Recombinant Human IFNGR1 Protein (C-6His)

Name: Recombinant Human IFNGR1 Protein (C-6His)
Brand: Beta LifeScience
SKU: BL-1599NP
Availability: InStock

BL-1599NP: Greater than 95% as determined by reducing SDS-PAGE. (QC verified)

Collections: Cytokines, Cytokines and growth factors, Interferons and receptors (ifn), Recombinant proteins

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Product Overview

Description	Recombinant Human Interferon Gamma Receptor 1 is produced by our Mammalian expression system and the target gene encoding Glu18-Ser245 is expressed with a 6His tag at the C-terminus.
Accession	P15260
Synonym	Interferon gamma receptor 1; IFNGR1; CDw119; CD119
Gene Background	Interferon gamma receptor 1(IFNGR1) encoded by the IFNGR1 gene, is a single-pass type 1 membrane protein which belongs to the type II cytokine receptor family. IFNGR1 is phosphorylated at Ser/Thr residues after translation. IFNGR1 is a receptor for interferon gamma, two receptors bind one interferon gama dimer. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection.
Molecular Mass	26.8 KDa
Apmol Mass	40-50 KDa, reducing conditions
Formulation	Supplied as a 0.2 μm filtered solution of 20mM PB, 150mM NaCl, pH 7.4.
Endotoxin	Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test.
Purity	Greater than 95% as determined by reducing SDS-PAGE. (QC verified)
Biological Activity	Not tested
Reconstitution
Storage	Store at ≤-70°C, stable for 6 months after receipt.Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles.
Shipping	The product is shipped on dry ice/polar packs.Upon receipt, store it immediately at the temperature listed below.
Usage	For Research Use Only

Target Details

Target Function	Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. Associates with transmembrane accessory factor IFNGR2 to form a functional receptor. Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signaling components JAK1 and JAK2. In turn, activated JAK1 phosphorylates IFNGR1 to form a docking site for STAT1. Subsequent phosphorylation of STAT1 leads to dimerization, translocation to the nucleus, and stimulation of target gene transcription. STAT3 can also be activated in a similar manner although activation seems weaker. IFNGR1 intracellular domain phosphorylation also provides a docking site for SOCS1 that regulates the JAK-STAT pathway by competing with STAT1 binding to IFNGR1.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.
Protein Families	Type II cytokine receptor family
Database References	HGNC: 5439 OMIM: 107470 KEGG: hsa:3459 STRING: 9606.ENSP00000356713 UniGene: Hs.520414
Associated Diseases	Immunodeficiency 27A (IMD27A); Immunodeficiency 27B (IMD27B)

Gene Functions References

discovered that a rare variant c.G40A in interferon gamma receptor 1 potentially contributes to the myasthenia gravis pathogenesis PMID: 29441481
Positive reaction in interferon-gamma release tests is not associated with IFNGR1 SNPs. PMID: 29209098
All known mutations, as well as 287 other variations, have been deposited in the online IFNGR1 variation database . In this article, we review the function of IFN-gammaR1 and molecular genetics of human IFNGR1. PMID: 28744922
results showed a significant correlation between IFNGR1- T-56CSNP and Nontuberculous mycobacteria infection among studied populations PMID: 28719321
B cell type 1 IFN receptor signals accelerate, but are not required for, lupus development. PMID: 27069113
The study did not provide enough powerful evidence to identify a significant association between IFNGR1 -56C/T polymorphism and tuberculosis susceptibility (meta-analysis). PMID: 25382336
All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution PMID: 27356097
The deletion of IFNGR1 causes complete IFN-gammaR1 deficiency. Despite the deletion ending very close to the IL22RA2 gene, it does not appear to affect IL22RA2 transcription. PMID: 26931784
A significant association of IFN-gammaR1 and P2X7 genes polymorphisms with risk of developing TB in Iranian population. PMID: 27020872
Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene. PMID: 26251056
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum PMID: 26343451
Statistical analyses revealed that four genetic variants in IFNGR1 were marginally associated with the risk of Tuberculosis (P = 0.02-0.04), while other single nucleotide polymorphisms in IFNGR1 and IFNGR2 did not exhibit any associations PMID: 25815589
FcgammaRIIa cross-talk with TLRs, IL-1R, and IFNgammaR selectively modulates cytokine production in human myeloid cells. PMID: 25108563
In an African-American population, a significant difference in IFNGR1 expression between patients with RA and controls. However, IFNGR1 expression levels were not statistically significantly associated with erosion status or other radiographic outcomes. PMID: 25708927
Intact IFN-gammaR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease. PMID: 24254535
Genetic polymorphisms in IFNGR1 gene are involved in the risk of tuberculosis in the Chinese population. PMID: 24680779
work aimed to evaluate single nucleotide polymorphisms (SNPs) of IFNGR1, GSTT1, and GSTP1 genes samples in gastric cancer PMID: 24453034
A novel heterozygous frameshift mutation (805delT) encoding the IFN-gamma receptor 1 (IFNGR1) was identified, presenting in a case of Mycobacterium intracellulare infection. PMID: 24220318
An association study of functional polymorphic genes .... IFNGR-1, ...... with disease progression, aspartate aminotransferase, alanine aminotransferase, and viral load in chronic hepatitis B and C. PMID: 23040881
Interaction of IFNgammaR1 with TRAF6 regulates NF-kappaB activation and IFNlambdaR1 stability. PMID: 22644879
A novel endocytosis motif shares characteristics of tyrosine-based and dileucine-based internalization sequences and is highly conserved in IFN-gamma receptors across species. PMID: 22595141
IFNGR1 is a modifier gene of cystic fibrosis disease. PMID: 21731057
The Japanese patients with a genetic mutation in the IFN-gamma-R1 gene were more susceptible to developing recurrent disseminated mycobacterial infections. PMID: 21221749
Single nucleotide polymorphism in IFNGR1 gene is associated with rectal cancer. PMID: 21859832
CD74 gene over-expression in TEC can increase IFN-gammaR mRNA expression PMID: 21722521
The autosomal recessive disorder, because of a single mutation in interferon-gamma receptor-1(IFNGR1) at position -56, was found to be associated with susceptibility to leprosy in children of the same family. PMID: 21460021
IL-29 up-regulated, whereas IFNalpha down-regulated, the surface expression of the IFNgamma receptor 1 chain on macrophages, thereby resulting in differential responsiveness of TLR-challenged macrophages to IFNgamma. PMID: 21190998
results do not show an implication of IFNGR1gene polymorphisms in the susceptibility to and clinical expression of giant cell arteritis PMID: 20412699
Clinical trial of gene-disease association. (HuGE Navigator) PMID: 20399512
study showed a positive association between -56C/C genotype of IFNGR1 (OR = 1.7; 95% CI = 1.1-2.7) and pre-eclampsia. PMID: 20070287
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. PMID: 20015550
A case-control association analysis failed to detect significant association between the IFNGR1 polymorphisms and cerebral malaria in the Thai population PMID: 19712753
partial IFNGR1 mutations in Japanese patients with BCG osteomyelitis PMID: 11865431
IFNGR1 gene promoter polymorphisms may be assocaited with susceptibility to cerebral malaria PMID: 12023780
Mutations in interferon-gamma receptor 1. PMID: 12027427
This study identified a further role of IFN-gamma on IL-4 responses, including reduced IL-4R surface expression by human monocytes. PMID: 12034035
Lipid microdomains are required sites for the selective endocytosis and nuclear translocation of IFN-gamma receptor-1. PMID: 12165521
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. PMID: 12244188
FRET was used to demonstrate that the IFNGR chains were preassembled on the cell membrane. PMID: 12438563
suppressed by 2- to 3-fold in B-cell chronic lymphocytic leukemia cells, which is expected to increase CLL cell survival PMID: 12454749
Genome analysis identified polymorphism in the human interferon gamma receptor affecting Helicobacter pylori infection. PMID: 12516030
Mutations have no association with the susceptibility to lepromatous leprosy in the Korean population. PMID: 12743658
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. PMID: 12753505
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 PMID: 12851715
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. PMID: 14734726
disease susceptibility in Schistosoma mansoni infection to hepatic fibrosis is linked to a SNP in the interferon gamma receptor locus (P=0.000001). PMID: 15756299
The IFN-GammaR2 Arg64/Arg64 genotype does not determine susceptibility to SLE in Chinese people, and the combination of IFN-Gamma R2 Arg64/Arg64 genotype and IFN-Gamma R1 Val14/Val14 genotype does not, either. PMID: 15952126
The relationship between polymorphisms at IFNGR1 and susceptibility to pulmonary tuberculosis is reported in Iranian patients. PMID: 16233916
IFNGR1 does not contribute to susceptibility to rheumatoid arthritis in Caucasians, although a single nucleotide polymorphisms exist in this disease. PMID: 16563189
Novel tuberculosis association was found with the 56CC genotype of the IFNGR1 promotor. PMID: 16690980

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Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

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