Biology:Interleukin 12 receptor, beta 1 subunit
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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". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3594.
- ↑ "OMIM Entry - # 614891 - IMMUNODEFICIENCY 30; IMD30". https://omim.org/entry/614891.
- ↑ "The IL12RB1 gene homepage - Global Variome shared LOVD". http://www.lovd.nl/IL12RB1.
- ↑ Van De Vosse, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayşe; Garty, Ben Zion; Sun-Tan, Çağman et al. (2013). "IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database". Human Mutation 34 (10): 1329–1339. doi:10.1002/humu.22380. PMID 23864330.
Further reading
- "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. 2003. doi:10.1007/s00251-002-0534-9. PMID 12671732.
- "Human IL-12 p40 homodimer binds to the IL-12 receptor but does not mediate biologic activity". J. Immunol. 154 (1): 116–27. 1995. doi:10.4049/jimmunol.154.1.116. PMID 7527811.
- "Mouse interleukin-12 (IL-12) p40 homodimer: a potent IL-12 antagonist". Eur. J. Immunol. 25 (1): 200–6. 1995. doi:10.1002/eji.1830250133. PMID 7843232.
- "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. 1994. doi:10.4049/jimmunol.153.1.128. PMID 7911493.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "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. 1997. doi:10.1073/pnas.93.24.14002. PMID 8943050.
- "Molecular biology of interleukin-12 receptors". Ann. N. Y. Acad. Sci. 795: 36–40. 1997. doi:10.1111/j.1749-6632.1996.tb52653.x. PMID 8958915.
- "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. 1997. doi:10.1074/jbc.272.9.6073. PMID 9038232.
- "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. 1997. doi:10.1159/000134589. PMID 9284929.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. 1998. doi:10.4049/jimmunol.160.4.1638. PMID 9469420.
- "Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients". Science 280 (5368): 1435–8. 1998. doi:10.1126/science.280.5368.1435. PMID 9603733. Bibcode: 1998Sci...280.1435D.
- "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. 1998. doi:10.1006/cimm.1998.1294. PMID 9637763.
- "Direct interaction of STAT4 with the IL-12 receptor". Arch. Biochem. Biophys. 368 (1): 147–55. 1999. doi:10.1006/abbi.1999.1302. PMID 10415122.
- "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. 2001. doi:10.1016/S1074-7613(00)00070-4. PMID 11114383.
- "Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis". J. Infect. Dis. 184 (2): 231–6. 2001. doi:10.1086/321999. PMID 11424023.
- "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. 2002. doi:10.1002/1521-4141(200203)32:3<693::AID-IMMU693>3.0.CO;2-Q. PMID 11857344.
- "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. 2002. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency". J. Immunol. 170 (1): 597–603. 2003. doi:10.4049/jimmunol.170.1.597. PMID 12496448.
External links
- IL12RB1+protein,+human at the US 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.
![]() | Original source: https://en.wikipedia.org/wiki/Interleukin 12 receptor, beta 1 subunit.
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