| Gene Symbol | PRF1 |
|---|---|
| Entrez Gene | 5551 |
| Alt Symbol | FLH2, HPLH2, P1, PFN1, PFP |
| Species | Human |
| Gene Type | protein-coding |
| Description | perforin 1 (pore forming protein) |
| Other Description | cytolysin|lymphocyte pore forming protein|lymphocyte pore-forming protein|perforin-1 |
| Swissprots | Q59F57 Q86WX7 P14222 B2R6X4 |
| Accessions | AAA60167 AGS13731 AGS13732 AHC72295 AHC72296 EAW54407 P14222 AB209604 BAD92841 AK312754 BAG35621 BC047695 AAH47695 BC063043 AAH63043 BQ051559 BQ654088 DA816891 DA941244 FJ555237 ACU25794 L40557 AAA63618 M28393 AAA60065 X13224 CAA31612 NM_001083116 NP_001076585 NM_005041 NP_005032 |
| Function | 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. {ECO:0000269|PubMed:20038786, ECO:0000269|PubMed:20225066, ECO:0000269|PubMed:20889983, ECO:0000269|PubMed:21037563, ECO:0000269|PubMed:9058810, ECO:0000269|PubMed:9164947}. |
| Subcellular Location | Cytoplasmic granule lumen. Secreted. Cell membrane; Multi-pass membrane protein. Endosome lumen. Note=Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes. |
| Top Pathways | Natural killer cell mediated cytotoxicity, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Type I diabetes mellitus |