DAVID Gene Report
2865838
interferon gamma receptor 1 Related Genes Homo sapiens
SP_COMMENT
PTM:Phosphorylated at Ser/Thr residues.,
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.,
function:Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.,
polymorphism:A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263].,
similarity:Belongs to the type II cytokine receptor family.,
similarity:Contains 2 Ig-like C2-type (immunoglobulin-like) domains.,
similarity:Contains 2 fibronectin type-III domains.,
subcellular location:Membrane; Single-pass type I membrane protein.,
subunit:Monomer.,
OMIM_DISEASE
BCG infection, generalized familial ,
H. pylori infection, susceptibility to ,
Mycobacterial infection, atypical, familial disseminated ,
Tuberculosis, susceptibility to ,
REFSEQ_PROTEIN
NP_000407 ,
ENTREZ_GENE_SUMMARY
IFNGR1 encodes the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor. IFNGR2 encodes the non-ligand-binding partner of the heterodimeric receptor.,
REFSEQ_MRNA
NM_000416 ,
GENPEPT_ACCESSION
AAA52731 ,
AAC52064 ,
AAH05333 ,
AAK30623 ,
AAP35460 ,
AAS89302 ,
ABQ00413 ,
BAD96523 ,
CAB53062 ,
CAD35933 ,
EAW47931 ,
EAW47932 ,
Genomic_DNA ,
JOINED ,
mRNA ,
GENE_SYMBOL
IFNGR1 ,
GENE_NAME
CD119 antigen,
CDw119,
IFN-gamma-R1,
Interferon gamma receptor 1,
Interferon gamma receptor 1 variant,
Interferon gamma receptor 1, isoform CRA_a,
Interferon-gamma receptor,
Interferon-gamma receptor alpha chain,
Interferon-gamma receptor alpha chain precursor,
Interferon-gamma receptor alpha chain precursor (IFN-gamma-R1) (CD119 antigen) (CDw119),
GENERIF_SUMMARY
IL-12R beta 1- and IFN-gamma R1 signals co-ordinately regulate IFN-gamma production, but only IL-12 negatively controls IL-4 production. IL-12 and IFN-gamma signals are each sufficient for IFN-gamma production but both are needed for optimal production. ,
partial IFNGR1 mutations in Japanese patients with BCG osteomyelitis ,
IFNGR1 gene promoter polymorphisms may be assocaited with susceptibility to cerebral malaria ,
Mutations in interferon-gamma receptor 1. ,
This study identified a further role of IFN-gamma on IL-4 responses, including reduced IL-4R surface expression by human monocytes. ,
Lipid microdomains are required sites for the selective endocytosis and nuclear translocation of IFN-gamma receptor-1. ,
Partial deficiency of IFN-gamma receptor 1 results in abrogation of IFN-gamma-induced killing of Salmonella typhimurium and Toxoplasma gondii due to IFN-gamma unresponsiveness of patients' cells of the monocyte/macrophage lineage. ,
FRET was used to demonstrate that the IFNGR chains were preassembled on the cell membrane. ,
suppressed by 2- to 3-fold in B-cell chronic lymphocytic leukemia cells, which is expected to increase CLL cell survival ,
Genome analysis identified polymorphism in the human interferon gamma receptor affecting Helicobacter pylori infection. ,
MHC Class II proteins, interferon-alpha, interferon-gamma receptor and the capacity to present antigen may be crucial in HIV-associated nephropathy pathogenesis. ,
Mutations have no association with the susceptibility to lepromatous leprosy in the Korean population. ,
Unidentified allelic variations in the IFNGR1 gene might elevate or decrease the risk in the Croatian population, as a part of the multigenic predisposition to tuberculosis. ,
In this study, although IFN-gamma production in the allergic patients with L467P was equivalent to that in the non-allergic subjects, their serum IgE levels were high and they had allergic diseases ,
IFN-gamma receptor deficiency alters the epitope hierarchy of the pool of lymphocytic choriomeningitis virus-specific memory CD8 T cells without significantly affecting the immunodominance of the primary CD8 T cell response in an acute infection. ,
disease susceptibility in Schistosoma mansoni infection to hepatic fibrosis is linked to a SNP in the interferon gamma receptor locus (P=0.000001). ,
IFNG T874A, IFNGR1 C-56T and IFNGR2 A839G genotypes were not associated with the incidence of angiographic and clinical restenosis (P>0.23). ,
The relationship between polymorphisms at IFNGR1 and susceptibility to pulmonary tuberculosis is reported in Iranian patients. ,
IFNGR1 does not contribute to susceptibility to rheumatoid arthritis in Caucasians, although a single nucleotide polymorphisms exist in this disease. ,
Novel tuberculosis association was found with the 56CC genotype of the IFNGR1 promotor. ,
Interferon (IFN)-gamma and its receptor subunit IFNGR1 bind to the IFN-gamma-activated sequence (GAS) response element in the promoter region of IFN-gamma-activated genes. This binding results in enhanced activation of IFN-gamma-induced genes. ,
no statistically significant association with susceptibility to persistent HBV infection was observed with the IFN-gamma, IFNGR-1 and 2, and IRF-1 gene polymorphisms under the codominant, dominant, and recessive models ,
Infection of HEK 293 cells with C. psittaci increased IFN-gammaR expression only in cells expressing either TLR2 or TLR4 and the adaptor protein MD-2. ,
The results suggest a complex pattern of haplotypic variation at the IFNGR1 promoter locus associated with post-kala-azar dermal leishmanaisis susceptibility. ,
The K3 and K5 proteins of Kaposi's sarcoma-associated herpesvirus (KSHV) both specifically target IFN-gammaR1 and induce its ubiquitination, endocytosis, and degradation. ,
The -56T allele in the IFNGR1 promoter results in higher IFNGR1 transcriptional activity and represents a genetic risk factor for atopic cataracts. ,
expression downregulated by Mycobacterium tuberculosis in human cells as immune evasion mechanism. ,
analyzed candidate genes related to TNFalpha regulation and found that interleukin (IL)-10, interferon-gamma receptor 1 (IFNGR1), and TNFalpha receptor 1 (TNFR1) genes were linked and associated to both tuberculosis and TNFalpha ,
A deletion in this receptor produces a truncated form of IFNgammaR1, which has a dominant-negative effect on IFNgamma signal transduction through altered receptor stability. ,
Variation in transcriptional activity of genes encoding INF-gamma receptor subunits may affect function of microvasculature and thereby participate in the pathology of cardiac syndrome X ,
expressed IFNgamma and IFNgamma-Ralpha together with the nuclear localization of IFNgamma-Rbeta, could be a tumoral cell response ,
CHROMOSOME
6,
ENTREZ_GENE_ID
3459 ,
PIR_SUMMARY
Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.,
UNIGENE
Hs.520414 ,
UNIREF100_ID
UniRef100_P15260 ,
UniRef100_Q14936 ,
PIR_NREF_ID
NF00093373,
NF00122355,
NF00125181,
NF01384664,
NF03284763,
UNIPROT_ID
INGR1_HUMAN ,
Q14936_HUMAN ,
Q53GX8_HUMAN ,
Q53Y96_HUMAN ,
Q7Z687_HUMAN ,
Q9BY69_HUMAN ,
CYTOBAND
6q23-q24,
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