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Perforin 1 OKDB#: 1055
 Symbols: PRF1 Species: human
 Synonyms: PORE-FORMING PROTEIN, PFP|  Locus: 10q22 in Homo sapiens


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General Comment Perforin-1 is one of the major cytolytic proteins of cytolytic granules. One of the main pathways of lymphocyte-mediated cytolysis entails the secretion onto target membranes of cytolytic granules contained in cytolytic effector lymphocytes of T-cell or NK-cell type. Perforin has a molecular weight of 70 to 75 kD and shows extensive similarity in structure to complement component C9 . PRF1 is a pore-forming protein with a mechanism of transmembrane channel formation similar to C9

General function Cell death/survival, Apoptosis
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Luteolysis
Comment Hameed A, et al 1995 reported perforin expression in human cell-mediated luteolysis. After ovulation and in the absence of fertilization, the human corpus luteum regresses in an orderly sequence of morphological changes. This study demonstrated that luteal regression involved progressive infiltration of lymphocytes and macrophages. The inflammatory infiltrate began in the theca externa and gradually invaded granulosa cells, with maximum accumulation of lymphocytes and macrophages at the time of menstruation. Immunoperoxidase staining showed that the majority of lymphocytes were CD2+, CD3+, CD8+ T lymphocytes, and 15% of these T cells expressed perforin, a cytolytic protein implicated as a mediator of cytotoxicity. The remaining mononuclear infiltrate showed strong reactivity with monocyte/macrophage markers. These findings indicate that (a) a physiologic cell-mediated inflammatory process in the regressing human corpus luteum is mediated mainly by CD8+ T lymphocytes and cells of monocyte/macrophage lineage and (b) perforin expression in T lymphocytes supports a possible role for cytolytic T cells during the physiologic inflammatory response in human luteolysis.
Expression regulated by
Comment
Ovarian localization Luteal infiltrate
Comment
Follicle stages Corpus luteum
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: fertile
Comment: To evaluate the role of perforin, Lowin et al. (1994) used gene targeting in embryonic stem cells to produce mice lacking perforin. Mice homozygous for the disrupted gene had no perforin mRNA. The mice were healthy, however, and activation and granzyme A secretion of perforin-free cytolytic T cells were unaltered. The killing activity of cytolytic T cells as well as of natural killer (NT) cells was impaired but not abolished.

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Nov. 7, 2000, 3:51 p.m. by: hsueh   email:
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last update: Aug. 14, 2001, 8:57 a.m. by: hsueh    email:



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