IL1R1 Gene (Protein Coding)

Interleukin 1 Receptor Type 1

GC02P102136
GIFtS:
46
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 chro... See more...

Aliases for IL1R1 Gene

Aliases for IL1R1 Gene

  • Interleukin 1 Receptor Type 1 2 3 5
  • CD121 Antigen-Like Family Member A 3 4
  • Interleukin-1 Receptor Type 1 3 4
  • Interleukin-1 Receptor Type I 3 4
  • Interleukin-1 Receptor Alpha 3 4
  • IL-1R-Alpha 3 4
  • IL-1RT-1 3 4
  • D2S1473 2 3
  • IL-1R-1 3 4
  • IL-1RT1 3 4
  • CD121A 2 3
  • IL1RA 3 4
  • IL1R 3 4
  • P80 3 4
  • Interleukin 1 Receptor Alpha, Type I 3
  • Interleukin-1 Receptor, Type I 2
  • Interleukin 1 Receptor, Type I 2
  • CD121a Antigen 4
  • EC 3.2.2.6 4
  • IL1RT1 4
  • IL1R1 5

External Ids for IL1R1 Gene

Previous HGNC Symbols for IL1R1 Gene

  • IL1R
  • IL1RA

Previous GeneCards Identifiers for IL1R1 Gene

  • GC02P100634
  • GC02P101223
  • GC02P102285
  • GC02P102391
  • GC02P102228
  • GC02P102125
  • GC02P102053
  • GC02P102681
  • GC02P096534

Summaries for IL1R1 Gene

Entrez Gene Summary for IL1R1 Gene

  • 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]

GeneCards Summary for IL1R1 Gene

IL1R1 (Interleukin 1 Receptor Type 1) is a Protein Coding gene. Diseases associated with IL1R1 include Schnitzler Syndrome and Cinca Syndrome. Among its related pathways are IL-1 signaling pathway and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and protease binding. An important paralog of this gene is IL1RL2.

UniProtKB/Swiss-Prot Summary for IL1R1 Gene

  • Receptor for IL1A, IL1B and IL1RN. 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 of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850).

Tocris Summary for IL1R1 Gene

  • Cytokines are proteinaceous signaling compounds that are major mediators of the immune response. They control many different cellular functions including proliferation, differentiation and cell survival/apoptosis but are also involved in several pathophysiological processes.

Gene Wiki entry for IL1R1 Gene

Additional gene information for IL1R1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL1R1 Gene

Genomics for IL1R1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IL1R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL1R1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL1R1

Top Transcription factor binding sites by QIAGEN in the IL1R1 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • GATA-1
  • GR
  • GR-alpha
  • IRF-7A
  • MyoD

Genomic Locations for IL1R1 Gene

Latest Assembly
chr2:102,064,544-102,179,874
(GRCh38/hg38)
Size:
115,331 bases
Orientation:
Plus strand

Previous Assembly
chr2:102,686,850-102,796,334
(GRCh37/hg19 by Entrez Gene)
Size:
109,485 bases
Orientation:
Plus strand

chr2:102,681,004-102,796,334
(GRCh37/hg19 by Ensembl)
Size:
115,331 bases
Orientation:
Plus strand

Genomic View for IL1R1 Gene

Genes around IL1R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL1R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL1R1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IL1R1 Gene

Proteins for IL1R1 Gene

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  • Protein details for IL1R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14778-IL1R1_HUMAN
    Recommended name:
    Interleukin-1 receptor type 1
    Protein Accession:
    P14778
    Secondary Accessions:
    • Q587I7

    Protein attributes for IL1R1 Gene

    Size:
    569 amino acids
    Molecular mass:
    65402 Da
    Quaternary structure:
    • The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP. Interacts with PIK3R1.

    Three dimensional structures from OCA and Proteopedia for IL1R1 Gene

neXtProt entry for IL1R1 Gene

Protein Expression for IL1R1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IL1R1 Gene

  • A soluble form (sIL1R1) is probably produced by proteolytic cleavage at the cell surface (shedding).
  • Rapidly phosphorylated on Tyr-496 in response to IL-1, which creates a SH2 binding site for the PI 3-kinase regulatory subunit PIK3R1.
  • Glycosylation at Asn100, Asn193, Asn233, Asn249, Asn263, and Asn297
  • Modification sites at PhosphoSitePlus

Other Protein References for IL1R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for IL1R1 Gene

Domains & Families for IL1R1 Gene

Gene Families for IL1R1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for IL1R1 Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
  • Interleukin-1 receptor type I and type II family signature
  • Interleukin-1 receptor type I family signature
  • Interleukin-1 receptor type I precursor signature
ProtoNet:

Suggested Antigen Peptide Sequences for IL1R1 Gene

GenScript: Design optimal peptide antigens:
  • p80 (IL1R1_HUMAN)
  • Interleukin 1 receptor, type I (Q6NWP5_HUMAN)
  • Interleukin 1 receptor, type I (Q6NWP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14778

UniProtKB/Swiss-Prot:

IL1R1_HUMAN :
  • The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
  • Belongs to the interleukin-1 receptor family.
Domain:
  • The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
Family:
  • Belongs to the interleukin-1 receptor family.
genes like me logo Genes that share domains with IL1R1: view

Function for IL1R1 Gene

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Molecular function for IL1R1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for IL1A, IL1B and IL1RN. 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 of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide; Xref=Rhea:RHEA:16301, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:57540, ChEBI:CHEBI:57967; EC=3.2.2.6; Evidence={ECO:0000255|PROSITE-ProRule:PRU00204};.
GENATLAS Biochemistry:
interleukin 1,receptor type 1,high affinity,expressed in T cell and fibroblast,with two alternatively spliced isoforms,secreted and cytoplasmic,forming a complex after induction of IL1 and recruitment of IRAK through its association with IL1RAP

Enzyme Numbers (IUBMB) for IL1R1 Gene

Phenotypes From GWAS Catalog for IL1R1 Gene

Gene Ontology (GO) - Molecular Function for IL1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0004888 transmembrane signaling receptor activity TAS 2530587
GO:0004908 interleukin-1 receptor activity IEA,IDA 10383454
GO:0004909 interleukin-1, type I, activating receptor activity IEA --
GO:0005161 platelet-derived growth factor receptor binding IPI 16477012
genes like me logo Genes that share ontologies with IL1R1: view
genes like me logo Genes that share phenotypes with IL1R1: view

Animal Models for IL1R1 Gene

MGI Knock Outs for IL1R1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL1R1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IL1R1 Gene

Localization for IL1R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL1R1 Gene

Membrane. Single-pass type I membrane protein. Cell membrane. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL1R1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 3
endoplasmic reticulum 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2530587
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with IL1R1: view

Pathways & Interactions for IL1R1 Gene

PathCards logo

SuperPathways for IL1R1 Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Glucocorticoid Receptor Signaling
.43
Cytokine-cytokine receptor interaction
.43
2 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
3 IL-1 signaling pathway
IL-1 signaling pathway
.51
Structural Pathway of Interleukin 1 (IL-1)
.51
Interleukin-1 signaling
.41
IL1-mediated signaling events
.40
4 Toll-Like receptor Signaling Pathways
Inflammasome Activation Pathways
.51
IL-1 Family Signaling Pathways
.43
Immune response IL-1 signaling pathway
.41
5 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
genes like me logo Genes that share pathways with IL1R1: view

Pathways by source for IL1R1 Gene

6 GeneGo (Thomson Reuters) pathways for IL1R1 Gene
  • Bacterial infections in CF airways
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
  • IL-1 beta-dependent CFTR expression
  • Immune response Bacterial infections in normal airways
  • Immune response IL-1 signaling pathway
3 Tocris pathways for IL1R1 Gene
21 Qiagen pathways for IL1R1 Gene
  • 14-3-3 Induced Apoptosis
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Glucocorticoid Receptor Signaling
  • HMGB1 Pathway

SIGNOR curated interactions for IL1R1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IL1R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0006955 immune response TAS 9120302
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway TAS 1833184
GO:0019221 cytokine-mediated signaling pathway IEA,TAS --
genes like me logo Genes that share ontologies with IL1R1: view

Drugs & Compounds for IL1R1 Gene

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(87) Drugs for IL1R1 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anakinra Approved Pharma Target, antagonist IL-1 receptor antagonist 0
Foreskin fibroblast (neonatal) Approved Pharma Target, agonist 0
OMS-103HP Investigational Pharma Target 0
SD118 Investigational Pharma Target 0
AF 12198 Pharma Type I IL-1 receptor antagonist, Potent, selective human type I IL-1 receptor antagonist 0

(47) Additional Compounds for IL1R1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lyn peptide inhibitor
222018-18-0
R 7050
303997-35-5

(5) Tocris Compounds for IL1R1 Gene

Compound Action Cas Number
AF 12198 Potent, selective human type I IL-1 receptor antagonist 185413-30-3
Lyn peptide inhibitor Inhibits Lyn-dependent activities of IL-5 receptor; cell-permeable 222018-18-0
R 7050 Inhibitor of TNF-alpha receptor 1 signaling 303997-35-5
Ro 26-4550 trifluoroacetate Competitive inhibitor of IL-2/ IL-2Ralpha receptor interaction 1217448-66-2
YM 90709 Interleukin-5 receptor antagonist 163769-88-8

(4) ApexBio Compounds for IL1R1 Gene

Compound Action Cas Number
AF 12198 Type I IL-1 receptor antagonist 185413-30-3
Dexamethasone Sodium Phosphate 55203-24-2
Ro 26-4550 trifluoroacetate reversible inhibitor of interleukin-2 (IL-2) binding to its receptor 1217448-66-2
YM 90709 163769-88-8
genes like me logo Genes that share compounds with IL1R1: view

Transcripts for IL1R1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for IL1R1 Gene

10 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL1R1

Alternative Splicing Database (ASD) splice patterns (SP) for IL1R1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: -
SP7:

Relevant External Links for IL1R1 Gene

GeneLoc Exon Structure for
IL1R1

Expression for IL1R1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL1R1 Gene

mRNA expression in normal human tissues for IL1R1 Gene
mRNA expression by GTEx for IL1R1 GenemRNA expression by BioGPS for IL1R1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IL1R1 Gene

This gene is overexpressed in Placenta (47.2), Liver (14.3), and Gallbladder (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL1R1 Gene



Protein tissue co-expression partners for IL1R1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL1R1

SOURCE GeneReport for Unigene cluster for IL1R1 Gene:

Hs.701982

mRNA Expression by UniProt/SwissProt for IL1R1 Gene:

P14778-IL1R1_HUMAN
Tissue specificity: Expressed in T-helper cell subsets. Preferentially expressed in T-helper 1 (Th1) cells.

Evidence on tissue expression from TISSUES for IL1R1 Gene

  • Liver(4.6)
  • Blood(4.6)
  • Nervous system(4.6)
  • Spleen(3.3)
  • Lung(3.1)
  • Heart(3.1)
  • Intestine(3.1)
  • Lymph node(3)
  • Skin(2.9)
  • Kidney(2.7)
  • Bone marrow(2.7)
  • Muscle(2.6)
  • Adrenal gland(2.6)
  • Pancreas(2.4)
  • Stomach(2.3)
  • Gall bladder(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with IL1R1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IL1R1 Gene

Orthologs for IL1R1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL1R1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IL1R1 30 31
  • 98.87 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IL1R1 30 31
  • 84.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IL1R1 30 31
  • 79.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Il1r1 30 17 31
  • 75.41 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Il1r1 30
  • 75 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia IL1R1 31
  • 52 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia IL1R1 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IL1RL2 30
  • 57.94 (n)
IL1R1 31
  • 41 (a)
 ManyToMany
-- 31
  • 31 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 39 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia il1r1 30
  • 53.83 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC799204 30
  • 44.18 (n)
CABZ01054965.1 31
  • 25 (a)
 ManyToMany
CABZ01054962.1 31
  • 25 (a)
 ManyToMany
Species where no ortholog for IL1R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IL1R1 Gene

ENSEMBL:
Gene Tree for IL1R1 (if available)
TreeFam:
Gene Tree for IL1R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL1R1: view image

Paralogs for IL1R1 Gene

Paralogs for IL1R1 Gene

(3) SIMAP similar genes for IL1R1 Gene using alignment to 13 proteins:

  • IL1R1_HUMAN
  • B8ZZ73_HUMAN
  • B8ZZW4_HUMAN
  • B9A040_HUMAN
  • C9J3W8_HUMAN
  • C9J686_HUMAN
  • C9JQ36_HUMAN
  • C9JW84_HUMAN
  • C9JWB2_HUMAN
  • F8WF92_HUMAN
  • H7BZM5_HUMAN
  • Q6NWP5_HUMAN
  • Q6NWP6_HUMAN
genes like me logo Genes that share paralogs with IL1R1: view

Variants for IL1R1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL1R1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs113665542 Benign: not provided 102,175,500(+) C/T
NM_000877.4(IL1R1):c.1158C>T (p.Asp386=) 		SYNONYMOUS_VARIANT,INTRON
rs115796194 Benign: not provided 102,171,877(+) A/G
NM_000877.4(IL1R1):c.798A>G (p.Val266=) 		SYNONYMOUS
rs374920040 Likely Benign: not provided 102,171,841(+) G/A
NM_000877.4(IL1R1):c.762G>A (p.Leu254=) 		SYNONYMOUS
rs376163784 Benign: not provided 102,176,723(+) GA/G
NM_000877.4(IL1R1):c.1677del (p.Lys559fs) 		FRAMESHIFT
rs2228139 - p.Ala124Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IL1R1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IL1R1 Gene

Variant ID Type Subtype PubMed ID
dgv6981n54 CNV loss 21841781
esv2483943 CNV deletion 19546169
esv25260 CNV loss 19812545
esv3591781 CNV loss 21293372
esv3591783 CNV loss 21293372
nsv2852 CNV deletion 18451855
nsv458718 CNV loss 19166990
nsv518990 CNV gain 19592680

Variation tolerance for IL1R1 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL1R1 Gene

Human Gene Mutation Database (HGMD)
IL1R1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL1R1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL1R1 Gene

Disorders for IL1R1 Gene

MalaCards: The human disease database

(74) MalaCards diseases for IL1R1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
schnitzler syndrome
  • chronic urticaria with gammapathy
cinca syndrome
  • cinca
aseptic meningitis
  • acute aseptic meningitis
adult-onset still's disease
  • adult onset still's disease
juvenile rheumatoid arthritis
  • acute juvenile rheumatoid arthritis
- elite association - COSMIC cancer census association via MalaCards
Search IL1R1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IL1R1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IL1R1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL1R1 Gene

Publications for IL1R1 Gene

  1. Graves' ophthalmopathy and gene polymorphisms in interleukin-1alpha, interleukin-1beta, interleukin-1 receptor and interleukin-1 receptor antagonist. (PMID: 19702713) Khalilzadeh O … Amirzargar A (Clinical & experimental ophthalmology 2009) 3 23 41
  2. Retinopathy and nephropathy in type 1 diabetic patients--association with polymorphysms of vitamin D-receptor, TNF, Neuro-D and IL-1 receptor 1 genes. (PMID: 20120526) Bućan K … Znaor L (Collegium antropologicum 2009) 3 23 41
  3. Cytokine gene polymorphisms and BALF cytokine levels in interstitial lung diseases. (PMID: 19117745) Vasakova M … Striz I (Respiratory medicine 2009) 3 23 41
  4. Effect of desensitization in solid organ transplant recipients depends on some cytokines genes polymorphism. (PMID: 19332120) Lobashevsky AL … Turrentine MW (Transplant immunology 2009) 3 23 41
  5. Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. (PMID: 19076825) Rezaei N … Aghamohammadi A (Clinical and experimental immunology 2009) 3 23 41

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