-miR-124-3p Microarray 18668037
MIRT024405 hsa-miR-215-5p Microarray 19074876
MIRT026961 hsa-miR-192-5p Microarray 19074876
MIRT733021 hsa-miR-636 ELISALuciferase reporter assayqRT-PCRWestern blotting 31803183
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
STAT1 Unknown 15972639
STAT6 Activation 8757327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IEA
GO:0004888 Function Transmembrane signaling receptor activity TAS 2530587
GO:0004896 Function Cytokine receptor activity IEA
GO:0004908 Function Interleukin-1 receptor activity IBA
GO:0004908 Function Interleukin-1 receptor activity IDA 2950091, 10383454
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147810 5993 ENSG00000115594
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14778
Protein name Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (EC 3.2.2.6) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor typ
Protein function Receptor for IL1A, IL1B and IL1RN (PubMed:2950091, PubMed:37315560). After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation
PDB 1G0Y , 1IRA , 1ITB , 4DEP , 4GAF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18452 Ig_6 70 117 Immunoglobulin domain Domain
PF13895 Ig_2 121 213 Immunoglobulin domain Domain
PF01582 TIR 387 564 TIR domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in T-helper cell subsets. Preferentially expressed in T-helper 1 (Th1) cells. {ECO:0000269|PubMed:10653850}.
Sequence
MKVLLRLICFIALLISSLEADKCKEREEKIILVSSANEIDVRPCPLNPNEHKGTITWYKD
DSKTPVSTEQASRIHQHKEKLWFVPAKVEDSGHYYCVVRNSSYCLRIKISAKFVENEPNL
CYNAQAIFKQKLPVAGDGGLVCPYMEFFKNENNELPKLQWYKDCKPLLLDNIHFSGVKDR
LIVMNVAEKHRGNYTCHASYTYLGKQYPITRVI
EFITLEENKPTRPVIVSPANETMEVDL
GSQIQLICNVTGQLSDIAYWKWNGSVIDEDDPVLGEDYYSVENPANKRRSTLITVLNISE
IESRFYKHPFTCFAKNTHGIDAAYIQLIYPVTNFQKHMIGICVTLTVIIVCSVFIYKIFK
IDIVLWYRDSCYDFLPIKASDGKTYDAYILYPKTVGEGSTSDCDIFVFKVLPEVLEKQCG
YKLFIYGRDDYVGEDIVEVINENVKKSRRLIIILVRETSGFSWLGGSSEEQIAMYNALVQ
DGIKVVLLELEKIQDYEKMPESIKFIKQKHGAIRWSGDFTQGPQSAKTRFWKNVRYHMPV
QRRSPSSKHQLLSPATKEKLQREA
HVPLG
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Osteoclast differentiation
Hematopoietic cell lineage
Th17 cell differentiation
Inflammatory mediator regulation of TRP channels
Pathogenic Escherichia coli infection
Shigellosis
Amoebiasis
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Fluid shear stress and atherosclerosis
  Interleukin-10 signaling
Interleukin-1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Chronic recurrent multifocal osteomyelitis 3 Pathogenic rs2528521189 RCV004566075
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ascending aortic dissection association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor BEFREE 12218210
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 24818754
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23186989, 31018751, 37061663 Associate
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia Pubtator 37932834 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 22285486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 26941015
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 18500247
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis BEFREE 28456576
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 26521731, 28411044
★☆☆☆☆
Found in Text Mining only