Recombinant Human Perforin-1 (PRF1)

Uniprot Id

P14222

Target Species

Human

Target Name

PRF1

Target Full Name

Perforin-1

Target Function

Pore-forming protein that 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.

Target Involvement

Familial hemophagocytic lymphohistiocytosis 2 (FHL2)

Target Subcellular Location

Cytolytic granule. Secreted. Cell membrane; Multi-pass membrane protein. Endosome lumen.

Target Protein Families

Complement C6/C7/C8/C9 family

Target Research Area

Immunology

Target Synonyms

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

Target Background

This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood.