Interferon gamma receptor 1 (IFNGR1) also known as CD119 (Cluster of Differentiation 119), is a protein that in humans is encoded by the IFNGR1gene.[1][2][3]
The gene IFNGR1 encodes IFN-γR1, which is the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, which is found on macrophages. IFNGR2, encodes IFN-γR2, the non-ligand-binding partner of the heterodimeric receptor.[1]
Mutations in the IFNGR1 gene can lead to extreme susceptibility to Mycobacterial infections.[6][7] All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.[8][9]
↑Aguet M, Dembić Z, Merlin G (Oct 1988). "Molecular cloning and expression of the human interferon-gamma receptor". Cell. 55 (2): 273–80. doi:10.1016/0092-8674(88)90050-5. PMID2971451.
↑Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chène C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE (Sep 2000). "Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex". Structure. 8 (9): 927–36. doi:10.1016/S0969-2126(00)00184-2. PMID10986460.
↑Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN (Sep 1995). "Interaction between the components of the interferon gamma receptor complex". The Journal of Biological Chemistry. 270 (36): 20915–21. doi:10.1074/jbc.270.36.20915. PMID7673114.
↑van de Vosse E, van Dissel JT, Ottenhoff TH (2009). "Genetic deficiencies of innate immune signalling in human infectious disease". The Lancet. Infectious Diseases. 9 (11): 688–98. doi:10.1016/S1473-3099(09)70255-5. PMID19850227.
↑van de Vosse E, van Dissel JT (2017). "IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database". Human Mutation. 38 (10): 1286–1296. doi:10.1002/humu.23302. PMID28744922.
van Loon AP, Ozmen L, Fountoulakis M, Kania M, Haiker M, Garotta G (May 1991). "High-affinity receptor for interferon-gamma (IFN-gamma), a ubiquitous protein occurring in different molecular forms on human cells: blood monocytes and eleven different cell lines have the same IFN-gamma receptor protein". Journal of Leukocyte Biology. 49 (5): 462–73. PMID1826725.
Le Coniat M, Alcaide-Loridan C, Fellous M, Berger R (Dec 1989). "Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24". Human Genetics. 84 (1): 92–4. doi:10.1007/BF00210682. PMID2532616.
Novick D, Orchansky P, Revel M, Rubinstein M (Jun 1987). "The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies". The Journal of Biological Chemistry. 262 (18): 8483–7. PMID2954953.
Aguet M, Dembić Z, Merlin G (Oct 1988). "Molecular cloning and expression of the human interferon-gamma receptor". Cell. 55 (2): 273–80. doi:10.1016/0092-8674(88)90050-5. PMID2971451.
Szente BE, Subramaniam PS, Johnson HM (Dec 1995). "Identification of IFN-gamma receptor binding sites for JAK2 and enhancement of binding by IFN-gamma and its C-terminal peptide IFN-gamma(95-133)". Journal of Immunology. 155 (12): 5617–22. PMID7499845.
Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG, Larner AC, Finbloom DS (May 1994). "Interferon-gamma induces tyrosine phosphorylation of interferon-gamma receptor and regulated association of protein tyrosine kinases, Jak1 and Jak2, with its receptor". The Journal of Biological Chemistry. 269 (20): 14333–6. PMID7514165.
Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny PJ, Narula SK (Jul 1995). "Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor". Nature. 376 (6537): 230–5. doi:10.1038/376230a0. PMID7617032.
Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN (Sep 1995). "Interaction between the components of the interferon gamma receptor complex". The Journal of Biological Chemistry. 270 (36): 20915–21. doi:10.1074/jbc.270.36.20915. PMID7673114.
Maruyama K, Sugano S (Jan 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.
Tjoelker LW, Seyfried CE, Eddy RL, Byers MG, Shows TB, Calderon J, Schreiber RB, Gray PW (Mar 1994). "Human, mouse, and rat calnexin cDNA cloning: identification of potential calcium binding motifs and gene localization to human chromosome 5". Biochemistry. 33 (11): 3229–36. doi:10.1021/bi00177a013. PMID8136357.
Stüber D, Friedlein A, Fountoulakis M, Lahm HW, Garotta G (Mar 1993). "Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity". Biochemistry. 32 (9): 2423–30. doi:10.1021/bi00060a038. PMID8443182.
Dalton DK, Pitts-Meek S, Keshav S, Figari IS, Bradley A, Stewart TA (Mar 1993). "Multiple defects of immune cell function in mice with disrupted interferon-gamma genes". Science. 259 (5102): 1739–42. doi:10.1126/science.8456300. PMID8456300.
Novelli F, Giovarelli M, Gentz R, Zucca M, di Pierro F, Garotta G, Forni G (Jun 1993). "Modulation of interferon-gamma receptor during human T lymphocyte alloactivation". European Journal of Immunology. 23 (6): 1226–31. doi:10.1002/eji.1830230605. PMID8500521.
Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M (Dec 1996). "A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection". The New England Journal of Medicine. 335 (26): 1941–9. doi:10.1056/NEJM199612263352602. PMID8960473.
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL (Dec 1996). "Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection". The New England Journal of Medicine. 335 (26): 1956–61. doi:10.1056/NEJM199612263352604. PMID8960475.
Gerritsma JS, Gerritsen AF, De Ley M, van Es LA, Daha MR (Apr 1997). "Interferon-gamma induces biosynthesis of complement components C2, C4 and factor H by human proximal tubular epithelial cells". Cytokine. 9 (4): 276–83. doi:10.1006/cyto.1996.0164. PMID9112336.
Sogabe S, Stuart F, Henke C, Bridges A, Williams G, Birch A, Winkler FK, Robinson JA (Nov 1997). "Neutralizing epitopes on the extracellular interferon gamma receptor (IFNgammaR) alpha-chain characterized by homolog scanning mutagenesis and X-ray crystal structure of the A6 fab-IFNgammaR1-108 complex". Journal of Molecular Biology. 273 (4): 882–97. doi:10.1006/jmbi.1997.1336. PMID9367779.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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.