Interleukin 12 receptor, beta 1 subunit
An Error has occurred retrieving Wikidata item for infobox Interleukin-12 receptor, beta 1, or IL-12Rβ1 in short, is a subunit of the interleukin 12 receptor and the interleukin 23 receptor. IL12RB1, is the name of its human gene.[1] IL-12Rβ1 is also known as CD212 (cluster of differentiation 212). The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukin-12 (IL-12) with a low affinity, and is part of the IL-12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL-12 binding activity. The coexpression of this and IL-12Rβ2 protein was shown to lead to the formation of high-affinity IL-12 binding sites and reconstitution of IL-12 dependent signaling. IL-12Rβ1 can also bind interleukin-23 (IL-23) as part of the IL-23 receptor complex. This complex forms a disulfide-linked oligomer, which is required for its IL-23 binding activity. The coexpression of this and IL-23R protein was shown to lead to the formation of IL-23 binding sites. Various mutations in this gene were found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections.[2] Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.[1] All mutations known in the IL12RB1 gene, as well as many polymorphisms, have been collected in a mutation database [3][4]
References
- ↑ 1.0 1.1 "Entrez Gene: IL12RB1 interleukin 12 receptor, beta 1".
- ↑ "OMIM Entry - # 614891 - IMMUNODEFICIENCY 30; IMD30". omim.org.
- ↑ "The IL12RB1 gene homepage - Global Variome shared LOVD".
- ↑ van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, et al. (October 2013). "IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database". Human Mutation. 34 (10): 1329–1339. doi:10.1002/humu.22380. PMC 4104692. PMID 23864330.
Further reading
- van de Vosse E, Lichtenauer-Kaligis EG, van Dissel JT, Ottenhoff TH (March 2003). "Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function". Immunogenetics. 54 (12): 817–829. doi:10.1007/s00251-002-0534-9. PMID 12671732. S2CID 34119140.
- Ling P, Gately MK, Gubler U, Stern AS, Lin P, Hollfelder K, et al. (January 1995). "Human IL-12 p40 homodimer binds to the IL-12 receptor but does not mediate biologic activity". Journal of Immunology. 154 (1): 116–127. doi:10.4049/jimmunol.154.1.116. PMID 7527811.
- Gillessen S, Carvajal D, Ling P, Podlaski FJ, Stremlo DL, Familletti PC, et al. (January 1995). "Mouse interleukin-12 (IL-12) p40 homodimer: a potent IL-12 antagonist". European Journal of Immunology. 25 (1): 200–206. doi:10.1002/eji.1830250133. PMID 7843232. S2CID 41702014.
- Chua AO, Chizzonite R, Desai BB, Truitt TP, Nunes P, Minetti LJ, et al. (July 1994). "Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130". Journal of Immunology. 153 (1): 128–136. doi:10.4049/jimmunol.153.1.128. PMID 7911493. S2CID 9211163.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Presky DH, Yang H, Minetti LJ, Chua AO, Nabavi N, Wu CY, et al. (November 1996). "A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits". Proceedings of the National Academy of Sciences of the United States of America. 93 (24): 14002–14007. Bibcode:1996PNAS...9314002P. doi:10.1073/pnas.93.24.14002. PMC 19484. PMID 8943050.
- Gubler U, Presky DH (October 1996). "Molecular biology of interleukin-12 receptors". Annals of the New York Academy of Sciences. 795 (1): 36–40. Bibcode:1996NYASA.795...36G. doi:10.1111/j.1749-6632.1996.tb52653.x. PMID 8958915. S2CID 84507162.
- Zou J, Presky DH, Wu CY, Gubler U (February 1997). "Differential associations between the cytoplasmic regions of the interleukin-12 receptor subunits beta1 and beta2 and JAK kinases". The Journal of Biological Chemistry. 272 (9): 6073–6077. doi:10.1074/jbc.272.9.6073. PMID 9038232.
- Yamamoto K, Kobayashi H, Miura O, Hirosawa S, Miyasaka N (1997). "Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1 and beta 2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization". Cytogenetics and Cell Genetics. 77 (3–4): 257–258. doi:10.1159/000134589. PMID 9284929.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Igarashi O, Yamane H, Imajoh-Ohmi S, Nariuchi H (February 1998). "IL-12 receptor (IL-12R) expression and accumulation of IL-12R beta 1 and IL-12R beta 2 mRNAs in CD4+ T cells by costimulation with B7-2 molecules". Journal of Immunology. 160 (4): 1638–1646. doi:10.4049/jimmunol.160.4.1638. PMID 9469420.
- de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, et al. (May 1998). "Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients". Science. 280 (5368): 1435–1438. Bibcode:1998Sci...280.1435D. doi:10.1126/science.280.5368.1435. PMID 9603733.
- Kawashima T, Kawasaki H, Kitamura T, Nojima Y, Morimoto C (May 1998). "Interleukin-12 induces tyrosine phosphorylation of an 85-kDa protein associated with the interleukin-12 receptor beta 1 subunit". Cellular Immunology. 186 (1): 39–44. doi:10.1006/cimm.1998.1294. PMID 9637763.
- Yao BB, Niu P, Surowy CS, Faltynek CR (August 1999). "Direct interaction of STAT4 with the IL-12 receptor". Archives of Biochemistry and Biophysics. 368 (1): 147–155. doi:10.1006/abbi.1999.1302. PMID 10415122.
- Oppmann B, Lesley R, Blom B, Timans JC, Xu Y, Hunte B, et al. (November 2000). "Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12". Immunity. 13 (5): 715–725. doi:10.1016/S1074-7613(00)00070-4. PMID 11114383.
- Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, et al. (July 2001). "Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis". The Journal of Infectious Diseases. 184 (2): 231–236. doi:10.1086/321999. PMID 11424023.
- Losana G, Rigamonti L, Borghi I, Assenzio B, Ariotti S, Jouanguy E, et al. (March 2002). "Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells". European Journal of Immunology. 32 (3): 693–700. doi:10.1002/1521-4141(200203)32:3<693::AID-IMMU693>3.0.CO;2-Q. PMID 11857344. S2CID 83984408.
- Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J, et al. (June 2002). "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R". Journal of Immunology. 168 (11): 5699–5708. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
- Cleary AM, Tu W, Enright A, Giffon T, Dewaal-Malefyt R, Gutierrez K, et al. (January 2003). "Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency". Journal of Immunology. 170 (1): 597–603. doi:10.4049/jimmunol.170.1.597. PMID 12496448.
External links
- IL12RB1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
