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Interferon gamma receptor 1

From Wikipedia, the free encyclopedia

IFNGR1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesIFNGR1, CD119, IFNGR, IMD27A, IMD27B, interferon gamma receptor 1
External IDsOMIM: 107470; MGI: 107655; HomoloGene: 359; GeneCards: IFNGR1; OMA:IFNGR1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000416
NM_001363526
NM_001363527

NM_010511

RefSeq (protein)

NP_000407
NP_001350455
NP_001350456

NP_034641

Location (UCSC)Chr 6: 137.2 – 137.22 MbChr 10: 19.47 – 19.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6][7]

Function

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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

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

Mutations

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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

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000027697Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020009Ensembl, 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.
  5. ^ a b "Entrez Gene: IFNGR1 interferon gamma receptor 1".
  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. ^ 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. ^ 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. ^ 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
  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.
  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

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