Interferon gamma receptor 1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Interferon gamma receptor 1''' ('''IFNGR1''') also known as '''CD119''' ('''C'''luster of '''D'''ifferentiation '''119'''), is a [[protein]] that in humans is encoded by the ''IFNGR1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: IFNGR1 interferon gamma receptor 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3459| accessdate = }}</ref><ref name="pmid2954953">{{cite journal | vauthors = Novick D, Orchansky P, Revel M, Rubinstein M | title = The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies | journal = The Journal of Biological Chemistry | volume = 262 | issue = 18 | pages = 8483–7 | date = Jun 1987 | pmid = 2954953 | doi =  | url = http://www.jbc.org/cgi/reprint/262/18/8483 }}</ref><ref name="pmid2971451">{{cite journal | vauthors = Aguet M, Dembić Z, Merlin G | title = Molecular cloning and expression of the human interferon-gamma receptor | journal = Cell | volume = 55 | issue = 2 | pages = 273–80 | date = Oct 1988 | pmid = 2971451 | doi = 10.1016/0092-8674(88)90050-5 }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_IFNGR1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1fg9.
| PDB = {{PDB2|1fg9}}, {{PDB2|1fyh}}, {{PDB2|1jrh}}
| Name = Interferon gamma receptor 1
| HGNCid = 5439
| Symbol = IFNGR1
| AltSymbols =; CD119; FLJ45734; IFNGR
| OMIM = 107470
| ECnumber = 
| Homologene = 359
| MGIid = 107655
| GeneAtlas_image1 = PBB_GE_IFNGR1_202727_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_IFNGR1_211676_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004906 |text = interferon-gamma receptor activity}} {{GNF_GO|id=GO:0019955 |text = cytokine binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0009615 |text = response to virus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3459
    | Hs_Ensembl = ENSG00000027697
    | Hs_RefseqProtein = NP_000407
    | Hs_RefseqmRNA = NM_000416
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 137560314
    | Hs_GenLoc_end = 137582279
    | Hs_Uniprot = P15260
    | Mm_EntrezGene = 15979
    | Mm_Ensembl = ENSMUSG00000020009
    | Mm_RefseqmRNA = NM_010511
    | Mm_RefseqProtein = NP_034641
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 19281386
    | Mm_GenLoc_end = 19299641
    | Mm_Uniprot = Q3TW49
  }}
}}
'''Interferon gamma receptor 1''' ('''IFNGR1''') also known as '''CD119''' ('''C'''luster of '''D'''ifferentiation '''119'''), is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: IFNGR1 interferon gamma receptor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3459| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The gene ''IFNGR1'' encodes IFN-γR1, which is the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, which is found on [[macrophages]]. [[Interferon gamma receptor 2|IFNGR2]], encodes IFN-γR2, the non-ligand-binding partner of the heterodimeric receptor.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = IFNGR1 encodes the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor. IFNGR2 encodes the non-ligand-binding partner of the heterodimeric receptor.<ref name="entrez">{{cite web | title = Entrez Gene: IFNGR1 interferon gamma receptor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3459| accessdate = }}</ref>
}}


==See also==
== Interactions ==
 
Interferon gamma receptor 1 has been shown to [[Protein-protein interaction|interact]] with [[Interferon-gamma]].<ref name=pmid10986460>{{cite journal | vauthors = Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chène C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE | title = Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex | journal = Structure | volume = 8 | issue = 9 | pages = 927–36 | date = Sep 2000 | pmid = 10986460 | doi = 10.1016/S0969-2126(00)00184-2 }}</ref><ref name=pmid7673114>{{cite journal | vauthors = Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN | title = Interaction between the components of the interferon gamma receptor complex | journal = The Journal of Biological Chemistry | volume = 270 | issue = 36 | pages = 20915–21 | date = Sep 1995 | pmid = 7673114 | doi = 10.1074/jbc.270.36.20915 }}</ref>
 
== Mutations ==
Mutations in the ''IFNGR1'' gene can lead to extreme susceptibility to Mycobacterial infections.<ref>{{OMIM|615978|Immunodeficiency 27B; IMD27B}}</ref><ref name="pmid19850227">{{cite journal | vauthors = van de Vosse E, van Dissel JT, Ottenhoff TH | title = Genetic deficiencies of innate immune signalling in human infectious disease | journal = The Lancet. Infectious Diseases | volume = 9 | issue = 11 | pages = 688–98 | year = 2009 | pmid = 19850227 | doi = 10.1016/S1473-3099(09)70255-5 }}</ref> All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.<ref>{{cite web | url = https://www.lovd.nl/IFNGR1 | title = IFNGR1 | work = LOVD database }}</ref><ref name="pmid28744922">{{cite journal | vauthors = van de Vosse E, van Dissel JT | title = IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database | journal = Human Mutation | volume = 38 | issue = 10 | pages = 1286–1296 | year = 2017 | pmid = 28744922 | doi = 10.1002/humu.23302 }}</ref>
 
== See also ==
* [[Cluster of differentiation]]
* [[Cluster of differentiation]]
* [[Interferon-gamma receptor]]
* [[Interferon-gamma receptor]]


==References==
== References ==
{{reflist|2}}
{{reflist}}
 
{{clear}}
==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Samuel CE | title = Antiviral actions of interferons | journal = Clinical Microbiology Reviews | volume = 14 | issue = 4 | pages = 778–809, table of contents | date = Oct 2001 | pmid = 11585785 | pmc = 89003 | doi = 10.1128/CMR.14.4.778-809.2001 }}
| citations =
* {{cite journal | vauthors = van Loon AP, Ozmen L, Fountoulakis M, Kania M, Haiker M, Garotta G | title = 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 = Journal of Leukocyte Biology | volume = 49 | issue = 5 | pages = 462–73 | date = May 1991 | pmid = 1826725 | doi =  }}
*{{cite journal | author=Samuel CE |title=Antiviral actions of interferons. |journal=Clin. Microbiol. Rev. |volume=14 |issue= 4 |pages= 778-809, table of contents |year= 2002 |pmid= 11585785 |doi= 10.1128/CMR.14.4.778-809.2001 }}
* {{cite journal | vauthors = Le Coniat M, Alcaide-Loridan C, Fellous M, Berger R | title = Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24 | journal = Human Genetics | volume = 84 | issue = 1 | pages = 92–4 | date = Dec 1989 | pmid = 2532616 | doi = 10.1007/BF00210682 }}
*{{cite journal | author=van Loon AP, Ozmen L, Fountoulakis M, ''et al.'' |title=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=J. Leukoc. Biol. |volume=49 |issue= 5 |pages= 462-73 |year= 1991 |pmid= 1826725 |doi=  }}
* {{cite journal | vauthors = Novick D, Orchansky P, Revel M, Rubinstein M | title = The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies | journal = The Journal of Biological Chemistry | volume = 262 | issue = 18 | pages = 8483–7 | date = Jun 1987 | pmid = 2954953 | doi =  }}
*{{cite journal | author=Le Coniat M, Alcaide-Loridan C, Fellous M, Berger R |title=Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24. |journal=Hum. Genet. |volume=84 |issue= 1 |pages= 92-4 |year= 1990 |pmid= 2532616 |doi= }}
* {{cite journal | vauthors = Aguet M, Dembić Z, Merlin G | title = Molecular cloning and expression of the human interferon-gamma receptor | journal = Cell | volume = 55 | issue = 2 | pages = 273–80 | date = Oct 1988 | pmid = 2971451 | doi = 10.1016/0092-8674(88)90050-5 }}
*{{cite journal | author=Novick D, Orchansky P, Revel M, Rubinstein M |title=The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies. |journal=J. Biol. Chem. |volume=262 |issue= 18 |pages= 8483-7 |year= 1987 |pmid= 2954953 |doi=  }}
* {{cite journal | vauthors = Szente BE, Subramaniam PS, Johnson HM | title = 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 = Journal of Immunology | volume = 155 | issue = 12 | pages = 5617–22 | date = Dec 1995 | pmid = 7499845 | doi =  }}
*{{cite journal | author=Aguet M, Dembić Z, Merlin G |title=Molecular cloning and expression of the human interferon-gamma receptor. |journal=Cell |volume=55 |issue= 2 |pages= 273-80 |year= 1988 |pmid= 2971451 |doi= }}
* {{cite journal | vauthors = Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG, Larner AC, Finbloom DS | title = Interferon-gamma induces tyrosine phosphorylation of interferon-gamma receptor and regulated association of protein tyrosine kinases, Jak1 and Jak2, with its receptor | journal = The Journal of Biological Chemistry | volume = 269 | issue = 20 | pages = 14333–6 | date = May 1994 | pmid = 7514165 | doi =  }}
*{{cite journal | author=Szente BE, Subramaniam PS, Johnson HM |title=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=J. Immunol. |volume=155 |issue= 12 |pages= 5617-22 |year= 1996 |pmid= 7499845 |doi=  }}
* {{cite journal | vauthors = Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny PJ, Narula SK | title = Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor | journal = Nature | volume = 376 | issue = 6537 | pages = 230–5 | date = Jul 1995 | pmid = 7617032 | doi = 10.1038/376230a0 }}
*{{cite journal | author=Igarashi K, Garotta G, Ozmen L, ''et al.'' |title=Interferon-gamma induces tyrosine phosphorylation of interferon-gamma receptor and regulated association of protein tyrosine kinases, Jak1 and Jak2, with its receptor. |journal=J. Biol. Chem. |volume=269 |issue= 20 |pages= 14333-6 |year= 1994 |pmid= 7514165 |doi=  }}
* {{cite journal | vauthors = Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN | title = Interaction between the components of the interferon gamma receptor complex | journal = The Journal of Biological Chemistry | volume = 270 | issue = 36 | pages = 20915–21 | date = Sep 1995 | pmid = 7673114 | doi = 10.1074/jbc.270.36.20915 }}
*{{cite journal | author=Walter MR, Windsor WT, Nagabhushan TL, ''et al.'' |title=Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor. |journal=Nature |volume=376 |issue= 6537 |pages= 230-5 |year= 1995 |pmid= 7617032 |doi= 10.1038/376230a0 }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Kotenko SV, Izotova LS, Pollack BP, ''et al.'' |title=Interaction between the components of the interferon gamma receptor complex. |journal=J. Biol. Chem. |volume=270 |issue= 36 |pages= 20915-21 |year= 1995 |pmid= 7673114 |doi= }}
* {{cite journal | vauthors = Tjoelker LW, Seyfried CE, Eddy RL, Byers MG, Shows TB, Calderon J, Schreiber RB, Gray PW | title = Human, mouse, and rat calnexin cDNA cloning: identification of potential calcium binding motifs and gene localization to human chromosome 5 | journal = Biochemistry | volume = 33 | issue = 11 | pages = 3229–36 | date = Mar 1994 | pmid = 8136357 | doi = 10.1021/bi00177a013 }}
*{{cite journal |author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Greenlund AC, Farrar MA, Viviano BL, Schreiber RD | title = Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91) | journal = The EMBO Journal | volume = 13 | issue = 7 | pages = 1591–600 | date = Apr 1994 | pmid = 8156998 | pmc = 394989 | doi =  }}
*{{cite journal | author=Tjoelker LW, Seyfried CE, Eddy RL, ''et al.'' |title=Human, mouse, and rat calnexin cDNA cloning: identification of potential calcium binding motifs and gene localization to human chromosome 5. |journal=Biochemistry |volume=33 |issue= 11 |pages= 3229-36 |year= 1994 |pmid= 8136357 |doi= }}
* {{cite journal | vauthors = Stüber D, Friedlein A, Fountoulakis M, Lahm HW, Garotta G | title = Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity | journal = Biochemistry | volume = 32 | issue = 9 | pages = 2423–30 | date = Mar 1993 | pmid = 8443182 | doi = 10.1021/bi00060a038 }}
*{{cite journal | author=Greenlund AC, Farrar MA, Viviano BL, Schreiber RD |title=Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91). |journal=EMBO J. |volume=13 |issue= 7 |pages= 1591-600 |year= 1994 |pmid= 8156998 |doi=  }}
* {{cite journal | vauthors = Dalton DK, Pitts-Meek S, Keshav S, Figari IS, Bradley A, Stewart TA | title = Multiple defects of immune cell function in mice with disrupted interferon-gamma genes | journal = Science | volume = 259 | issue = 5102 | pages = 1739–42 | date = Mar 1993 | pmid = 8456300 | doi = 10.1126/science.8456300 }}
*{{cite journal | author=Stüber D, Friedlein A, Fountoulakis M, ''et al.'' |title=Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity. |journal=Biochemistry |volume=32 |issue= 9 |pages= 2423-30 |year= 1993 |pmid= 8443182 |doi= }}
* {{cite journal | vauthors = Novelli F, Giovarelli M, Gentz R, Zucca M, di Pierro F, Garotta G, Forni G | title = Modulation of interferon-gamma receptor during human T lymphocyte alloactivation | journal = European Journal of Immunology | volume = 23 | issue = 6 | pages = 1226–31 | date = Jun 1993 | pmid = 8500521 | doi = 10.1002/eji.1830230605 }}
*{{cite journal | author=Dalton DK, Pitts-Meek S, Keshav S, ''et al.'' |title=Multiple defects of immune cell function in mice with disrupted interferon-gamma genes. |journal=Science |volume=259 |issue= 5102 |pages= 1739-42 |year= 1993 |pmid= 8456300 |doi= }}
* {{cite journal | vauthors = Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M | title = A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection | journal = The New England Journal of Medicine | volume = 335 | issue = 26 | pages = 1941–9 | date = Dec 1996 | pmid = 8960473 | doi = 10.1056/NEJM199612263352602 }}
*{{cite journal | author=Novelli F, Giovarelli M, Gentz R, ''et al.'' |title=Modulation of interferon-gamma receptor during human T lymphocyte alloactivation. |journal=Eur. J. Immunol. |volume=23 |issue= 6 |pages= 1226-31 |year= 1993 |pmid= 8500521 |doi= }}
* {{cite journal | vauthors = Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL | title = Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection | journal = The New England Journal of Medicine | volume = 335 | issue = 26 | pages = 1956–61 | date = Dec 1996 | pmid = 8960475 | doi = 10.1056/NEJM199612263352604 }}
*{{cite journal | author=Newport MJ, Huxley CM, Huston S, ''et al.'' |title=A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. |journal=N. Engl. J. Med. |volume=335 |issue= 26 |pages= 1941-9 |year= 1997 |pmid= 8960473 |doi= }}
* {{cite journal | vauthors = Gerritsma JS, Gerritsen AF, De Ley M, van Es LA, Daha MR | title = Interferon-gamma induces biosynthesis of complement components C2, C4 and factor H by human proximal tubular epithelial cells | journal = Cytokine | volume = 9 | issue = 4 | pages = 276–83 | date = Apr 1997 | pmid = 9112336 | doi = 10.1006/cyto.1996.0164 }}
*{{cite journal | author=Jouanguy E, Altare F, Lamhamedi S, ''et al.'' |title=Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. |journal=N. Engl. J. Med. |volume=335 |issue= 26 |pages= 1956-61 |year= 1997 |pmid= 8960475 |doi= }}
* {{cite journal | vauthors = Sogabe S, Stuart F, Henke C, Bridges A, Williams G, Birch A, Winkler FK, Robinson JA | title = 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 = Journal of Molecular Biology | volume = 273 | issue = 4 | pages = 882–97 | date = Nov 1997 | pmid = 9367779 | doi = 10.1006/jmbi.1997.1336 }}
*{{cite journal | author=Gerritsma JS, Gerritsen AF, De Ley M, ''et al.'' |title=Interferon-gamma induces biosynthesis of complement components C2, C4 and factor H by human proximal tubular epithelial cells. |journal=Cytokine |volume=9 |issue= 4 |pages= 276-83 |year= 1997 |pmid= 9112336 |doi= 10.1006/cyto.1996.0164 }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Sogabe S, Stuart F, Henke C, ''et al.'' |title=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=J. Mol. Biol. |volume=273 |issue= 4 |pages= 882-97 |year= 1998 |pmid= 9367779 |doi= 10.1006/jmbi.1997.1336 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
}}
{{refend}}
{{refend}}


==External links==
== External links ==
* {{MeshName|IFNGR1+protein,+human}}
* {{MeshName|IFNGR1+protein,+human}}


{{membrane-protein-stub}}
{{PDB Gallery|geneid=3459}}
{{NLM content}}
{{Clusters of differentiation}}
{{Clusters of differentiation}}
{{Cytokine receptors}}
{{Cytokine receptor modulators}}
[[Category:Clusters of differentiation]]
[[Category:Clusters of differentiation]]
{{WikiDoc Sources}}
 
{{NLM content}}
{{membrane-protein-stub}}

Latest revision as of 20:09, 14 February 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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][7] All known mutations and common variations in the IFNGR1 are present in the IFNGR1 mutation database.[8][9]

See also

References

  1. 1.0 1.1 "Entrez Gene: IFNGR1 interferon gamma receptor 1".
  2. 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. PMID 2954953.
  3. 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.
  4. 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.
  5. 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.
  6. Online Mendelian Inheritance in Man (OMIM) Immunodeficiency 27B; IMD27B -615978
  7. 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.
  8. "IFNGR1". LOVD database.
  9. 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.

Further reading

  • 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. PMID 1826725.
  • 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.
  • 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. 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.
  • 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. 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. 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. doi:10.1038/376230a0. PMID 7617032.
  • 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. 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. 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.
  • 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.

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