IFNGR1 Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. Defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Belongs to the type II cytokine receptor family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 10 A3|10 8.49 cM
Cellular Component:  dendrite; endoplasmic reticulum; integral component of membrane; membrane; plasma membrane; postsynaptic density; vesicle
Molecular Function:  cytokine binding; cytokine receptor activity
Biological Process:  cytokine-mediated signaling pathway; defense response to virus
Reference #:  P15261 (UniProtKB)
Alt. Names/Synonyms: CD119; Ifgr; IFN-gamma receptor 1; IFN-gamma-R1; IFN-gammaR; Ifngr; Ifngr1; INF-g receptor; Interferon gamma receptor; Interferon gamma receptor 1; interferon-gamma receptor 1; Nktar
Gene Symbols: Ifngr1
Molecular weight: 52,343 Da
Basal Isoelectric point: 5.37  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene