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  4. Recombinant Human Interferon gamma receptor 1 (IFNGR1)

Recombinant Human Interferon gamma receptor 1 (IFNGR1)

  • 货号：
    CSB-CF011051HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    IFNGR1; Interferon gamma receptor 1; IFN-gamma receptor 1; IFN-gamma-R1; CDw119; Interferon gamma receptor alpha-chain; IFN-gamma-R-alpha; CD antigen CD119
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    18-489
  • 氨基酸序列
    EMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Immunodeficiency 27A (IMD27A); Immunodeficiency 27B (IMD27B)
  • 亚细胞定位：
    Cell membrane; Single-pass type I membrane protein.
  • 蛋白家族：
    Type II cytokine receptor family
  • 数据库链接：

    HGNC: 5439

    OMIM: 107470

    KEGG: hsa:3459

    STRING: 9606.ENSP00000356713

    UniGene: Hs.520414