Homo sapiens Protein: PRF1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-379069.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PRF1 | ||||||||||||||||||||||
Protein Name | perforin 1 (pore forming protein) | ||||||||||||||||||||||
Synonyms | FLH2; HPLH2; P1; PFN1; PFP; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000398568 | ||||||||||||||||||||||
InnateDB Gene | IDBG-77451 (PRF1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized 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, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes. {ECO:0000269PubMed:20038786, ECO:0000269PubMed:20225066, ECO:0000269PubMed:20889983, ECO:0000269PubMed:21037563, ECO:0000269PubMed:9058810, ECO:0000269PubMed:9164947}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasmic granule lumen. Secreted. Cell membrane; Multi-pass membrane protein. Endosome lumen. Note=Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion and pore formation requires a major conformation change. May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes. | ||||||||||||||||||||||
Disease Associations | Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269PubMed:10583959, ECO:0000269PubMed:11179007}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000008
C2 domain IPR020864 Membrane attack complex component/perforin (MACPF) domain |
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PFAM |
PF00168
PF01823 |
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PRINTS |
PR00360
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PIRSF | |||||||||||||||||||||||
SMART |
SM00239
SM00457 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P14222 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P14222 | ||||||||||||||||||||||
TrEMBL | S5S2F2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5551 | ||||||||||||||||||||||
UniGene | Hs.2200 | ||||||||||||||||||||||
RefSeq | NP_005032 | ||||||||||||||||||||||
HUGO | HGNC:9360 | ||||||||||||||||||||||
OMIM | 170280 | ||||||||||||||||||||||
CCDS | CCDS7305 | ||||||||||||||||||||||
HPRD | 01362 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB209604 AK312754 AL355344 BC047695 BC063043 CH471083 KC863984 KC863985 L40557 M28393 M31951 X13224 | ||||||||||||||||||||||
GenPept | AAA60065 AAA60167 AAA63618 AAH47695 AAH63043 AGS13731 AGS13732 BAD92841 BAG35621 CAA31612 CAI41276 EAW54407 | ||||||||||||||||||||||