PRF1, perforin 1

PRF1, perforin 1

• 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]

• Gene Synonyms (perforin-1, cytolysin, lymphocyte pore-forming protein, perforin 1 (pore forming protein), HPLH2, P1, PFP,)
• NCBI Gene ID: 5551
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P14222
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

perforin 1 interacts with:

• cysteine rich tail 1
  DEAD-box helicase 24
  F-box protein 6
  NBPF member 19
  notch 2 N-terminal like A
  perforin 1
  tripartite motif containing 54

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.