Property Summary

NCBI Gene PubMed Count 177
Grant Count 164
R01 Count 90
Funding $30,876,909.01
PubMed Score 1480.78
PubTator Score 382.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
cutaneous lupus erythematosus 3.000 0.000
psoriasis -1.100 0.002
osteosarcoma -2.592 0.001
non-small cell lung cancer -1.372 0.000
colon cancer -1.400 0.043
lung cancer -2.500 0.000
interstitial cystitis 1.200 0.002
lung adenocarcinoma -1.652 0.000
lung carcinoma -1.700 0.000

Synonym

Accession P14222 B2R6X4 Q59F57 Q86WX7 P1
Symbols P1
PFP
FLH2
PFN1
HPLH2

Gene

 IMPC Term (1)

Gene RIF (163)

PMID Text
26897841 Calcific aortic valve disease is characterized by increased expression of granzymes and perforin.
26752517 PRF delivers granulysin and granzymes into parasite infected cells to kill the parasite.
26752080 Letter/Case Report: recurrent episodes of macrophage activation syndrome in peripheral spondyloarthritis with monoallelic missense mutations in PRF1.
26739415 A new heterozygous mutation (c.916G>A and c.65delC) was identified as familial hemophagocytic lymphohistiocytosis type 2 causing defect.
26586704 The decreased expression of perforin in circulating CD3+CD8+ positive T cells is an important biomarker of damaged antitumor immunity in advanced lung cancer.
26450956 PRF1 mutations are associated with hemophagocytic lymphohistiocytosis.
26314831 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.
26207425 identified among the key genes in circulating monocytes that were altered by exercise
26184781 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.
26182270 There is no association between gene polymorphisms of PRF1 gene and the susceptibility to hemophagocytic lymphohistiocytosis
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AA Sequence

MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPD      1 - 70
GTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPT     71 - 140
SNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQP    141 - 210
AYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACE    211 - 280
EKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLL    281 - 350
DSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT    351 - 420
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRD    421 - 490
DDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW         491 - 555
//

Text Mined References (183)

PMID Year Title
26897841 2015 Expression and Localization of Granzymes and Perforin in Human Calcific Aortic Valve Disease.
26752517 2016 Killer lymphocytes use granulysin, perforin and granzymes to kill intracellular parasites.
26752080 Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case.
26739415 2016 Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
26586704 2015 Advanced Lung Cancer Is Associated with Decreased Expression of Perforin, CD95, CD38 by Circulating CD3+CD8+ T Lymphocytes.
26450956 2015 Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.
26314831 2016 Selective Loss of Signaling Lymphocytic Activation Molecule Family Member 4-Positive CD8+ T Cells Contributes to the Decreased Cytotoxic Cell Activity in Systemic Lupus Erythematosus.
26207425 2015 Brief Exercises Affect Gene Expression in Circulating Monocytes.
26184781 2015 Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
26182270 2015 [Association between gene polymorphisms of Perforin 1 and hemophagocytic lymphohistiocytosis].
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