Perforin-1

PRF1
Identifiers
Aliases	PRF1, FLH2, HPLH2, P1, PFN1, PFP, perforin 1
External IDs	OMIM: 170280; MGI: 97551; HomoloGene: 3698; GeneCards: PRF1; OMA:PRF1 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	70,602,759 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	61,140,459 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; blood; ; spleen; ; decidua; ; bone marrow cell; ; buccal mucosa cell; ; apex of heart; ; lymph node; ; superficial temporal artery; ; upper lobe of left lung;
	Top expressed in
	gastrula; ; decidua; ; blood; ; lumbar subsegment of spinal cord; ; embryo; ; spleen; ; lymph node; ; subcutaneous adipose tissue; ; thymus; ; right lung;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; metal ion binding; calcium ion binding; wide pore channel activity; identical protein binding;
Cellular component	integral component of membrane; extracellular region; endosome; plasma membrane; endosome lumen; membrane; cytosol; cytoplasmic vesicle; cytolytic granule;
Biological process	cellular defense response; immunological synapse formation; cytolysis; apoptotic process; transmembrane transport; positive regulation of killing of cells of other organism; defense response to tumor cell; immune response to tumor cell; protein homooligomerization; defense response to virus; T cell mediated cytotoxicity;
	Sources:Amigo / QuickGO
Orthologs
	5551
	18646
	ENSG00000180644
	ENSMUSG00000037202
	P14222
	P10820
	NM_005041; NM_001083116
	NM_011073
	NP_001076585; NP_005032
	NP_035203
	Wikidata
View/Edit Human	View/Edit Mouse

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.