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RNA tissue category: Group enriched (spleen, lung)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (spleen)
GENE INFORMATION
Gene name
PRF1 (HGNC Symbol)
Synonyms
HPLH2, P1, PFP
Description
Perforin 1 (pore forming protein) (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Germline Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
