Interferon gamma receptor 1

IFNGR1
Identifiers
Aliases	IFNGR1, CD119, IFNGR, IMD27A, IMD27B, interferon gamma receptor 1
External IDs	OMIM: 107470; MGI: 107655; GeneCards: IFNGR1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1FG9, 1FYH, 1JRH
Gene location (Human)
Chr.	Chromosome 6 (human)
End	137,219,449 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	19,485,977 bp
RNA expression pattern
	Top expressed in
	lower lobe of lung; ; epithelium of nasopharynx; ; right lung; ; jejunal mucosa; ; pericardium; ; human penis; ; palpebral conjunctiva; ; skin of hip; ; monocyte; ; upper lobe of lung;
	Top expressed in
	lower jaw; ; Meckel's cartilage; ; mandibular molars; ; thymus; ; left colon; ; granulocyte; ; myometrium; ; duodenum; ; tibiofemoral joint; ; lip;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	interferon-gamma receptor activity; protein binding; cytokine binding; cytokine receptor activity;
Cellular component	integral component of membrane; integral component of plasma membrane; membrane; plasma membrane;
Biological process	response 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 formation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	3459
	15979
	ENSG00000027697
	ENSMUSG00000020009
	P15260
	P15261
	NM_000416; NM_001363526; NM_001363527
	NM_010511
	NP_000407; NP_001350455; NP_001350456
	NP_034641
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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.

Interactions

Interferon gamma receptor 1 has been shown to interact with Interferon-gamma.

Mutations

Mutations in the IFNGR1 gene can lead to extreme susceptibility to Mycobacterial infections. All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000027697 – Ensembl, May 2017
1 2 3 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.
1 2 "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, 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.
↑ 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-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.

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. 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, 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. PMC 394989. 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.

External links

IFNGR1+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.

This membrane protein–related article is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000027697 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020009 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: IFNGR1 interferon gamma receptor 1".

[pmid2954953-6] 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.

[pmid2971451-7] 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.

[pmid10986460-8] 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.

[pmid7673114-9] 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.

[10] Online Mendelian Inheritance in Man (OMIM): Immunodeficiency 27B; IMD27B - 615978

[pmid19850227-11] 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.

[12] "IFNGR1". LOVD database.

[pmid28744922-13] 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.

v t e Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1–50	1 a-c 1A 1B 1D 1E 2 3 γ δ ε 4 5 6 7 8 a 9 10 11 a b c d 13 14 15 16 A B 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 A B 33 34 35 36 37 38 39 40 41 42 a b c d 43 44 45 46 47 48 49 a b c d e f 50
51–100	51 52 53 54 55 56 57 58 59 61 62 E L P 63 64 A B C 66 a b c d e f 68 69 70 71 72 73 74 78 79 a b 80 81 82 83 84 85 a d e h j k 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100
101–150	101 102 103 104 105 106 107 a b 108 109 110 111 112 113 114 115 116 117 118 119 120 a b 121 a b 122 123 124 125 126 127 129 130 131 132 133 134 135 136 137 138 140b 141 142 143 144 146 147 148 150
151–200	151 152 153 154 155 156 a b c 157 158 (a d e i k) 159 a c 160 161 162 163 164 166 167 a b 168 169 170 171 172 a b g 174 177 178 179 a b 180 181 182 183 184 185 186 191 192 193 194 195 196 197 w198 w199 200
201–250	201 202b 204 205 206 207 208 209 w210 a b 212 213a 1 2 217 218 (a b) 220 221 222 223 224 225 226 227 228 229 230 233 234 235 a b 236 238 239 240CE 240D 241 243 244 246 247 248 249
251–300	252 253 254 256 257 258 261 262 263 264 265 266 267 268 269 271 272 273 274 275 276 278 279 280 281 282 283 284 286 288 289 290 292 w293 294 295 297 298 299
301–350	300A 301 302 303 304 305 306 307 309 312 314 315 316 317 318 320 321 322 324 325 326 327 328 329 331 332 333 334 335 336 337 338 339 340 344 349 350
351–371	351 352 353 354 355 357 358 360 361 362 363 364 365 366 367 368 369 370 371
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