Interferon gamma receptor 1 (IFNGR1) also known as CD119 (Cluster of Differentiation 119), is a protein that in humans is encoded by the IFNGR1gene.[5][6][7]
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.[5]
Mutations in the IFNGR1 gene can lead to extreme susceptibility to Mycobacterial infections.[10][11] All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.[12][13]
^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. doi:10.1016/S0021-9258(18)47439-X. PMID 2954953.
^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. PMID 2971451. S2CID 54247636.
^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. PMID 10986460.
^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. PMID 7673114.
^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. PMID 19850227.
^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. PMID 28744922. S2CID 205923902.
Further readingedit
Samuel CE (Oct 2001). "Antiviral actions of interferons". Clinical Microbiology Reviews. 14 (4): 778–809, table of contents. doi:10.1128/CMR.14.4.778-809.2001. PMC89003. PMID 11585785.
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. doi:10.1002/jlb.49.5.462. PMID 1826725. S2CID 23547270.
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. PMID 2532616. S2CID 29835482.
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. doi:10.1016/S0021-9258(18)47439-X. PMID 2954953.
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. PMID 2971451. S2CID 54247636.
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. doi:10.4049/jimmunol.155.12.5617. PMID 7499845.
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. doi:10.1016/S0021-9258(17)36621-8. PMID 7514165.
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. Bibcode:1995Natur.376..230W. doi:10.1038/376230a0. PMID 7617032. S2CID 12387899.
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. PMID 7673114.
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. PMID 8125298.
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. PMID 8136357.
Greenlund AC, Farrar MA, Viviano BL, Schreiber RD (Apr 1994). "Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91)". The EMBO Journal. 13 (7): 1591–600. doi:10.1002/j.1460-2075.1994.tb06422.x. PMC394989. PMID 8156998.
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. PMID 8443182.
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. Bibcode:1993Sci...259.1739D. doi:10.1126/science.8456300. PMID 8456300.
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. PMID 8500521. S2CID 83740144.
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. PMID 8960473.
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. PMID 8960475.
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. PMID 9112336.
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. PMID 9367779.
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. PMID 9373149.
interferon, gamma, receptor, ifngr1, also, known, cd119, cluster, differentiation, protein, that, humans, encoded, ifngr1, gene, ifngr1available, structurespdbortholog, search, pdbe, rcsblist, codes1fg9, 1fyh, 1jrhidentifiersaliasesifngr1, cd119, ifngr, imd27a. 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 5 6 7 IFNGR1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1FG9 1FYH 1JRHIdentifiersAliasesIFNGR1 CD119 IFNGR IMD27A IMD27B interferon gamma receptor 1External IDsOMIM 107470 MGI 107655 HomoloGene 359 GeneCards IFNGR1 OMA IFNGR1 orthologsGene location Human Chr Chromosome 6 human 1 Band6q23 3Start137 197 483 bp 1 End137 219 449 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 A3 10 8 49 cMStart19 467 697 bp 2 End19 485 977 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inlower lobe of lungright lungjejunal mucosapericardiumhuman penispalpebral conjunctivamonocyteupper lobe of lungupper lobe of left lungappendixTop expressed inMeckel s cartilagethymusleft colonmyometriumduodenumlipjejunumstomachright lungspleenMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioninterferon gamma receptor activity protein binding cytokine binding cytokine receptor activityCellular componentintegral component of membrane integral component of plasma membrane membrane plasma membraneBiological processresponse to virus regulation of interferon gamma mediated signaling pathway signal transduction interferon gamma mediated signaling pathway cytokine mediated signaling pathway microglial cell activation positive regulation of gene expression astrocyte activation negative regulation of amyloid beta clearance positive regulation of amyloid beta formationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez345915979EnsemblENSG00000027697ENSMUSG00000020009UniProtP15260P15261RefSeq mRNA NM 000416NM 001363526NM 001363527NM 010511RefSeq protein NP 000407NP 001350455NP 001350456NP 034641Location UCSC Chr 6 137 2 137 22 MbChr 10 19 47 19 49 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 Mutations 4 See also 5 References 6 Further reading 7 External linksFunction editThe gene IFNGR1 encodes IFN gR1 which is the ligand binding chain alpha of the heterodimeric gamma interferon receptor which is found on macrophages IFNGR2 encodes IFN gR2 the non ligand binding partner of the heterodimeric receptor 5 Interactions editInterferon gamma receptor 1 has been shown to interact with Interferon gamma 8 9 Mutations editMutations in the IFNGR1 gene can lead to extreme susceptibility to Mycobacterial infections 10 11 All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database 12 13 See also editCluster of differentiation Interferon gamma receptorReferences edit a b c GRCh38 Ensembl release 89 ENSG00000027697 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000020009 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 IFNGR1 interferon gamma receptor 1 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 doi 10 1016 S0021 9258 18 47439 X PMID 2954953 Aguet M Dembic 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 PMID 2971451 S2CID 54247636 Thiel DJ le Du MH Walter RL D Arcy A Chene 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 PMID 10986460 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 PMID 7673114 Online Mendelian Inheritance in Man OMIM Immunodeficiency 27B IMD27B 615978 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 PMID 19850227 IFNGR1 LOVD database van de Vosse E van Dissel JT 2017 IFN gR1 defects Mutation update and description of the IFNGR1 variation database Human Mutation 38 10 1286 1296 doi 10 1002 humu 23302 PMID 28744922 S2CID 205923902 Further reading editSamuel CE Oct 2001 Antiviral actions of interferons Clinical Microbiology Reviews 14 4 778 809 table of contents doi 10 1128 CMR 14 4 778 809 2001 PMC 89003 PMID 11585785 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 doi 10 1002 jlb 49 5 462 PMID 1826725 S2CID 23547270 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 PMID 2532616 S2CID 29835482 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 doi 10 1016 S0021 9258 18 47439 X PMID 2954953 Aguet M Dembic 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 PMID 2971451 S2CID 54247636 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 doi 10 4049 jimmunol 155 12 5617 PMID 7499845 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 doi 10 1016 S0021 9258 17 36621 8 PMID 7514165 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 Bibcode 1995Natur 376 230W doi 10 1038 376230a0 PMID 7617032 S2CID 12387899 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 PMID 7673114 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 PMID 8125298 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 PMID 8136357 Greenlund AC Farrar MA Viviano BL Schreiber RD Apr 1994 Ligand induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system p91 The EMBO Journal 13 7 1591 600 doi 10 1002 j 1460 2075 1994 tb06422 x PMC 394989 PMID 8156998 Stuber 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 PMID 8443182 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 Bibcode 1993Sci 259 1739D doi 10 1126 science 8456300 PMID 8456300 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 PMID 8500521 S2CID 83740144 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 PMID 8960473 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 Guerin infection The New England Journal of Medicine 335 26 1956 61 doi 10 1056 NEJM199612263352604 PMID 8960475 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 PMID 9112336 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 PMID 9367779 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 PMID 9373149 External links editIFNGR1 protein human at the U S 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 nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Interferon gamma receptor 1 amp oldid 1216950249, wikipedia, wiki, book, books, library,
