Recombinant Human Interferon gamma receptor 1 (IFNGR1), partial

中文名稱：

人IFNGR1重組蛋白
品名簡稱：

Recombinant Human IFNGR1 protein, partial
貨號：

CSB-MP011051HU1
說明書：

MSDS Datasheet
規格：

￥684
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

IFNGR1
Uniprot No.：

P15260
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

Mammalian cell
分子量：

29.0 kDa
表達區域：

18-245aa
氨基酸序列

EMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFNSSIKG
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

C-terminal 6xHis-Flag-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
1. discovered that a rare variant c.G40A in interferon gamma receptor 1 potentially contributes to the myasthenia gravis pathogenesis PMID: 29441481
2. Positive reaction in interferon-gamma release tests is not associated with IFNGR1 SNPs. PMID: 29209098
3. 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
4. results showed a significant correlation between IFNGR1- T-56CSNP and Nontuberculous mycobacteria infection among studied populations PMID: 28719321
5. B cell type 1 IFN receptor signals accelerate, but are not required for, lupus development. PMID: 27069113
6. 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
7. All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution PMID: 27356097
8. 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
9. A significant association of IFN-gammaR1 and P2X7 genes polymorphisms with risk of developing TB in Iranian population. PMID: 27020872
10. Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene. PMID: 26251056
11. Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum PMID: 26343451
12. 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
13. FcgammaRIIa cross-talk with TLRs, IL-1R, and IFNgammaR selectively modulates cytokine production in human myeloid cells. PMID: 25108563
14. 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
15. Intact IFN-gammaR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease. PMID: 24254535
16. Genetic polymorphisms in IFNGR1 gene are involved in the risk of tuberculosis in the Chinese population. PMID: 24680779
17. work aimed to evaluate single nucleotide polymorphisms (SNPs) of IFNGR1, GSTT1, and GSTP1 genes samples in gastric cancer PMID: 24453034
18. 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
19. 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
20. Interaction of IFNgammaR1 with TRAF6 regulates NF-kappaB activation and IFNlambdaR1 stability. PMID: 22644879
21. 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
22. IFNGR1 is a modifier gene of cystic fibrosis disease. PMID: 21731057
23. The Japanese patients with a genetic mutation in the IFN-gamma-R1 gene were more susceptible to developing recurrent disseminated mycobacterial infections. PMID: 21221749
24. Single nucleotide polymorphism in IFNGR1 gene is associated with rectal cancer. PMID: 21859832
25. CD74 gene over-expression in TEC can increase IFN-gammaR mRNA expression PMID: 21722521
26. 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
27. 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
28. results do not show an implication of IFNGR1gene polymorphisms in the susceptibility to and clinical expression of giant cell arteritis PMID: 20412699
29. Clinical trial of gene-disease association. (HuGE Navigator) PMID: 20399512
30. 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
31. Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. PMID: 20015550
32. A case-control association analysis failed to detect significant association between the IFNGR1 polymorphisms and cerebral malaria in the Thai population PMID: 19712753
33. partial IFNGR1 mutations in Japanese patients with BCG osteomyelitis PMID: 11865431
34. IFNGR1 gene promoter polymorphisms may be assocaited with susceptibility to cerebral malaria PMID: 12023780
35. Mutations in interferon-gamma receptor 1. PMID: 12027427
36. This study identified a further role of IFN-gamma on IL-4 responses, including reduced IL-4R surface expression by human monocytes. PMID: 12034035
37. Lipid microdomains are required sites for the selective endocytosis and nuclear translocation of IFN-gamma receptor-1. PMID: 12165521
38. 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
39. FRET was used to demonstrate that the IFNGR chains were preassembled on the cell membrane. PMID: 12438563
40. suppressed by 2- to 3-fold in B-cell chronic lymphocytic leukemia cells, which is expected to increase CLL cell survival PMID: 12454749
41. Genome analysis identified polymorphism in the human interferon gamma receptor affecting Helicobacter pylori infection. PMID: 12516030
42. Mutations have no association with the susceptibility to lepromatous leprosy in the Korean population. PMID: 12743658
43. 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
44. 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
45. 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
46. 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
47. 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
48. The relationship between polymorphisms at IFNGR1 and susceptibility to pulmonary tuberculosis is reported in Iranian patients. PMID: 16233916
49. IFNGR1 does not contribute to susceptibility to rheumatoid arthritis in Caucasians, although a single nucleotide polymorphisms exist in this disease. PMID: 16563189
50. Novel tuberculosis association was found with the 56CC genotype of the IFNGR1 promotor. PMID: 16690980
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相關疾病：

Immunodeficiency 27A (IMD27A); Immunodeficiency 27B (IMD27B)
亞細胞定位：

Cell membrane; Single-pass type I membrane protein.
蛋白家族：

Type II cytokine receptor family
數據庫鏈接：

HGNC: 5439

OMIM: 107470

KEGG: hsa:3459

STRING: 9606.ENSP00000356713

UniGene: Hs.520414