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.[5] 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.[6] Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.[5]
All mutations known in the IL12RB1 gene, as well as many polymorphisms, have been collected in a mutation database [7][8]
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References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000096996 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000791 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "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, Garty BZ, Sun-Tan Ç, Broides A, De Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, Van Dissel JT, Bustamante J (2013). "IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation 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 (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): 817–29. doi:10.1007/s00251-002-0534-9. PMID 12671732. S2CID 34119140.
- Ling P, Gately MK, Gubler U, et al. (1995). "Human IL-12 p40 homodimer binds to the IL-12 receptor but does not mediate biologic activity". J. Immunol. 154 (1): 116–27. doi:10.4049/jimmunol.154.1.116. PMID 7527811.
- Gillessen S, Carvajal D, Ling P, et al. (1995). "Mouse interleukin-12 (IL-12) p40 homodimer: a potent IL-12 antagonist". Eur. J. Immunol. 25 (1): 200–6. doi:10.1002/eji.1830250133. PMID 7843232. S2CID 41702014.
- Chua AO, Chizzonite R, Desai BB, et al. (1994). "Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130". J. Immunol. 153 (1): 128–36. doi:10.4049/jimmunol.153.1.128. PMID 7911493. S2CID 9211163.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Presky DH, Yang H, Minetti LJ, et al. (1997). "A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits". Proc. Natl. Acad. Sci. U.S.A. 93 (24): 14002–7. Bibcode:1996PNAS...9314002P. doi:10.1073/pnas.93.24.14002. PMC 19484. PMID 8943050.
- Gubler U, Presky DH (1997). "Molecular biology of interleukin-12 receptors". Ann. N. Y. Acad. Sci. 795: 36–40. doi:10.1111/j.1749-6632.1996.tb52653.x. PMID 8958915. S2CID 84507162.
- Zou J, Presky DH, Wu CY, Gubler U (1997). "Differential associations between the cytoplasmic regions of the interleukin-12 receptor subunits beta1 and beta2 and JAK kinases". J. Biol. Chem. 272 (9): 6073–7. doi:10.1074/jbc.272.9.6073. PMID 9038232.
- Yamamoto K, Kobayashi H, Miura O, et al. (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". Cytogenet. Cell Genet. 77 (3–4): 257–8. doi:10.1159/000134589. PMID 9284929.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Igarashi O, Yamane H, Imajoh-Ohmi S, Nariuchi H (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". J. Immunol. 160 (4): 1638–46. doi:10.4049/jimmunol.160.4.1638. PMID 9469420.
- de Jong R, Altare F, Haagen IA, et al. (1998). "Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients". Science. 280 (5368): 1435–8. Bibcode:1998Sci...280.1435D. doi:10.1126/science.280.5368.1435. PMID 9603733.
- Kawashima T, Kawasaki H, Kitamura T, et al. (1998). "Interleukin-12 induces tyrosine phosphorylation of an 85-kDa protein associated with the interleukin-12 receptor beta 1 subunit". Cell. Immunol. 186 (1): 39–44. doi:10.1006/cimm.1998.1294. PMID 9637763.
- Yao BB, Niu P, Surowy CS, Faltynek CR (1999). "Direct interaction of STAT4 with the IL-12 receptor". Arch. Biochem. Biophys. 368 (1): 147–55. doi:10.1006/abbi.1999.1302. PMID 10415122.
- Oppmann B, Lesley R, Blom B, et al. (2001). "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): 715–25. doi:10.1016/S1074-7613(00)00070-4. PMID 11114383.
- Altare F, Ensser A, Breiman A, et al. (2001). "Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis". J. Infect. Dis. 184 (2): 231–6. doi:10.1086/321999. PMID 11424023.
- Losana G, Rigamonti L, Borghi I, et al. (2002). "Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells". Eur. J. Immunol. 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, et al. (2002). "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R". J. Immunol. 168 (11): 5699–708. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Cleary AM, Tu W, Enright A, et al. (2003). "Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency". J. Immunol. 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)
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This page was last edited on 2 April 2024, at 23:01