ID:INGR1_HUMAN DESCRIPTION: RecName: Full=Interferon gamma receptor 1; Short=IFN-gamma receptor 1; Short=IFN-gamma-R1; AltName: Full=CDw119; AltName: CD_antigen=CD119; Flags: Precursor; FUNCTION: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. SUBUNIT: Monomer. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. PTM: Phosphorylated at Ser/Thr residues. POLYMORPHISM: A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]. DISEASE: Defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; 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. SIMILARITY: Belongs to the type II cytokine receptor family. SIMILARITY: Contains 2 fibronectin type-III domains. SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains. WEB RESOURCE: Name=IFNGR1base; Note=IFNGR1 mutation db; URL="http://bioinf.uta.fi/IFNGR1base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNGR1"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifngr1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15260
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
