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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]
↑Van De Vosse, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayşe; Garty, Ben Zion; Sun-Tan, Çağman; Broides, Arnon; De Paus, Roelof A; Keskin, Özlem; Çağdaş, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I; Levy, Jacov; Espinosa-Rosales, Francisco J; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; Van Dissel, Jaap T; Bustamante, Jacinta (2013). "IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database". Human Mutation. 34 (10): 1329–1339. doi:10.1002/humu.22380. PMC4104692. PMID23864330.
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. PMID12671732.
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. PMID7527811.
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. PMID7843232.
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. PMID7911493.
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. PMID8125298.
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. PMID9038232.
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. PMID9284929.
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. PMID9373149.
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. PMID9469420.
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. doi:10.1126/science.280.5368.1435. PMID9603733.
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. PMID9637763.
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. PMID10415122.
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. PMID11114383.
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. PMID11424023.
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. PMID12023369.
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. PMID12496448.