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    IL1RAP interleukin 1 receptor accessory protein [ Homo sapiens (human) ]

    Gene ID: 3556, updated on 3-Nov-2024

    Summary

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    Official Symbol
    IL1RAPprovided by HGNC
    Official Full Name
    interleukin 1 receptor accessory proteinprovided by HGNC
    Primary source
    HGNC:HGNC:5995
    See related
    Ensembl:ENSG00000196083 MIM:602626; AllianceGenome:HGNC:5995
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IL1R3; C3orf13; IL-1RAcP
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 11.2), placenta (RPKM 7.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IL1RAP in Genome Data Viewer
    Location:
    3q28
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (190514085..190659750)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (193330399..193476092)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (190231874..190377539)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15001 Neighboring gene claudin 16 Neighboring gene claudin 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:190080003-190080564 Neighboring gene Sharpr-MPRA regulatory region 3521 Neighboring gene Sharpr-MPRA regulatory region 14389 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:190158638-190158813 Neighboring gene transmembrane protein 207 Neighboring gene Sharpr-MPRA regulatory region 15127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:190232063-190232564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:190232565-190233064 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:190258615-190259497 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:190283646-190284845 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:190302729-190303262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:190303263-190303796 Neighboring gene NANOG hESC enhancer GRCh37_chr3:190363652-190364224 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 3 Neighboring gene RN7SK pseudogene 296 Neighboring gene long intergenic non-protein coding RNA 2013 Neighboring gene chaperonin containing TCP1 subunit 6 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS. Barreyro L, et al. Blood, 2012 Aug 9. PMID 22723552, Free PMC Article
    2. Expression of alternatively spliced interleukin-1 receptor accessory protein mRNAs is differentially regulated during inflammation and apoptosis. Jensen LE, et al. Cell Signal, 2003 Aug. PMID 12781872
    3. The 3' untranslated region of the membrane-bound IL-1R accessory protein mRNA confers tissue-specific destabilization. Jensen LE, et al. J Immunol, 2004 Nov 15. PMID 15528363
    4. Interleukin-1 receptor accessory protein is constitutively expressed in human endometrium throughout the menstrual cycle. Bigonnesse F, et al. Mol Hum Reprod, 2001 Apr. PMID 11279295
    5. Isolation and killing of candidate chronic myeloid leukemia stem cells by antibody targeting of IL-1 receptor accessory protein. Järås M, et al. Proc Natl Acad Sci U S A, 2010 Sep 14. PMID 20805474, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interleukin-1 receptor accessory protein blockade limits the development of atherosclerosis and reduces plaque inflammation.
      Title: Interleukin-1 receptor accessory protein blockade limits the development of atherosclerosis and reduces plaque inflammation.
    2. Interleukin-1 receptor accessory protein (IL-1RAP): A magic bullet candidate for immunotherapy of human malignancies.
      Title: Interleukin-1 receptor accessory protein (IL-1RAP): A magic bullet candidate for immunotherapy of human malignancies.
    3. Constitutive photomorphogenic protein 1 ubiquitinates interleukin-1 receptor accessory protein in human liver cancer.
      Title: Constitutive photomorphogenic protein 1 ubiquitinates interleukin-1 receptor accessory protein in human liver cancer.
    4. CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis.
      Title: CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis.
    5. IL1RAP is expressed in several subtypes of pediatric acute lymphoblastic leukemia and can be used as a target to eliminate ETV6::RUNX1-positive leukemia cells in preclinical models.
      Title: IL1RAP is expressed in several subtypes of pediatric acute lymphoblastic leukemia and can be used as a target to eliminate ETV6::RUNX1-positive leukemia cells in preclinical models.
    6. IL1RAP expression and the enrichment of IL-33 activation signatures in severe neutrophilic asthma.
      Title: IL1RAP expression and the enrichment of IL-33 activation signatures in severe neutrophilic asthma.
    7. Chimeric antigen receptor T-cells targeting IL-1RAP: a promising new cellular immunotherapy to treat acute myeloid leukemia.
      Title: Chimeric antigen receptor T-cells targeting IL-1RAP: a promising new cellular immunotherapy to treat acute myeloid leukemia.
    8. Novel IL1RAP mutation associated with schizophrenia interferes with neuronal growth and related NF-kappaB signal pathways.
      Title: Novel IL1RAP mutation associated with schizophrenia interferes with neuronal growth and related NF-κB signal pathways.
    9. Innate immune mediator, Interleukin-1 receptor accessory protein (IL1RAP), is expressed and pro-tumorigenic in pancreatic cancer.
      Title: Innate immune mediator, Interleukin-1 receptor accessory protein (IL1RAP), is expressed and pro-tumorigenic in pancreatic cancer.
    10. Proteomic Screens for Suppressors of Anoikis Identify IL1RAP as a Promising Surface Target in Ewing Sarcoma.
      Title: Proteomic Screens for Suppressors of Anoikis Identify IL1RAP as a Promising Surface Target in Ewing Sarcoma.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
    EBI GWAS Catalog
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ nucleosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NAD+ nucleotidase, cyclic ADP-ribose generating IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables coreceptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables interleukin-1 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables interleukin-33 receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interleukin-1-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-33-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-13 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-4 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-5 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of postsynaptic density assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of presynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic membrane adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in trans-synaptic signaling by trans-synaptic complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    interleukin-1 receptor accessory protein
    Names
    IL-1 receptor accessory protein
    interleukin-1 receptor 3
    interleukin-1 receptor accessory protein beta
    NP_001161400.1
    NP_001161401.1
    NP_001161402.1
    NP_001161403.1
    NP_001351808.1
    NP_001351809.1
    NP_001351810.1
    NP_002173.1
    NP_608273.1
    XP_016861837.1
    XP_047304037.1
    XP_047304038.1
    XP_047304039.1
    XP_047304040.1
    XP_047304041.1
    XP_047304042.1
    XP_054202423.1
    XP_054202424.1
    XP_054202425.1
    XP_054202426.1
    XP_054202427.1
    XP_054202428.1
    XP_054202429.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029105.2 RefSeqGene

      Range
      5035..142464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167928.2 → NP_001161400.1  interleukin-1 receptor accessory protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001161400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. It encodes the membrane-bound isoform (1).
      Source sequence(s)
      AB006537, AK291669, BG032519, BM194193, BM760155, BM973472
      Consensus CDS
      CCDS3298.1
      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3
      UniProtKB/TrEMBL
      A8K6K4
      Related
      ENSP00000401132.1, ENST00000439062.6
      Conserved Domains (3) summary
      pfam01582
      Location:405 → 546
      TIR; TIR domain
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    2. NM_001167929.2 → NP_001161401.1  interleukin-1 receptor accessory protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001161401.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. It encodes the membrane-bound isoform (1).
      Source sequence(s)
      AF538733, BM194193, BM973472, DA024801
      Consensus CDS
      CCDS3298.1
      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3
      UniProtKB/TrEMBL
      A8K6K4
      Related
      ENSP00000072516.3, ENST00000072516.7
      Conserved Domains (3) summary
      pfam01582
      Location:405 → 546
      TIR; TIR domain
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    3. NM_001167930.2 → NP_001161402.1  interleukin-1 receptor accessory protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_001161402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. It encodes the soluble isoform (2).
      Source sequence(s)
      AC008249, AF538732, DA024801
      Consensus CDS
      CCDS46982.1
      UniProtKB/Swiss-Prot
      Q9NPH3
      Related
      ENSP00000387371.1, ENST00000422940.5
      Conserved Domains (2) summary
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    4. NM_001167931.2 → NP_001161403.1  interleukin-1 receptor accessory protein isoform 3 precursor

      See identical proteins and their annotated locations for NP_001161403.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC108747, DA024801, DN990628, EF591790
      Consensus CDS
      CCDS54696.1
      UniProtKB/Swiss-Prot
      Q9NPH3
      Related
      ENSP00000314807.3, ENST00000317757.8
      Conserved Domains (4) summary
      smart00255
      Location:404 → 547
      TIR; Toll - interleukin 1 - resistance
      cd20931
      Location:243 → 349
      Ig3_IL1RAP; Third immunoglobulin domain of interleukin-1 receptor accessory protein (IL1RAP)
      cd20992
      Location:25 → 132
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R), and similar domains
      cd20993
      Location:143 → 235
      Ig2_IL-1RAP_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R), and similar domains

    5. NM_001364879.1 → NP_001351808.1  interleukin-1 receptor accessory protein isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008249, AC108747
      Consensus CDS
      CCDS54696.1
      Conserved Domains (4) summary
      smart00255
      Location:404 → 547
      TIR; Toll - interleukin 1 - resistance
      cd20931
      Location:243 → 349
      Ig3_IL1RAP; Third immunoglobulin domain of interleukin-1 receptor accessory protein (IL1RAP)
      cd20992
      Location:25 → 132
      Ig1_IL1R_like; First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R), and similar domains
      cd20993
      Location:143 → 235
      Ig2_IL-1RAP_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R), and similar domains

    6. NM_001364880.2 → NP_001351809.1  interleukin-1 receptor accessory protein isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008249, AC108747
      Conserved Domains (2) summary
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    7. NM_001364881.2 → NP_001351810.1  interleukin-1 receptor accessory protein isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008249, AC108747
      Consensus CDS
      CCDS3298.1
      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3
      UniProtKB/TrEMBL
      A8K6K4
      Conserved Domains (3) summary
      pfam01582
      Location:405 → 546
      TIR; TIR domain
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    8. NM_002182.4 → NP_002173.1  interleukin-1 receptor accessory protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_002173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the membrane-bound isoform (1).
      Source sequence(s)
      AB006537, BM194193, BM973472, DA024801
      Consensus CDS
      CCDS3298.1
      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3
      UniProtKB/TrEMBL
      A8K6K4
      Related
      ENSP00000390541.1, ENST00000447382.6
      Conserved Domains (3) summary
      pfam01582
      Location:405 → 546
      TIR; TIR domain
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    9. NM_134470.4 → NP_608273.1  interleukin-1 receptor accessory protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_608273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' end of the coding region and 3' UTR, compared to variant 1. It encodes the soluble isoform (2).
      Source sequence(s)
      AC008249, AF538734, BC053621, DA024801
      Consensus CDS
      CCDS46982.1
      UniProtKB/Swiss-Prot
      Q9NPH3
      Related
      ENSP00000409352.1, ENST00000422485.5
      Conserved Domains (2) summary
      pfam13927
      Location:242 → 335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:26 → 131
      Ig; Immunoglobulin domain

    RNA

    1. NR_157352.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC108747, AF538730, BM973472, HY121126
      Related
      ENST00000413869.5

    2. NR_157353.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC108747, AF538731, BM973472, HY121126
      Related
      ENST00000342550.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      190514085..190659750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448081.1 → XP_047304037.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    2. XM_047448084.1 → XP_047304040.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    3. XM_047448082.1 → XP_047304038.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    4. XM_047448083.1 → XP_047304039.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    5. XM_047448085.1 → XP_047304041.1  interleukin-1 receptor accessory protein isoform X2

    6. XM_047448086.1 → XP_047304042.1  interleukin-1 receptor accessory protein isoform X4

    7. XM_017006348.3 → XP_016861837.1  interleukin-1 receptor accessory protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      193330399..193476092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346448.1 → XP_054202423.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    2. XM_054346451.1 → XP_054202426.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    3. XM_054346449.1 → XP_054202424.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    4. XM_054346450.1 → XP_054202425.1  interleukin-1 receptor accessory protein isoform X1

      UniProtKB/Swiss-Prot
      B1NLD0, D3DNW0, O14915, Q86WJ7, Q9NPH3

    5. XM_054346452.1 → XP_054202427.1  interleukin-1 receptor accessory protein isoform X2

    6. XM_054346454.1 → XP_054202429.1  interleukin-1 receptor accessory protein isoform X4

    7. XM_054346453.1 → XP_054202428.1  interleukin-1 receptor accessory protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPH3.2 GenPept UniProtKB/Swiss-Prot:Q9NPH3

    Gene LinkOut

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