PRF1
entrez
5551
canonical
uniprot
P14222
canonical
ensembl
ENSG00000180644
resolver
ensp
ENSP00000362305
resolver
ensp
ENSP00000398568
resolver
ensp
ENSP00000533032
resolver
ensp
ENSP00000533033
resolver
ensp
ENSP00000615981
resolver
enst
ENST00000373209
resolver
enst
ENST00000441259
resolver
enst
ENST00000862973
resolver
enst
ENST00000862974
resolver
enst
ENST00000945922
resolver
genesymbol
PRF1
resolver
genesymbol_syn
PFP
resolver
hgnc
HGNC:9360
resolver
uniprot
B2R6X4
resolver
uniprot
Q59F57
resolver
uniprot
Q86WX7
resolver
uniprot_entry
PERF_HUMAN
resolver
uniprot_sec
B2R6X4
resolver
uniprot_sec
Q59F57
resolver
uniprot_sec
Q86WX7
resolver
amino_acid_sequence
MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW
uniprot
proteins
disease_involvement
DISEASE: Hemophagocytic lymphohistiocytosis, familial, 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:0000269|PubMed:10583959, ECO:0000269|PubMed:11179007}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:20889983, PubMed:21037563, PubMed:24558045, PubMed:9058810, PubMed:9164947). 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 (PubMed:9058810). Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores (PubMed:20889983, PubMed:21037563). Promotes cytolysis and apoptosis of target cells by mediating the passage and uptake of cytotoxic granzymes (PubMed:20038786, PubMed:20225066, PubMed:24558045, PubMed:32299851). Facilitates the delivery of cationic cargo protein, while anionic or neural proteins are not delivered efficiently (PubMed:24558045). Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu (By similarity). {ECO:0000250|UniProtKB:P10820, ECO:0000269|PubMed:20038786, ECO:0000269|PubMed:20225066, ECO:0000269|PubMed:20889983, ECO:0000269|PubMed:21037563, ECO:0000269|PubMed:24558045, ECO:0000269|PubMed:32299851, ECO:0000269|PubMed:9058810, ECO:0000269|PubMed:9164947}.
uniprot
proteins
mass_dalton
61377
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:P10820}.
uniprot
proteins
protein_family
Complement C6/C7/C8/C9 family
uniprot
proteins
pubmed
10583959
uniprot
proteins
pubmed
11179007
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20038786
uniprot
proteins
pubmed
20225066
uniprot
proteins
pubmed
20889983
uniprot
proteins
pubmed
21037563
uniprot
proteins
pubmed
2395434
uniprot
proteins
pubmed
24088571
uniprot
proteins
pubmed
24558045
uniprot
proteins
pubmed
2480391
uniprot
proteins
pubmed
2592021
uniprot
proteins
pubmed
32299851
uniprot
proteins
pubmed
3419519
uniprot
proteins
pubmed
8676885
uniprot
proteins
pubmed
9058810
uniprot
proteins
pubmed
9164947
uniprot
proteins
sequence_length
555
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytolytic granule {ECO:0000269|PubMed:20038786, ECO:0000269|PubMed:24088571}. Secreted. Cell membrane {ECO:0000269|PubMed:20889983, ECO:0000269|PubMed:21037563}; Multi-pass membrane protein {ECO:0000269|PubMed:20889983, ECO:0000269|PubMed:21037563}. Endosome lumen {ECO:0000269|PubMed:20038786}. Note=Stored in cytolytic granules of cytolytic T-lymphocytes and secreted into the cleft between T-lymphocyte and target cell (PubMed:20038786). Inserts into the cell membrane of target cells and forms pores (PubMed:20889983). Membrane insertion and pore formation requires a major conformation change (PubMed:20889983). May be taken up via endocytosis involving clathrin-coated vesicles and accumulate in a first time in large early endosomes (PubMed:20038786). {ECO:0000269|PubMed:20038786, ECO:0000269|PubMed:20889983}.
uniprot
proteins
transmembrane_region
TRANSMEM 129..149; /note="Beta stranded; Name=CH1"; /evidence="ECO:0000250|UniProtKB:P10820"; TRANSMEM 257..279; /note="Beta stranded; Name=CH2"; /evidence="ECO:0000250|UniProtKB:P10820
uniprot
proteins