Tchem PRF1 Perforin-1

Protein Summary

Description

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. 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. [provided by RefSeq, Aug 2017]

Uniprot Accession IDs

• P14222
• B2R6X4
• Q59F57
• Q86WX7
• P1

Gene Name

• PRF1

Ensembl ID

• ENST00000373209
• ENSP00000362305
• ENSG00000180644
• ENST00000441259
• ENSP00000398568

Symbol

• PFP
• P1
• PFP
• HPLH2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.93
biological term	0.92
PubMedID	0.74
tissue sample	0.68
cell type or tissue	0.64

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3648.67   (req: < 5)

Gene RIFs: 174   (req: <= 3)

Antibodies: 539   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3648.67   (req: >= 5)

Gene RIFs: 174   (req: > 3)

Antibodies: 539   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 28

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0