Interferon gamma receptor 1 explained

Interferon gamma receptor 1 (IFNGR1) also known as CD119 (Cluster of Differentiation 119), is a protein that in humans is encoded by the IFNGR1 gene.^{[1] [2] [3]}

Function

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]

Interactions

Interferon gamma receptor 1 has been shown to interact with Interferon-gamma.^{[4] [5]}

Mutations

Mutations in the IFNGR1 gene can lead to extreme susceptibility to Mycobacterial infections.^[6] All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.^{[7] [8]}

See also

• Cluster of differentiation
• Interferon-gamma receptor

References

Further reading

• Samuel CE . Antiviral actions of interferons . Clinical Microbiology Reviews . 14 . 4 . 778–809, table of contents . Oct 2001 . 11585785 . 89003 . 10.1128/CMR.14.4.778-809.2001 .
• van Loon AP, Ozmen L, Fountoulakis M, Kania M, Haiker M, Garotta G . 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 . May 1991 . 1826725 . 10.1002/jlb.49.5.462. 23547270 .
• Le Coniat M, Alcaide-Loridan C, Fellous M, Berger R . Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24 . Human Genetics . 84 . 1 . 92–4 . Dec 1989 . 2532616 . 10.1007/BF00210682 . 29835482 .
• Novick D, Orchansky P, Revel M, Rubinstein M . The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies . The Journal of Biological Chemistry . 262 . 18 . 8483–7 . Jun 1987 . 10.1016/S0021-9258(18)47439-X . 2954953 . free .
• Aguet M, Dembić Z, Merlin G . Molecular cloning and expression of the human interferon-gamma receptor . Cell . 55 . 2 . 273–80 . Oct 1988 . 2971451 . 10.1016/0092-8674(88)90050-5 . 54247636 .
• Szente BE, Subramaniam PS, Johnson HM . 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 . Dec 1995 . 10.4049/jimmunol.155.12.5617 . 7499845 . free .
• Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG, Larner AC, Finbloom DS . 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 . May 1994 . 10.1016/S0021-9258(17)36621-8 . 7514165 . free .
• Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny PJ, Narula SK . Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor . Nature . 376 . 6537 . 230–5 . Jul 1995 . 7617032 . 10.1038/376230a0 . 1995Natur.376..230W . 12387899 .
• Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN . Interaction between the components of the interferon gamma receptor complex . The Journal of Biological Chemistry . 270 . 36 . 20915–21 . Sep 1995 . 7673114 . 10.1074/jbc.270.36.20915 . free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . Jan 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Tjoelker LW, Seyfried CE, Eddy RL, Byers MG, Shows TB, Calderon J, Schreiber RB, Gray PW . 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 . Mar 1994 . 8136357 . 10.1021/bi00177a013 .
• Greenlund AC, Farrar MA, Viviano BL, Schreiber RD . Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91) . The EMBO Journal . 13 . 7 . 1591–600 . Apr 1994 . 8156998 . 394989 . 10.1002/j.1460-2075.1994.tb06422.x.
• Stüber D, Friedlein A, Fountoulakis M, Lahm HW, Garotta G . 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 . Mar 1993 . 8443182 . 10.1021/bi00060a038 .
• Dalton DK, Pitts-Meek S, Keshav S, Figari IS, Bradley A, Stewart TA . Multiple defects of immune cell function in mice with disrupted interferon-gamma genes . Science . 259 . 5102 . 1739–42 . Mar 1993 . 8456300 . 10.1126/science.8456300 . 1993Sci...259.1739D .
• Novelli F, Giovarelli M, Gentz R, Zucca M, di Pierro F, Garotta G, Forni G . Modulation of interferon-gamma receptor during human T lymphocyte alloactivation . European Journal of Immunology . 23 . 6 . 1226–31 . Jun 1993 . 8500521 . 10.1002/eji.1830230605 . 83740144 .
• Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M . A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection . The New England Journal of Medicine . 335 . 26 . 1941–9 . Dec 1996 . 8960473 . 10.1056/NEJM199612263352602 . free .
• Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL . Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection . The New England Journal of Medicine . 335 . 26 . 1956–61 . Dec 1996 . 8960475 . 10.1056/NEJM199612263352604 . free .
• Gerritsma JS, Gerritsen AF, De Ley M, van Es LA, Daha MR . Interferon-gamma induces biosynthesis of complement components C2, C4 and factor H by human proximal tubular epithelial cells . Cytokine . 9 . 4 . 276–83 . Apr 1997 . 9112336 . 10.1006/cyto.1996.0164 .
• Sogabe S, Stuart F, Henke C, Bridges A, Williams G, Birch A, Winkler FK, Robinson JA . 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 . Nov 1997 . 9367779 . 10.1006/jmbi.1997.1336 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . Oct 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .

Notes and References

1. Web site: Entrez Gene: IFNGR1 interferon gamma receptor 1.
2. Novick D, Orchansky P, Revel M, Rubinstein M . The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies . The Journal of Biological Chemistry . 262 . 18 . 8483–7 . Jun 1987 . 10.1016/S0021-9258(18)47439-X . 2954953 . free .
3. Aguet M, Dembić Z, Merlin G . Molecular cloning and expression of the human interferon-gamma receptor . Cell . 55 . 2 . 273–80 . Oct 1988 . 2971451 . 10.1016/0092-8674(88)90050-5 . 54247636 .
4. Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chène C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE . Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex . Structure . 8 . 9 . 927–36 . Sep 2000 . 10986460 . 10.1016/S0969-2126(00)00184-2 . free .
5. Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN . Interaction between the components of the interferon gamma receptor complex . The Journal of Biological Chemistry . 270 . 36 . 20915–21 . Sep 1995 . 7673114 . 10.1074/jbc.270.36.20915 . free .
6. van de Vosse E, van Dissel JT, Ottenhoff TH . Genetic deficiencies of innate immune signalling in human infectious disease . The Lancet. Infectious Diseases . 9 . 11 . 688–98 . 2009 . 19850227 . 10.1016/S1473-3099(09)70255-5 .
7. Web site: IFNGR1 . LOVD database .
8. van de Vosse E, van Dissel JT . IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database . Human Mutation . 38 . 10 . 1286–1296 . 2017 . 28744922 . 10.1002/humu.23302 . 205923902 . free .