Human Gene IL1RAP (ENST00000422485.5) from GENCODE V44
  Description: Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 2, mRNA. (from RefSeq NM_134470)
RefSeq Summary (NM_134470): This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018].
Gencode Transcript: ENST00000422485.5
Gencode Gene: ENSG00000196083.11
Transcript (Including UTRs)
   Position: hg38 chr3:190,514,098-190,630,285 Size: 116,188 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr3:190,564,290-190,629,518 Size: 65,229 Coding Exon Count: 7 

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 (chr3:190,514,098-190,630,285)mRNA (may differ from genome)Protein (356 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IL1AP_HUMAN
DESCRIPTION: RecName: Full=Interleukin-1 receptor accessory protein; Short=IL-1 receptor accessory protein; Short=IL-1RAcP; AltName: Full=Interleukin-1 receptor 3; Short=IL-1R-3; Short=IL-1R3; Flags: Precursor;
FUNCTION: Coreceptor with IL1R1. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B 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. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Secreted forms (isoforms 2 and 3) associate with secreted ligand-bound IL1R2 and increase the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors.
SUBUNIT: The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP. Associates with IL1R2 to form a non-signaling interleukin-1 receptor complex.
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted.
SUBCELLULAR LOCATION: Isoform 3: Secreted.
TISSUE SPECIFICITY: Detected in liver, skin, placenta, thymus and lung.
INDUCTION: Isoform 1 is down-regulated by phorbol ester treatment. Isoform 2 is induced by phorbol ester treatment.
SIMILARITY: Belongs to the interleukin-1 receptor family.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 TIR domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: IL1RAP
Diseases sorted by gene-association score: stromal keratitis (2), chromosome xp21 deletion syndrome (2)

-  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: 8.94 RPKM in Liver
Total median expression: 73.43 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 -61.40210-0.292 Picture PostScript Text
3' UTR -144.20767-0.188 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
IPR003599 - Ig_sub
IPR015621 - IL1-receptor_fam
IPR004075 - IL1_rcpt_1
IPR004074 - IL1_rcpt_I/II
IPR000157 - TIR_dom

Pfam Domains:
PF01582 - TIR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3O4O - X-ray MuPIT 4DEP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NPH3
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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
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:0002114 interleukin-33 receptor activity
GO:0004871 signal transducer activity
GO:0004908 interleukin-1 receptor activity
GO:1990782 protein tyrosine kinase binding

Biological Process:
GO:0002376 immune system process
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007165 signal transduction
GO:0019221 cytokine-mediated signaling pathway
GO:0032736 positive regulation of interleukin-13 production
GO:0032754 positive regulation of interleukin-5 production
GO:0038172 interleukin-33-mediated signaling pathway
GO:0042094 interleukin-2 biosynthetic process
GO:0045087 innate immune response
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051965 positive regulation of synapse assembly
GO:0065003 macromolecular complex assembly
GO:0070498 interleukin-1-mediated signaling pathway
GO:0072602 interleukin-4 secretion
GO:1900006 positive regulation of dendrite development
GO:2000778 positive regulation of interleukin-6 secretion

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK291669 - Homo sapiens cDNA FLJ77565 complete cds, highly similar to Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 1, mRNA.
BC053621 - Homo sapiens interleukin 1 receptor accessory protein, mRNA (cDNA clone MGC:61532 IMAGE:6160894), complete cds.
AF538732 - Homo sapiens clone L1 soluble interleukin-1 receptor accessory protein mRNA, complete cds; alternatively spliced.
AF538734 - Homo sapiens clone L2 soluble interleukin-1 receptor accessory protein mRNA, complete cds; alternatively spliced.
AB006537 - Homo sapiens mRNA for interleukin 1 receptor accessory protein, complete cds.
AF538730 - Homo sapiens clone G3K2 soluble interleukin-1 receptor accessory protein-beta mRNA, complete cds; alternatively spliced.
AF538731 - Homo sapiens clone G4K2 soluble interleukin-1 receptor accessory protein-beta mRNA, complete cds; alternatively spliced.
AF538733 - Homo sapiens clone G2K1 membrane bound interleukin-1 receptor accessory protein mRNA, complete cds; alternatively spliced.
EF591790 - Homo sapiens interleukin-1 receptor accessory protein transcript variant 3 (IL1RAP) mRNA, complete cds, alternatively spliced.
BC016141 - Homo sapiens cDNA clone IMAGE:3920152, containing frame-shift errors.
LP895457 - Sequence 321 from Patent EP3253886.
AF029213 - Homo sapiens IL-1 receptor accessory protein mRNA, complete cds.
CU691008 - Synthetic construct Homo sapiens gateway clone IMAGE:100021707 5' read IL1RAP mRNA.
HQ448120 - Synthetic construct Homo sapiens clone IMAGE:100071502; CCSB011926_01 interleukin 1 receptor accessory protein (IL1RAP) gene, encodes complete protein.
KJ891451 - Synthetic construct Homo sapiens clone ccsbBroadEn_00845 IL1RAP gene, encodes complete protein.
AF167343 - Homo sapiens soluble interleukin-1 receptor accessory protein (IL1RAP) mRNA, complete cds.
AB590677 - Synthetic construct DNA, clone: pFN21AB5987, Homo sapiens IL1RAP gene for interleukin 1 receptor accessory protein, without stop codon, in Flexi system.
HW259112 - JP 2013515479-A/10: Molecule for treating an inflammatory disorder.
JA470697 - Sequence 10 from Patent WO2011078672.
FJ998418 - Homo sapiens interleukin 1 receptor accessory protein variant AcPb (IL1RAP) mRNA, complete cds, alternatively spliced.
JD271367 - Sequence 252391 from Patent EP1572962.
JD488130 - Sequence 469154 from Patent EP1572962.
JD192017 - Sequence 173041 from Patent EP1572962.
JD407189 - Sequence 388213 from Patent EP1572962.
JD376487 - Sequence 357511 from Patent EP1572962.
AF487335 - Homo sapiens interleukin-1 receptor accessory protein beta mRNA, partial cds, alternatively spliced.
JD171231 - Sequence 152255 from Patent EP1572962.
JD289239 - Sequence 270263 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04210 - Apoptosis

BioCarta from NCI Cancer Genome Anatomy Project
h_il1rPathway - Signal transduction through IL1R

Reactome (by CSHL, EBI, and GO)

Protein Q9NPH3 (Reactome details) participates in the following event(s):

R-HSA-445752 Interleukin-1 receptor type 1: Interleukin 1 binds Interleukin-1 receptor accessory protein, membrane associated isoform
R-HSA-448603 IL33:IL1RL1 binds IL1RAP-1
R-HSA-6800380 PTPRD binds IL1RAP-1
R-HSA-8848314 IL36:IL1RL2 binds IL1RAP-1
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-9014843 Interleukin-33 signaling
R-HSA-388844 Receptor-type tyrosine-protein phosphatases
R-HSA-9014826 Interleukin-36 pathway
R-HSA-446652 Interleukin-1 family signaling
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-449147 Signaling by Interleukins
R-HSA-112316 Neuronal System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B1NLD0, C3orf13, D3DNW0, ENST00000422485.1, ENST00000422485.2, ENST00000422485.3, ENST00000422485.4, IL1AP_HUMAN, IL1R3, NM_134470, O14915, Q86WJ7, Q9NPH3, uc003fsk.1, uc003fsk.2, uc003fsk.3, uc003fsk.4
UCSC ID: ENST00000422485.5
RefSeq Accession: NM_134470
Protein: Q9NPH3 (aka IL1AP_HUMAN or ILAP_HUMAN)
CCDS: CCDS46982.1

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