Human Gene IL1R1 (ENST00000410023.6_6) from GENCODE V47lift37
  Description: interleukin 1 receptor type 1, transcript variant 6 (from RefSeq NM_001320982.2)
Gencode Transcript: ENST00000410023.6_6
Gencode Gene: ENSG00000115594.12_17
Transcript (Including UTRs)
   Position: hg19 chr2:102,759,206-102,796,334 Size: 37,129 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr2:102,774,185-102,793,219 Size: 19,035 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:102,759,206-102,796,334)mRNA (may differ from genome)Protein (569 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IL1R1_HUMAN
DESCRIPTION: RecName: Full=Interleukin-1 receptor type 1; Short=IL-1R-1; Short=IL-1RT-1; Short=IL-1RT1; AltName: Full=CD121 antigen-like family member A; AltName: Full=Interleukin-1 receptor alpha; Short=IL-1R-alpha; AltName: Full=Interleukin-1 receptor type I; AltName: Full=p80; AltName: CD_antigen=CD121a; Contains: RecName: Full=Interleukin-1 receptor type 1, membrane form; Short=mIL-1R1; Short=mIL-1RI; Contains: RecName: Full=Interleukin-1 receptor type 1, soluble form; Short=sIL-1R1; Short=sIL-1RI; Flags: Precursor;
FUNCTION: Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the corecptor 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.
SUBUNIT: The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP.
INTERACTION: Q9Y4K3:TRAF6; NbExp=2; IntAct=EBI-525905, EBI-359276;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell membrane (Probable). Secreted.
PTM: A soluble form (sIL1R1) is probably produced by proteolytic cleavage at the cell surface (shedding).
SIMILARITY: Belongs to the interleukin-1 receptor family.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 TIR domain.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il1r1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IL1R1
Diseases sorted by gene-association score: schnitzler syndrome (27), cinca syndrome (15), paratyphoid fever (15), pyogenic arthritis, pyoderma gangrenosum and acne (13), adult-onset still's disease (12), vulvar vestibulitis syndrome (11), muckle-wells syndrome (10), rheumatic disease (10), raynaud disease (10), cryopyrin-associated periodic syndrome (9), cellulitis (9), cold urticaria (9), papilledema (9), familial cold-induced inflammatory syndrome 1 (9), rheumatoid arthritis, systemic juvenile (8), chorioamnionitis (8), aseptic meningitis (7), streptococcal meningitis (7), pyoderma (6), uveitis (6), familial cold autoinflammatory syndrome (6), post-transplant lymphoproliferative disease (6), pleuropneumonia (5), leukomalacia (5), joint disorders (5), wells syndrome (5), common cold (5), neisseria meningitidis infection (4), rheumatoid arthritis (2), asthma (2), focal epilepsy (2), obesity (2), autoinflammation, lipodystrophy, and dermatosis syndrome (2), eye disease (1), malaria (1), pulmonary fibrosis, idiopathic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 62.33 RPKM in Cells - Cultured fibroblasts
Total median expression: 847.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -180.80358-0.505 Picture PostScript Text
3' UTR -896.803115-0.288 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR015621 - IL1-receptor_fam
IPR004075 - IL1_rcpt_1
IPR004074 - IL1_rcpt_I/II
IPR004076 - IL1R_rcpt
IPR000157 - TIR_dom

Pfam Domains:
PF00047 - Immunoglobulin domain
PF01582 - TIR domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF18452 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
52200 - Toll/Interleukin receptor TIR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1G0Y - X-ray MuPIT 1IRA - X-ray MuPIT 1ITB - X-ray MuPIT 4DEP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P14778
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004908 interleukin-1 receptor activity
GO:0004909 interleukin-1, Type I, activating receptor activity
GO:0005161 platelet-derived growth factor receptor binding
GO:0005515 protein binding
GO:0019966 interleukin-1 binding

Biological Process:
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0019221 cytokine-mediated signaling pathway
GO:0050727 regulation of inflammatory response
GO:0070498 interleukin-1-mediated signaling pathway
GO:0070555 response to interleukin-1
GO:2000391 positive regulation of neutrophil extravasation
GO:2000661 positive regulation of interleukin-1-mediated signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LP896174 - Sequence 1038 from Patent EP3253886.
AK314433 - Homo sapiens cDNA, FLJ95226.
X16896 - Human mRNA for interleukin-1 receptor (fibroblast type).
M27492 - Human interleukin 1 receptor mRNA, complete cds.
BC067507 - Homo sapiens interleukin 1 receptor, type I, mRNA (cDNA clone MGC:79370 IMAGE:7002109), complete cds.
BC067508 - Homo sapiens interleukin 1 receptor, type I, mRNA (cDNA clone MGC:79371 IMAGE:7002111), complete cds.
BC067506 - Homo sapiens interleukin 1 receptor, type I, mRNA (cDNA clone MGC:79368 IMAGE:7002107), complete cds.
BC075062 - Homo sapiens interleukin 1 receptor, type I, mRNA (cDNA clone MGC:103968 IMAGE:30915370), complete cds.
BC075063 - Homo sapiens interleukin 1 receptor, type I, mRNA (cDNA clone MGC:104131 IMAGE:30915586), complete cds.
CU688310 - Synthetic construct Homo sapiens gateway clone IMAGE:100022990 5' read IL1R1 mRNA.
KJ891450 - Synthetic construct Homo sapiens clone ccsbBroadEn_00844 IL1R1 gene, encodes complete protein.
CS074519 - Sequence 382 from Patent WO2005033694.
CS074520 - Sequence 383 from Patent WO2005033694.
AK026803 - Homo sapiens cDNA: FLJ23150 fis, clone LNG09358.
JD380589 - Sequence 361613 from Patent EP1572962.
JD047223 - Sequence 28247 from Patent EP1572962.
JD334986 - Sequence 316010 from Patent EP1572962.
JD276795 - Sequence 257819 from Patent EP1572962.
JD044785 - Sequence 25809 from Patent EP1572962.
JD294079 - Sequence 275103 from Patent EP1572962.
JD341732 - Sequence 322756 from Patent EP1572962.
JD231529 - Sequence 212553 from Patent EP1572962.
JD556294 - Sequence 537318 from Patent EP1572962.
JD441379 - Sequence 422403 from Patent EP1572962.
JD329029 - Sequence 310053 from Patent EP1572962.
JD319177 - Sequence 300201 from Patent EP1572962.
JD417585 - Sequence 398609 from Patent EP1572962.
JD411817 - Sequence 392841 from Patent EP1572962.
JD051338 - Sequence 32362 from Patent EP1572962.
JD135713 - Sequence 116737 from Patent EP1572962.
JD238304 - Sequence 219328 from Patent EP1572962.
JD430388 - Sequence 411412 from Patent EP1572962.
JD529560 - Sequence 510584 from Patent EP1572962.
JD169951 - Sequence 150975 from Patent EP1572962.
JD169952 - Sequence 150976 from Patent EP1572962.
JD306657 - Sequence 287681 from Patent EP1572962.
JD306658 - Sequence 287682 from Patent EP1572962.
JD056400 - Sequence 37424 from Patent EP1572962.
JD447151 - Sequence 428175 from Patent EP1572962.
JD443454 - Sequence 424478 from Patent EP1572962.
JD139318 - Sequence 120342 from Patent EP1572962.
JD181634 - Sequence 162658 from Patent EP1572962.
JD081954 - Sequence 62978 from Patent EP1572962.
JD236121 - Sequence 217145 from Patent EP1572962.
JD565704 - Sequence 546728 from Patent EP1572962.
JD294398 - Sequence 275422 from Patent EP1572962.
JD277974 - Sequence 258998 from Patent EP1572962.
JD216309 - Sequence 197333 from Patent EP1572962.
JD209270 - Sequence 190294 from Patent EP1572962.
JD557607 - Sequence 538631 from Patent EP1572962.
JD369560 - Sequence 350584 from Patent EP1572962.
JD296158 - Sequence 277182 from Patent EP1572962.
JD215578 - Sequence 196602 from Patent EP1572962.
JD554300 - Sequence 535324 from Patent EP1572962.
JD359238 - Sequence 340262 from Patent EP1572962.
JD564146 - Sequence 545170 from Patent EP1572962.
JD318675 - Sequence 299699 from Patent EP1572962.
JD516701 - Sequence 497725 from Patent EP1572962.
JD299420 - Sequence 280444 from Patent EP1572962.
JD338042 - Sequence 319066 from Patent EP1572962.
JD213710 - Sequence 194734 from Patent EP1572962.
JD398298 - Sequence 379322 from Patent EP1572962.
JD090127 - Sequence 71151 from Patent EP1572962.
JD125053 - Sequence 106077 from Patent EP1572962.
JD464798 - Sequence 445822 from Patent EP1572962.
JD400113 - Sequence 381137 from Patent EP1572962.
JD423837 - Sequence 404861 from Patent EP1572962.
JD198986 - Sequence 180010 from Patent EP1572962.
JD321885 - Sequence 302909 from Patent EP1572962.
JD253581 - Sequence 234605 from Patent EP1572962.
JD152008 - Sequence 133032 from Patent EP1572962.
JD185504 - Sequence 166528 from Patent EP1572962.
JD148812 - Sequence 129836 from Patent EP1572962.
JD130087 - Sequence 111111 from Patent EP1572962.
JD137936 - Sequence 118960 from Patent EP1572962.
JD164019 - Sequence 145043 from Patent EP1572962.
JD555610 - Sequence 536634 from Patent EP1572962.
JD259386 - Sequence 240410 from Patent EP1572962.
JD539555 - Sequence 520579 from Patent EP1572962.
JD272623 - Sequence 253647 from Patent EP1572962.
JD480667 - Sequence 461691 from Patent EP1572962.
JD326950 - Sequence 307974 from Patent EP1572962.
JD452457 - Sequence 433481 from Patent EP1572962.
JD354895 - Sequence 335919 from Patent EP1572962.
JD036468 - Sequence 17492 from Patent EP1572962.
JD189465 - Sequence 170489 from Patent EP1572962.
JD228774 - Sequence 209798 from Patent EP1572962.
JD293893 - Sequence 274917 from Patent EP1572962.
JD537678 - Sequence 518702 from Patent EP1572962.
JD195643 - Sequence 176667 from Patent EP1572962.
JD273823 - Sequence 254847 from Patent EP1572962.
JD290179 - Sequence 271203 from Patent EP1572962.
JD051753 - Sequence 32777 from Patent EP1572962.
JD290916 - Sequence 271940 from Patent EP1572962.
JD076707 - Sequence 57731 from Patent EP1572962.
JD504986 - Sequence 486010 from Patent EP1572962.
JD309941 - Sequence 290965 from Patent EP1572962.
JD382445 - Sequence 363469 from Patent EP1572962.
JD526591 - Sequence 507615 from Patent EP1572962.
JD303200 - Sequence 284224 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_il1rPathway - Signal transduction through IL1R
h_nfkbPathway - NF-kB Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P14778 (Reactome details) participates in the following event(s):

R-HSA-445753 IL1B,Myr82K-Myr83K-IL1A:IL1R1
R-HSA-445752 Interleukin-1 receptor type 1: Interleukin 1 binds Interleukin-1 receptor accessory protein, membrane associated isoform
R-HSA-445757 IL1 receptor antagonist protein binds Interleukin 1 receptors
R-HSA-450133 IL1R1:IL1:IL1RAP binds MYD88 homodimer
R-HSA-446692 IRAK1 binds to MYD88 within the IL1R complex
R-HSA-446634 IRAK4 is activated by autophosphorylation
R-HSA-446648 IL1R1:IL1:IL1RAP:MYD88 homodimer binds IRAK4
R-HSA-446894 TRAF6 binding leads to IRAK1:TRAF6 release
R-HSA-446701 IRAK4-activated IRAK1 autophosphorylates
R-HSA-446694 IRAK4 phosphorylates IRAK1
R-HSA-446862 Hyperphosphorylated IRAK1 associates with TRAF6
R-HSA-446868 The Interleukin 1 receptor complex binds Tollip
R-HSA-9020702 Interleukin-1 signaling
R-HSA-6783783 Interleukin-10 signaling
R-HSA-446652 Interleukin-1 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000410023.1, ENST00000410023.2, ENST00000410023.3, ENST00000410023.4, ENST00000410023.5, IL1R, IL1R1_HUMAN, IL1RA, IL1RT1, NM_001320982, P14778, Q587I7, uc319gmf.1, uc319gmf.2
UCSC ID: ENST00000410023.6_6
RefSeq Accession: NM_000877.4
Protein: P14778 (aka IL1R1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.