PRF1

This gene encodes a protein with structural similarities to complement component C9 that is important in immunity.

Perforin 1

Pore-forming protein that plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells (PubMed:9058810, PubMed:9164947, PubMed:20889983, PubMed:21037563).
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 (PubMed:9058810).
Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores (PubMed:20889983, PubMed:21037563).
Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes (PubMed:20038786, PubMed:20225066, PubMed:32299851).

Apoptotic processManual Assertion Based On ExperimentTAS:ProtInc
Cellular defense responseManual Assertion Based On ExperimentTAS:ProtInc
CytolysisIEA:UniProtKB-KW
Defense response to tumor cellISS:UniProtKB
Defense response to virusISS:UniProtKB
Immune response to tumor cellISS:UniProtKB
Immunological synapse formationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of killing of cells of another organismManual Assertion Based On ExperimentIDA:UniProtKB
Protein homooligomerizationManual Assertion Based On ExperimentIDA:UniProtKB
T cell mediated cytotoxicityManual Assertion Based On ExperimentIBA:GO_Central

Cytolytic granule
Secreted
Cell membrane
Endosome lumen
Stored in cytolytic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell (PubMed:20038786).
Inserts into the cell membrane of target cells and forms pores (PubMed:20889983).
Membrane insertion and pore formation requires a major conformation change (PubMed:20889983).
May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes (PubMed:20038786).

Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2):
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

N-glycosylated.