Logo
full name
perforin 1

synonyms
FLH2, HPLH2, P1, PFN1, PFP, PRF1, ENSG00000180644

HGNC
HGNC:9360

Entrez Gene
Gene:5551

ENSEMBL
ENSG00000180644

location
chr: 10
start: 72357104
stop: 72362531
strand: -

OMIM
OMIM:170280: PRF1
OMIM:609135: Aplastic anemia
OMIM:603553: Hemophagocytic lymphohistiocytosis, familial, 2
OMIM:605027: Lymphoma, non-Hodgkin

transcripts
NM_005041.4
NM_001083116.1

pathways
Allograft rejection [NCBI:83123] [KEGG:hsa05330] [PUBMED:8835634] [PUBMED:12023610] [PUBMED:12563298] [PUBMED:17445565] [PUBMED:12216939] [PUBMED:14710779] [PUBMED:10746853] [PUBMED:10571983] [PUBMED:10331992] [PUBMED:10667806]
Apoptosis [NCBI:83060] [KEGG:hsa04210] [NCBI:1270262] [REACTOME:R-HSA-109581] [PUBMED:12189384] [PUBMED:20533903] [PUBMED:18208375] [PUBMED:22429822] [PUBMED:15218528] [PUBMED:24769728] [PUBMED:18023214] [PUBMED:25526085] [PUBMED:23070002] [PUBMED:15654015] [PUBMED:15601572] [PUBMED:14561771] [PUBMED:24278747] [PUBMED:21914490] [PUBMED:22465226] [PUBMED:21145844] [PUBMED:12838338] [PUBMED:18238895] [PUBMED:12949498] [PUBMED:18304445] [PUBMED:14737178] [PUBMED:26231733] [PUBMED:9916983] [PUBMED:14634621] [PUBMED:19770840] [PUBMED:22075987] [PUBMED:4561027] [PUBMED:20075940] [PUBMED:9894605] [PUBMED:26615431] [PUBMED:12505355] [PUBMED:11520933] [PUBMED:19148180] [PUBMED:16397578] [PUBMED:15719025] [PUBMED:15322527] [PUBMED:15725726] [PUBMED:12209154] [PUBMED:23803157]
Autoimmune thyroid disease [NCBI:83121] [KEGG:hsa05320] [PUBMED:15132715] [PUBMED:12192541] [PUBMED:17192582] [PUBMED:9534029] [PUBMED:11396701] [PUBMED:11913070] [PUBMED:15049952] [PUBMED:11577986] [PUBMED:15762980]
Caspase cascade in apoptosis [NCBI:137974] [Pathway Interaction Database:caspase_pathway] [PUBMED:7774019] [PUBMED:8626669] [PUBMED:9850096] [PUBMED:11803376] [PUBMED:15189451] [PUBMED:10564664] [PUBMED:9642276] [PUBMED:10567584] [PUBMED:12419244] [PUBMED:11423904] [PUBMED:9422506] [PUBMED:11438643] [PUBMED:9070648] [PUBMED:9588194] [PUBMED:11085743] [PUBMED:9298992] [PUBMED:9933635] [PUBMED:9528810] [PUBMED:9323209] [PUBMED:10809769] [PUBMED:8700869] [PUBMED:9463409] [PUBMED:10497198] [PUBMED:11953316] [PUBMED:9422513] [PUBMED:10409650] [PUBMED:11463840] [PUBMED:10611247] [PUBMED:8605870]
Downstream signaling in naive CD8+ T cells [NCBI:138018] [Pathway Interaction Database:cd8tcrdownstreampathway] [PUBMED:293720] [PUBMED:7935374] [PUBMED:12065418] [PUBMED:8566027] [PUBMED:12917261] [PUBMED:8394352] [PUBMED:8441422] [PUBMED:1386920] [PUBMED:8617294] [PUBMED:12732656] [PUBMED:7889942] [PUBMED:1737937] [PUBMED:1381507] [PUBMED:16210616] [PUBMED:11927626] [PUBMED:10477579] [PUBMED:10206983] [PUBMED:8376940] [PUBMED:9395475] [PUBMED:12972619] [PUBMED:8394845] [PUBMED:11485747] [PUBMED:15814665] [PUBMED:14645153] [PUBMED:2119889] [PUBMED:8208531] [PUBMED:10970869] [PUBMED:8612134] [PUBMED:8623163] [PUBMED:16237086] [PUBMED:16585578] [PUBMED:10544201] [PUBMED:8397339] [PUBMED:14605368] [PUBMED:12560487] [PUBMED:7982959]
Graft-versus-host disease [NCBI:83124] [KEGG:hsa05332] [PUBMED:14556773] [PUBMED:17784964] [PUBMED:14735553] [PUBMED:16412784] [PUBMED:17900507] [PUBMED:15372473] [PUBMED:16147539] [PUBMED:12359826] [PUBMED:15882431]
IL12 signaling mediated by STAT4 [NCBI:137936] [Pathway Interaction Database:il12_stat4pathway] [PUBMED:2504877] [PUBMED:7722452] [PUBMED:16365415] [PUBMED:9558063] [PUBMED:8700209] [PUBMED:9325300] [PUBMED:12213961] [PUBMED:10037767] [PUBMED:7737303] [PUBMED:10358173] [PUBMED:16641133] [PUBMED:12372421] [PUBMED:10946290] [PUBMED:11046021] [PUBMED:14660657] [PUBMED:15728489] [PUBMED:10097133] [PUBMED:11207258] [PUBMED:11801649] [PUBMED:11786644] [PUBMED:10229825] [PUBMED:11466347] [PUBMED:12716907] [PUBMED:8700208] [PUBMED:15522880]
IL2 signaling events mediated by STAT5 [NCBI:137988] [Pathway Interaction Database:il2_stat5pathway] [PUBMED:11160217] [PUBMED:16645171] [PUBMED:9121484] [PUBMED:17182565] [PUBMED:14607901] [PUBMED:9104808] [PUBMED:11485747] [PUBMED:14614860] [PUBMED:10679091] [PUBMED:12196288] [PUBMED:10072077] [PUBMED:10544201] [PUBMED:15004274] [PUBMED:9390691] [PUBMED:9395528] [PUBMED:10514006] [PUBMED:14500638] [PUBMED:16757175] [PUBMED:9541574] [PUBMED:8617294]
Natural killer cell mediated cytotoxicity [NCBI:83079] [KEGG:hsa04650] [PUBMED:12530970] [PUBMED:15567854] [PUBMED:8942070] [PUBMED:11905813] [PUBMED:9143705] [PUBMED:9862693] [PUBMED:11895890] [PUBMED:12205470] [PUBMED:11836514] [PUBMED:15607806] [PUBMED:16002670] [PUBMED:15618404] [PUBMED:11390470] [PUBMED:11062493] [PUBMED:14710949] [PUBMED:12752668] [PUBMED:15607802] [PUBMED:16109839] [PUBMED:12766758] [PUBMED:16177799]
TCR signaling in naive CD8+ T cells [NCBI:138055] [Pathway Interaction Database:cd8tcrpathway] [PUBMED:9094314] [PUBMED:15125833] [PUBMED:11994416] [PUBMED:7509360] [PUBMED:12755691] [PUBMED:8642247] [PUBMED:12361955] [PUBMED:11956228] [PUBMED:10072079] [PUBMED:8977171] [PUBMED:2141684] [PUBMED:8700169] [PUBMED:8164687] [PUBMED:9489702] [PUBMED:8702662] [PUBMED:2548204] [PUBMED:11175263] [PUBMED:8114715] [PUBMED:10209031] [PUBMED:15536066] [PUBMED:7678351] [PUBMED:8673703] [PUBMED:7830771] [PUBMED:7509083] [PUBMED:16733527] [PUBMED:9438848] [PUBMED:8790380] [PUBMED:1639064] [PUBMED:15980863] [PUBMED:8084588] [PUBMED:14702343] [PUBMED:10790433] [PUBMED:10807788] [PUBMED:16169499] [PUBMED:15802604] [PUBMED:8892604] [PUBMED:2114552] [PUBMED:12421919] [PUBMED:12917261] [PUBMED:8146197] [PUBMED:1335364] [PUBMED:10021361] [PUBMED:8183372] [PUBMED:8627172] [PUBMED:8898939] [PUBMED:2190221] [PUBMED:9710204] [PUBMED:11287959] [PUBMED:14764585] [PUBMED:12954628] [PUBMED:10209041] [PUBMED:1464315] [PUBMED:12507424] [PUBMED:12732656] [PUBMED:8195151] [PUBMED:12138205] [PUBMED:16005298] [PUBMED:9312149] [PUBMED:7544353] [PUBMED:16906149] [PUBMED:9637919] [PUBMED:12845325] [PUBMED:2470098] [PUBMED:10918068] [PUBMED:16116204] [PUBMED:16921383] [PUBMED:10562325] [PUBMED:9819387] [PUBMED:16582901] [PUBMED:8034711] [PUBMED:8479536] [PUBMED:10640739] [PUBMED:3919143] [PUBMED:10224278] [PUBMED:10811865]
Type I diabetes mellitus [NCBI:83095] [KEGG:hsa04940] [PUBMED:11507694] [PUBMED:8072542] [PUBMED:15889095] [PUBMED:15889096] [PUBMED:12796471] [PUBMED:14617043] [PUBMED:8786033] [PUBMED:9719467] [PUBMED:12752668]
Viral myocarditis [NCBI:125138] [KEGG:hsa05416] [PUBMED:19357408] [PUBMED:18545064] [PUBMED:18357777] [PUBMED:11524405] [PUBMED:12920582] [PUBMED:14522402] [PUBMED:17200452] [PUBMED:18039131] [PUBMED:16413486] [PUBMED:12439638] [PUBMED:16817756] [PUBMED:16845885] [PUBMED:10051305] [PUBMED:10904843]