IFNGR1

Interferon gamma receptor 1

Interferon gamma receptor 1

Protein-coding gene in the species Homo sapiens

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]

Quick Facts IFNGR1, Available structures ...

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.[5]

Interactions

Interferon gamma receptor 1 has been shown to interact with Interferon-gamma.[8][9]

Mutations

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]

See also

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000027697 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000020009 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    "Entrez Gene: IFNGR1 interferon gamma receptor 1".
  6. [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.
  7. [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.
  8. [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.
  9. [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. [10]
    Online Mendelian Inheritance in Man (OMIM): Immunodeficiency 27B; IMD27B - 615978
  11. [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. [12]
    "IFNGR1". LOVD database.
  13. [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.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Stub icon

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.
Share this article:

This article uses material from the Wikipedia article IFNGR1, and is written by contributors. Text is available under a CC BY-SA 4.0 International License; additional terms may apply. Images, videos and audio are available under their respective licenses.