Homo sapiens Gene: PRF1
Summary
InnateDB Gene IDBG-77451.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRF1
Gene Name perforin 1 (pore forming protein)
Synonyms FLH2; HPLH2; P1; PFN1; PFP;
Species Homo sapiens
Ensembl Gene ENSG00000180644
Encoded Proteins
perforin 1 (pore forming protein)
perforin 1 (pore forming protein)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:70597348-70602775
Strand Reverse strand
Band q22.1
Transcripts
ENST00000373209 ENSP00000362305
ENST00000441259 ENSP00000398568
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0022829 wide pore channel activity
Biological Process
GO:0002357 defense response to tumor cell
GO:0002418 immune response to tumor cell
GO:0006915 apoptotic process
GO:0006968 cellular defense response
GO:0019835 cytolysis
GO:0051260 protein homooligomerization
GO:0051607 defense response to virus
GO:0055085 transmembrane transport
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0031904 endosome lumen
GO:0044194 cytolytic granule
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Natural killer cell mediated cytotoxicity pathway
Type I diabetes mellitus pathway
Autoimmune thyroid disease pathway
Allograft rejection pathway
Graft-versus-host disease pathway
Viral myocarditis pathway
INOH
PID BIOCARTA
Granzyme a mediated apoptosis pathway [Biocarta view]
Caspase cascade in apoptosis [Biocarta view]
PID NCI
TCR signaling in na´ve CD8+ T cells
Caspase Cascade in Apoptosis
Downstream signaling in na´ve CD8+ T cells
IL12 signaling mediated by STAT4
IL2 signaling events mediated by STAT5
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.2200
RefSeq NM_001083116 NM_005041
HUGO
OMIM
CCDS CCDS7305
HPRD 01362
IMGT
EMBL
GenPept
RNA Seq Atlas