Biology:Interferon gamma receptor 1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3459. 
  2. "The human interferon-gamma receptor. Purification, characterization, and preparation of antibodies". The Journal of Biological Chemistry 262 (18): 8483–7. Jun 1987. doi:10.1016/S0021-9258(18)47439-X. PMID 2954953. http://www.jbc.org/cgi/reprint/262/18/8483. 
  3. "Molecular cloning and expression of the human interferon-gamma receptor". Cell 55 (2): 273–80. Oct 1988. doi:10.1016/0092-8674(88)90050-5. PMID 2971451. 
  4. "Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex". Structure 8 (9): 927–36. Sep 2000. doi:10.1016/S0969-2126(00)00184-2. PMID 10986460. 
  5. "Interaction between the components of the interferon gamma receptor complex". The Journal of Biological Chemistry 270 (36): 20915–21. Sep 1995. doi:10.1074/jbc.270.36.20915. PMID 7673114. 
  6. Online Mendelian Inheritance in Man (OMIM) Immunodeficiency 27B; IMD27B -615978
  7. "Genetic deficiencies of innate immune signalling in human infectious disease". The Lancet. Infectious Diseases 9 (11): 688–98. 2009. doi:10.1016/S1473-3099(09)70255-5. PMID 19850227. 
  8. "IFNGR1". LOVD database. https://www.lovd.nl/IFNGR1. 
  9. "IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database". Human Mutation 38 (10): 1286–1296. 2017. doi:10.1002/humu.23302. PMID 28744922. 

Further reading

External links

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