Human Gene IL1R1 (ENST00000409929.5) from GENCODE V44
  Description: Homo sapiens interleukin 1 receptor type 1 (IL1R1), transcript variant 2, mRNA. (from RefSeq NM_001288706)
RefSeq Summary (NM_001288706): 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].
Gencode Transcript: ENST00000409929.5
Gencode Gene: ENSG00000115594.12
Transcript (Including UTRs)
   Position: hg38 chr2:102,070,376-102,176,759 Size: 106,384 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr2:102,157,725-102,176,759 Size: 19,035 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:102,070,376-102,176,759)mRNA (may differ from genome)Protein (538 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGImyGene2OMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B8ZZW4_HUMAN
DESCRIPTION: SubName: Full=Interleukin-1 receptor type 1, soluble form;
SIMILARITY: Contains 1 TIR domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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           more ... click here to view the complete list

-  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 -69.00241-0.286 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:
PF07679 - Immunoglobulin I-set domain
PF01582 - TIR domain

ModBase Predicted Comparative 3D Structure on B8ZZW4
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004908 interleukin-1 receptor activity
GO:0004909 interleukin-1, Type I, activating receptor activity

Biological Process:
GO:0007165 signal transduction
GO:0019221 cytokine-mediated signaling pathway
GO:0070498 interleukin-1-mediated signaling pathway

Cellular Component:
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.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04060 - Cytokine-cytokine receptor interaction
hsa04210 - Apoptosis
hsa04640 - Hematopoietic cell lineage

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

-  Other Names for This Gene
  Alternate Gene Symbols: B8ZZW4, B8ZZW4_HUMAN, ENST00000409929.1, ENST00000409929.2, ENST00000409929.3, ENST00000409929.4, NM_001288706, uc010fix.1, uc010fix.2, uc010fix.3, uc010fix.4
UCSC ID: ENST00000409929.5
RefSeq Accession: NM_001288706
Protein: B8ZZW4 CCDS: CCDS74547.1

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