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ProteinQ21103279· pop 22· linked from 91 articles

Perforin 1

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Also known as perforin 1 (pore forming protein), PFP, lymphocyte pore-forming protein, cytolysin, lymphocyte pore forming protein, perforin-1, PRF1, perforin

Perforin-1 (PRF) is a pore-forming protein encoded in humans by the PRF1 gene. It is stored in the secretory granules of cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells, collectively known as cytotoxic lymphocytes (CLs). Upon activation, these cells release perforin to form pores in the membranes of target cells, enabling the entry of granzymes that trigger apoptosis. Perforin is therefore a central effector molecule of the immune system, essential for the elimination of virus-infected and transformed cells. Mutations in PRF1 that impair perforin expression or function are associa

Protein · UniProt

Perforin-1

Gene
PRF1
Organism
Homo sapiens (Human)
Length
555 aa
Molecular mass
61,377 Da
Evidence
1: Evidence at protein level

Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:20889983, PubMed:21037563, PubMed:24558045, PubMed:9058810, PubMed:9164947). 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…

CalciumCell membraneCytolysisDisease variantDisulfide bondEGF-like domainEndosomeFamilial hemophagocytic lymphohistiocytosis
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Swiss-Prot (reviewed) · via UniProt

Clinical Trials

2 registered

via ClinicalTrials.gov

~7 min read

Encyclopedic overview

15 sections
Contents
  • Discovery
  • Structure
  • Function
  • Clinical significance
  • Familial hemophagocytic lymphohistiocytosis
  • Perforinopathy
  • Acute
  • Sub-acute
  • Chronic
  • Cancer
  • Interactions
  • See also
  • References
  • Further reading
  • External links

Perforin-1 (PRF) is a pore-forming protein encoded in humans by the PRF1 gene. It is stored in the secretory granules of cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells, collectively known as cytotoxic lymphocytes (CLs). Upon activation, these cells release perforin to form pores in the membranes of target cells, enabling the entry of granzymes that trigger apoptosis. Perforin is therefore a central effector molecule of the immune system, essential for the elimination of virus-infected and transformed cells. Mutations in PRF1 that impair perforin expression or function are associated with familial hemophagocytic lymphohistiocytosis (FHL) and related immune dysregulation syndromes, a spectrum of conditions sometimes collectively referred to as perforinopathies.

== Discovery == Perforin was initially discovered in 1983 and subsequently cloned from an expression library in 1988 using anti-complement C9 antibody cross-reactivity. A sequence comparison showed a notable resemblance between the two proteins in a specific central region, termed the 'membrane attack complex/perforin' (MACPF) domain.

Excerpted from Wikipedia’s “Perforin 1” article, available under the CC BY-SA 4.0 licence.