Recombinant Human Perforin-1(PRF1)

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Code CSB-BP018668HU
Size US$1478
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names PRF1
Uniprot No. P14222
Research Area Immunology
Alternative Names Cytolysin; FLH2; HPLH2; Lymphocyte pore-forming protein; P1; PERF_HUMAN; perforin 1 (pore forming protein); Perforin 1; Perforin-1; PFP; PGFL; PIGF; PIGF-2; PLGF; Pore forming protein; prf1; SHGC-10760
Species Homo sapiens (Human)
Source Baculovirus
Expression Region 22-555aa
Target Protein Sequence PCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 103.2 kDa
Protein Length Full Length of Mature Protein
Tag Info N-terminal MBP-tagged and C-terminal 6xHis-tagged
Form 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.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time Basically, we can dispatch the products out in 3-7 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.
Notes 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.

Target Data

Function Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.
Gene References into Functions
  1. Perforin binds to membranes and undergoes substantial structural re-arrangement to form pores that enable diffusion of granzyme into the target cell [Review]. PMID: 28757431
  2. findings show that N-linked glycosylation of the perforin C-terminus at Asn549 within the endoplasmic reticulum inhibits oligomerisation of perforin monomers and protects the host cell from premature pore formation; studies reveal a post-translational regulatory mechanism essential for maintaining perforin in an inactive state until its secretion from the inhibitory acidic environment of the secretory granule PMID: 28808112
  3. Study focuses on the role of perforin in both protecting and promoting human disease. It concludes with a novel hypothesis that diversity observed in the PRF1 gene may be an example of selective advantage that protects an individual from perforin-mediated pathology, such as blood-brain barrier disruption. [review] PMID: 28757574
  4. Our studies suggest that although moderate levels of expression can result in partial amelioration of the hemophagocytic lymphohistiocytosis (HLH)phenotype, high levels of perforin expression per cell are required for complete correction of HLH. PMID: 27471778
  5. Findings support an association between childhood DNA methylation patterns in PRF1 and a record of severe respiratory syncytial virus bronchiolitis in infancy. PMID: 28253869
  6. our data provide the first evidence of a strict link between the absence of CD28 and the expression of perforin, which is likewise enhanced by the expression of NKG2D, within selected CD4(+) T cells from cervical cancer patients. PMID: 28087292
  7. A girl with neurological manifestations of familial hemophagocytic lymphohistiocytosis 2 had reduced perforin 1 expression and was found to be homozygous for a mutation in PRF1 at codon 637 in exon 3 (c.673C>T p.Arg225Trp). Her non-consanguineous parents were both heterozygous carriers of this mutation. PMID: 27271812
  8. Mutation in PRF1 gene is associated with hemophagocytic lymphohistiocytosis. PMID: 27781387
  9. Increased TIM3+CD8+T cells with lower perforin and granzyme B expression and higher CD95 expression in MDS patients were observed. PMID: 27846431
  10. ITP patients displayed an increased frequency of rare missense variations of the PRF1 gene PMID: 27391055
  11. The decreased expression of perforin in circulating CD3+CD8+ positive T cells is an important biomarker of damaged antitumor immunity in advanced lung cancer. PMID: 26586704
  12. Letter/Case Report: recurrent episodes of macrophage activation syndrome in peripheral spondyloarthritis with monoallelic missense mutations in PRF1. PMID: 26752080
  13. A new heterozygous mutation (c.916G>A and c.65delC) was identified as familial hemophagocytic lymphohistiocytosis type 2 causing defect. PMID: 26739415
  14. mutations result in severe chronic active Epstein-Barr virus disease PMID: 25947952
  15. mutations result in hemophagocytic lymphohistiocytosis PMID: 25975970
  16. PRF delivers granulysin and granzymes into parasite infected cells to kill the parasite. PMID: 26752517
  17. Among SLAMF4+ cells, the T cell fraction positive for perforin and granzyme B was higher in those obtained from healthy donors compared to SLE patients. PMID: 26314831
  18. elevated in the inflammatory lesions of placentas with villitis of unknown etiology PMID: 25725937
  19. monoallelic mutations of PRF1 decrease NK-cell cytotoxicity should be considered in individuals presenting with the manifestations of immune deficiency states that impinge on NK-cell cytotoxicity. PMID: 25776844
  20. Calcific aortic valve disease is characterized by increased expression of granzymes and perforin. PMID: 26897841
  21. linking PRF1 missense mutations to lymphoma susceptibility and highlighting clinical variability within families. PRF1 mutations should, therefore, be considered as a cause of several diseases disparate to HLH. PMID: 26184781
  22. identified among the key genes in circulating monocytes that were altered by exercise PMID: 26207425
  23. PRF1 mutations are associated with hemophagocytic lymphohistiocytosis. PMID: 26450956
  24. There is no association between gene polymorphisms of PRF1 gene and the susceptibility to hemophagocytic lymphohistiocytosis PMID: 26182270
  25. A wide heterogeneity was observed in the nature of perforin gene mutations in familial hemophagocytic lymphohistiocytosis patients in India. PMID: 25577959
  26. Synthetic consensus HIV-1 DNA induces potent cellular immune responses and synthesis of granzyme B, perforin in HIV infected individuals. PMID: 25531694
  27. analysis of the differential expression by sex of perforin in relapsed multiple sclerosis in CD4+ regulatory T cells PMID: 22837658
  28. The entire coding region of PRF1 was sequenced in 94 patients and 158 controls; missense variations leading to amino acid substitutions and one nonsense variation resulting in a premature stop codon found, data suggest that PRF1 variations may influence chronic inflammatory demyelinating polyradiculoneuropathy development and course PMID: 25354579
  29. PFN appears to form arc structures on target membranes that serve as minimally disrupting conduits for GzmB translocation. PMID: 25146929
  30. Perforin expression in CD4+ and CD8+ cells is a prognostic biomarker for head and neck cancer patient survival. PMID: 25344268
  31. Defining the interaction of perforin with calcium and the phospholipid membrane. PMID: 24070258
  32. findings suggest that the g.272C>T PRF1 gene single-nucleotide variation in combination with other gene alterations could increase the risk of developing nasal NK/T-cell lymphoma, at least in a subgroup of the Spanish population PMID: 24632576
  33. This study shows variety of clinical manifestations of perforin deficiency and although the onset of hemophagocytic lymphohistiocytosis is delayed in these patients. PMID: 24390453
  34. our data indicate that the co-expression of perforin and granzyme B genes exhibits anticancer potential PMID: 24696715
  35. miR-150 is a common post-transcriptional regulator for Prf1 in mouse and human NK cells that represses NK cell lytic activity. PMID: 24698324
  36. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. PMID: 24916509
  37. PRF1 is overexpressed in systemic lupus erythematosus CD4+ T cells, but expression is not linked to the typical clinical and serological parameters associated with the disease. PMID: 24238281
  38. These data show that monoallelic germline mutations of PRF1 are frequent in patients with childhood anaplastic large cell lymphoma, suggesting that partially impaired cytotoxic machinery may represent a predisposing factor for it. PMID: 24309606
  39. Exome sequencing identified a biallelic perforin1 mutation (PRF1; p.R225W) previously associated with familial hemophagocytic lymphohistiocytosis. PMID: 23443029
  40. Data suggest that acidic pH microenvironment of natural killer (NK) cells enhances Cryptococcus-induced perforin degranulation suggesting that perforin degranulation is involved in the greater immunologic cytotoxic activity of NK cells in acidic pH. PMID: 23853583
  41. The increased percentage of CD3(-)CD56(dim) NK cells expressing perforin in patients affected by the progressive forms of MS suggests a possible role of this NK cell subpopulation in the pathogenesis of the disease. PMID: 24157130
  42. Perforin I polymorphism is associated with graft rejection in kidney transplant recipients. PMID: 23528102
  43. Missense mutations of Perforin codon His222 may lead to intrauterine presentation of familial hemophagocytic lymphohistiocytosis PMID: 23073042
  44. Calculated stability (free energy) changes show that the mutations mainly destabilize the protein structure, interestingly however, A91V polymorphism, leads to a more stable one. PMID: 23592409
  45. The mRNA and protein expression of perforin significantly increases in CD4(+) and CD8(+) T cells treated with 5-azaC, which is associated with DNA hypomethylation of perforin promoter in T cells. PMID: 17213580
  46. This study defines the final sequence of events controlling cytotoxic lymphocyte immune defense, in which perforin pores assemble on the target cell plasma membrane, ensuring efficient delivery of lethal granzymes. PMID: 23377437
  47. Chlamydia trachomatis-infected tissues have significantly higher numbers of CD3 and CD8 T cells compared to non-infected tissues (p<0.01), and that the majority of CD8+ cells do not express perforin in situ. PMID: 23216954
  48. FCgammaR3A and PRF1 may participate in the pathogenesis and progression of primary biliary cirrhosis. PMID: 23179144
  49. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. PMID: 23160464
  50. study identified a common PRF1 haplotype in unrelated families with atypical presentation of Familial hemophagocytic lymphohistiocytosis type 2 in Colombia PMID: 22437823
  51. Data show that upregulation of sCD30, iATP, granzyme B, perforin, and downregulation of HLA-G5 could provide valuable diagnostic standards to identify those recipients in the risk of acute rejection (AR). PMID: 22759804
  52. IL-2 can enhance cytotoxicity of cord blood NK cells by increasing perforin expression. PMID: 21867635
  53. These results suggest a great diagnostic potential for perforin mRNA detection as a reliable marker of acute rejection in renal allograft recipients. PMID: 22768097
  54. Expression of PRF in human cancer cells induces cell growth inhibition and cell death, as evidenced by chromosome condensation and DNA fragmentation, increased caspase-3 activity, and the release of AIF and cytochrome c from the mitochondria. PMID: 22829880
  55. Perforin plays a dominant role in CD8+ T cell-mediated lysis of hepatitis C virus-replicating human hepatoma cells but that lysis may be limited in human chronic viral infection by the low perforin expression. PMID: 22425625
  56. Expression of PFN was significantly increased in severe preeclampsia. PMID: 22169516
  57. Described is a case of hemophagocytic lymphohistiocytosis-associated severe pulmonary hypertension paralleling Epstein-Barr virus (EBV) reactivation in a 52-year-old male in whom a novel perforin missense mutation was found (PRF1 1517C>T). PMID: 22359105
  58. Seven novel mutations in PRF1, UNC13D, and XIAP were identified in Chinese EBV-HLH patients. Only a fraction of Chinese children with EBV-HLH have genetic defects in PRF1, UNC13D, and XIAP. PMID: 21674762
  59. Perforin activity at membranes leads to invaginations and vesicle formation. PMID: 22173634
  60. Granzyme B-deficient mice, and to a lesser extent perforin-deficient mice, exhibit a significant increase in the number of antigen-specific CD8+ T cells in the lungs and draining lymph nodes of virally infected animals. PMID: 22084442
  61. Structures that PFN oligomers form in the membrane bilayer may include arcs previously observed by electron microscopy and these unusual structures represent an incomplete mixture of plasma membrane lipid. PMID: 21931672
  62. MS is characterized by a dysregulation of CD8+CD56-perforin+ T cells that may play a role in the development of disability. PMID: 22001684
  63. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). PMID: 21881043
  64. Human microRNA (miR)-27a* is a negative regulator of NK-cell cytotoxicity by silencing Prf1 and GzmB expression. PMID: 21960590
  65. Perforin gene mutation may be one risk factor in the aberrant proliferation and activation of cytotoxic T cells in pathogenesis of some patients with aplastic anemia. PMID: 21518502
  66. findings showed low frequency of P+ lymphocytes in prostate tissue of BPH and PCa patients could be consequence of local tissue microenvironment and 1 of the mechanisms involved in pathogenesis of prostate hyperplasia following malignant alteration PMID: 21535078
  67. Patients with non-ST elevation myocardial infarction have a strong and prolonged perforin-mediated systemic inflammatory reaction, which may sustain autoaggressive reactions towards myocardial tissue during the development of myocardial infarction. PMID: 21388427
  68. Investigated the presence of perforin in peripheral blood lymphocytes after acute myocardial infarction. Detected an early decrease of perforin-positive lymphocytes in STEMI patients in contrast with their persisting elevation among NSTEMI patients. PMID: 21661365
  69. association between PRF1 gene polymorphisms and HIV-1 vertical transmission PMID: 21157294
  70. Transgenic natural killer (NK) cells shape CD8-positive T cell fate by killing recently activated CD8-positive T cells in a perforin- and NKG2D-dependent manner. PMID: 21307295
  71. Upregulation of perforin is associated with acute pancreas allograft rejection. PMID: 20497195
  72. The number of apoptotic body clusters in oral lesions of chronic graft vs host disease patients was positive correlated with connective tissue perforin. PMID: 20618609
  73. Our results suggest that mutations in PRF1 may play a role in the pathogenesis of acute lymphoblastic leukemia PMID: 20638125
  74. We did not find a correlation between PRF1 transcripts and proteins in CD4(+) T cells and systemic lupus erythematosus disease activity. PMID: 20049450
  75. Granule-bound cathepsins are essential for processing perforin to its active form, and that CatL is an important, but not exclusive, participant in this process. PMID: 20497254
  76. These findings suggest a gender dimorphism in the PRF1 association with multiple sclerosis PMID: 20921521
  77. is not present among cytolytic NK cells-derived molecules in patients with HIV-associated pulmonary tuberculosis PMID: 20229057
  78. It was possible to activate adsorbed PFN and to induce membrane permeabilization by simply raising pH to a physiological level (pH 7.4). PMID: 20580434
  79. the capability of HIV-specific CD8(+) T-cells to rapidly express perforin defines a novel correlate of control in HIV infection PMID: 20523897
  80. Human CD4(+)CD25(high) Treg and CD4(+)CD25(neg) responder T cells reciprocally regulate death/growth arrest by differentially utilizing the granzyme-perforin pathway depending on IL-2 concentrations. PMID: 20225066
  81. Preformed perforin granules predominate in unstimulated natural killer (NK) cells which are not producing cytokines; recycling endosomes are not needed for release of perforin from preformed granules. PMID: 20368273
  82. The differential propensity of CD8(+) T cells to produce either IL-2 or perforin is in part related to levels of CD28 and the transcription factor T-bet in viral infections PMID: 20221423
  83. Results describe the relationship between the expression of IFN-gamma, IL-4, Foxp3 and perforin genes and the methylation status of their promoters in immune thrombocytopenic purpura (ITP) patients. PMID: 20100010
  84. Data suggest the role of Perforin + cytotoxic T lymphocytes and CD134+ cells in the pathogenesis of autoimmunity of SLE. PMID: 20306696
  85. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. PMID: 20092789
  86. GZMB contributes to abdominal aortic aneurysm pathogenesis via a perforin-independent mechanism involving extracellular matrix degradation and subsequent loss of vessel wall integrity. PMID: 20035050
  87. six novel mutations in children with haemophagocytic lymphohistiocytosis PMID: 11565555
  88. expressed during acute cellular rejection episodes after kidney transplantation PMID: 12009596
  89. The fraction of perforin-expressing HIV-specific CD8 T cells is a marker for disease progression in HIV infection PMID: 12131187
  90. detection of transcript levels of this gene in peripheral blood lymphocytes in patients with renal allografts PMID: 12270380
  91. Although high frequencies of HIV-specific CD8+ T cells were present in nonprogressors and progressors, only those of nonprogressors maintained a high proliferative capacity. This proliferation was coupled to increases in perforin expression. PMID: 12368910
  92. IL-12-induced expression of the perforin gene in NK cells is directly regulated by STAT4 PMID: 12372421
  93. A study using a combination of hereditary perforin-deficient effector cells and Fas-deficient target cells reveals the essential roles of perforin in antigen-specific cytotoxicity mediated by human CD4+ as well as CD8+ cytotoxic T lymphocytes. PMID: 12574394
  94. Perforin positive cells may participate in the acute phase of RA by maintaining and perpetuating inflammation and contributing to tissue destruction. PMID: 12672182
  95. Expressed in blood as a marker of kidney transplantation rejection. PMID: 12919092
  96. PMNs contain perforin and granzyme B, the 2 molecules known as the cytotoxic entity of natural killer cells and of cytotoxic T lymphocytes PMID: 14512315
  97. A decrease in perforin expression by cytotoxic cells could be a major factor in explaining the physiopathologic mechanisms of several alcohol-associated diseases. PMID: 14634500
  98. Levels predict acute rejection in small intestine transplants. PMID: 14697980
  99. Hemophagocytic lymphohistiocytosis patients with PRF1 mutations demonstrated absent or markedly decreased natural killer cell function. PMID: 14757862
  100. examined the correlation between injury of the hepatocytes and mRNA expression of FasL and perforin/granzyme B in liver tissue to investigate the roles of both the FasL and the perforin/granzyme B pathways in chronic hepatitis B PMID: 14996347

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Involvement in disease Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Subcellular Location Cytoplasmic granule lumen, Secreted, Cell membrane, Multi-pass membrane protein, Endosome lumen
Protein Families Complement C6/C7/C8/C9 family
Database Links

HGNC: 9360

OMIM: 170280

KEGG: hsa:5551

STRING: 9606.ENSP00000316746

UniGene: Hs.2200

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