{"entity":{"id":"prf1","kind":"target","name":"PRF1","aka":["perforin 1","Perforin-1","P1","HPLH2"],"tldr":"PRF1 (Perforin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 2 more.","summary":"Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognised 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, oligomerise and form large pores.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.91, animal model 0.52, genetic association 0.41, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360"},{"label":"UniProt P14222","url":"https://www.uniprot.org/uniprotkb/P14222/entry"},{"label":"NCBI Gene 5551","url":"https://www.ncbi.nlm.nih.gov/gene/5551"},{"label":"Ensembl ENSG00000180644","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180644"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRF1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14222","url":"https://www.uniprot.org/uniprotkb/P14222/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000180644","url":"https://platform.opentargets.org/target/ENSG00000180644/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: gastric cancer 0.50, melanoma 0.53, non-Hodgkin lymphoma 0.68, skin cancer 0.55, leukaemia 0.63 (GraphQL API, CC0)"}],"hgnc":"HGNC:9360","ensembl":"ENSG00000180644","uniprot":"P14222","entrez":"5551","biology":"Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognised 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, oligomerise and form large pores. Promotes cytolysis and apoptosis of target cells by mediating the passage and uptake of cytotoxic granzymes. Facilitates the delivery of cationic cargo protein, while anionic or neural proteins are not delivered efficiently. Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu. Location: Cytolytic granule; Secreted; Cell membrane; Endosome lumen (UniProt). Locus 10q22.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},"route":"/targets/prf1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}