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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
PFP
Cytolysin
FLH2
HPLH2
|
|
gptkbp:associatedWith
|
gptkb:familial_hemophagocytic_lymphohistiocytosis
autoimmune disorders
leukemia
viral infections
|
|
gptkbp:biologicalProcess
|
forms pores in target cell membranes
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for HLH
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
perforin protein
|
|
gptkbp:Entrez_Gene_ID
|
5551
ENSG00000180644
|
|
gptkbp:expressedIn
|
gptkb:natural_killer_cells
immune response
lymph nodes
spleen
cytotoxic T lymphocytes
peripheral blood leukocytes
|
|
gptkbp:fullName
|
perforin 1 gene
|
|
gptkbp:function
|
mediates cytolysis of target cells
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9366
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRF1 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
555 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:10q22
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autoimmune_lymphoproliferative_syndrome
nonsense
missense
rare
immunodeficiency
frameshift
splice site
|
|
gptkbp:OMIM
|
170280
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:pathway
|
immune system
cytotoxicity
granzyme-mediated apoptosis
|
|
gptkbp:product
|
perforin-1
|
|
gptkbp:regulates
|
regulated by transcription factor T-bet
upregulated by interleukin-15
upregulated by interleukin-2
|
|
gptkbp:UniProtID
|
P14222
|
|
gptkbp:bfsParent
|
gptkb:perforin
|
|
gptkbp:bfsLayer
|
6
|