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MGP001603

UniProt Annotations

Entry Information
Gene Nameinterleukin 1 receptor antagonist
Protein EntryIL1RA_HUMAN
UniProt IDP18510
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P18510-1; Sequence=Displayed; Name=2; Synonyms=icIL-1ra; IsoId=P18510-2; Sequence=VSP_002649; Name=3; Synonyms=icIL-1ra type II; IsoId=P18510-3; Sequence=VSP_002650; Name=4; IsoId=P18510-4; Sequence=VSP_002651;
DiseaseInterleukin 1 receptor antagonist deficiency (DIRA) [MIM:612852]: A rare autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells. {ECO:0000269|PubMed:19494218}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMicrovascular complications of diabetes 4 (MVCD4) [MIM:612628]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end- stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionInhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure. {ECO:0000269|PubMed:7775431}.
PharmaceuticalAvailable under the name Kineret (Amgen). Used for the reduction in signs and symptoms and slowing the progression of structural damage in moderately to severely active rheumatoid arthritis.
Subcellular LocationIsoform 1: Secreted.
Subcellular LocationIsoform 2: Cytoplasm.
Subcellular LocationIsoform 3: Cytoplasm.
Subcellular LocationIsoform 4: Cytoplasm.
Tissue SpecificityThe intracellular form of IL1RN is predominantly expressed in epithelial cells.
Web ResourceName=Kineret professional medical information"; URL="http://www.rxlist.com/kineret-drug.htm";
Web ResourceName=R&D Systems' cytokine source book: IL-1ra; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1637";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il1rn/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=IL1RN";
Web ResourceName=Wikipedia; Note=Interleukin-1 entry; URL="http://en.wikipedia.org/wiki/Interleukin_1";
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