Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5551
MIM: 170280
HGNC: 9360
Ensembl: ENSG00000180644
Variants:
dbSNP: 5551
ClinVar: 5551
TCGA: ENSG00000180644
COSMIC: PRF1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000180644 | ENST00000373209 | P14222 |
| ENSG00000180644 | ENST00000441259 | P14222 |
| ENSG00000180644 | ENST00000638674 | A0A1W2PR25 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166182763 | emapalumab | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36631067 | 2023 | Baseline red blood cell distribution width and perforin, dynamic levels of interleukin 6 and lactate are predictors of mortality in patients with sepsis. | 2 |
| 36765484 | 2023 | [Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province]. | 0 |
| 37149695 | 2023 | Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. | 6 |
| 37390248 | 2023 | Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report. | 1 |
| 36631067 | 2023 | Baseline red blood cell distribution width and perforin, dynamic levels of interleukin 6 and lactate are predictors of mortality in patients with sepsis. | 2 |
| 36765484 | 2023 | [Gene Polymorphisms of Patients with Lymphoma-Associated Hemophagocytic Syndrome in Longyan area, Fujian Province]. | 0 |
| 37149695 | 2023 | Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. | 6 |
| 37390248 | 2023 | Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report. | 1 |
| 32785835 | 2021 | Immunohistochemical study of perforin and apoptosis stimulation fragment ligand (FasL)in active vitiligo. | 0 |
| 33566725 | 2021 | PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. | 10 |
| 33662167 | 2021 | Identification of CD56(dim) subpopulation marked with high expression of GZMB/PRF1/PI-9 in CD56(+) interferon-α-induced dendritic cells. | 3 |
| 34093532 | 2021 | A Profound Membrane Reorganization Defines Susceptibility of Plasmodium falciparum Infected Red Blood Cells to Lysis by Granulysin and Perforin. | 5 |
| 34339548 | 2021 | Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. | 3 |
| 34492245 | 2021 | Granzyme B and perforin produced by SEC2 mutant-activated human CD4(+) T cells and CD8(+) T cells induce apoptosis of K562 leukemic cells by the mitochondrial apoptotic pathway. | 1 |
| 34535957 | 2021 | Human intestinal and circulating invariant natural killer T cells are cytotoxic against colorectal cancer cells via the perforin-granzyme pathway. | 7 |
Citation
Dessen P
PRF1 (perforin 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41839/prf1-(perforin-1)
