ID:I12R1_HUMAN DESCRIPTION: RecName: Full=Interleukin-12 receptor subunit beta-1; Short=IL-12 receptor subunit beta-1; Short=IL-12R subunit beta-1; Short=IL-12R-beta-1; Short=IL-12RB1; AltName: Full=IL-12 receptor beta component; AltName: CD_antigen=CD212; Flags: Precursor; FUNCTION: Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade. SUBUNIT: Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor. Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. DISEASE: Defects in IL12RB1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. SIMILARITY: Belongs to the type I cytokine receptor family. Type 2 subfamily. SIMILARITY: Contains 5 fibronectin type-III domains. WEB RESOURCE: Name=IL12RB1base; Note=IL12RB1 mutation db; URL="http://bioinf.uta.fi/IL12RB1base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL12RB1"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il12rb1/";
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.
ModBase Predicted Comparative 3D Structure on P42701
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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.
Biological Process: GO:0001916 positive regulation of T cell mediated cytotoxicity GO:0002230 positive regulation of defense response to virus by host GO:0002827 positive regulation of T-helper 1 type immune response GO:0007165 signal transduction GO:0019221 cytokine-mediated signaling pathway GO:0032729 positive regulation of interferon-gamma production GO:0035722 interleukin-12-mediated signaling pathway GO:0038155 interleukin-23-mediated signaling pathway GO:0042104 positive regulation of activated T cell proliferation GO:0043382 positive regulation of memory T cell differentiation GO:0071346 cellular response to interferon-gamma GO:2000318 positive regulation of T-helper 17 type immune response GO:2000330 positive regulation of T-helper 17 cell lineage commitment
BioCarta from NCI Cancer Genome Anatomy Project h_no2il12Pathway - NO2-dependent IL 12 Pathway in NK cells h_nktPathway - Selective expression of chemokine receptors during T-cell polarization h_IL12Pathway - IL12 and Stat4 Dependent Signaling Pathway in Th1 Development h_th1th2Pathway - Th1/Th2 Differentiation
Reactome (by CSHL, EBI, and GO)
Protein P42701 (Reactome details) participates in the following event(s):
R-HSA-8950057 IL12RB1 binds TYK2 R-HSA-447252 IL12RB1:TYK2 binds IL12RB2:JAK2 R-HSA-447226 Interleukin-12 binds Interleukin-12 receptor R-HSA-8950128 Interleukin-12 dissociates from Interleukin-12 receptor R-HSA-8950364 IL23R in IL23:IL23 receptor complex is phosphorylated R-HSA-8950423 JAK2, TYK2 in IL12A:IL12RB1:TYK2:IL12B:IL12RB2:JAK2 are phosphorylated R-HSA-8950448 STAT4 binds to IL12RB2 in Interleukin-12 receptor complex R-HSA-9020591 Interleukin-12 signaling R-HSA-9020933 Interleukin-23 signaling R-HSA-447115 Interleukin-12 family signaling R-HSA-449147 Signaling by Interleukins R-HSA-1280215 Cytokine Signaling in Immune system R-HSA-168256 Immune System
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
