| Gene Information | |
|---|---|
| Gene Name | PRF1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 555 |
| Protein Names | Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 454 ( ENSG00000180644 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | P14222 |
| Gene Card | PRF1 |
| Uniprot ID | P14222 |
| Pfam | PF00168; PF01823 |
| In ASD | no |
| Allosteric Prediction | no (-0.000976769) |
| Ortholog in Animals | Alpaca_ PRF1 ( ortholog_one2one ) Dog_ PRF1 ( ortholog_one2one ) GuineaPig_ PRF1 ( ortholog_one2one ) Macaque_ PRF1 ( ortholog_one2one ) Mouse_ Prf1 ( ortholog_one2one ) Pig_ PRF1 ( ortholog_one2one ) Rat_ Prf1 ( ortholog_one2one ) Rabbit_ PRF1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | CR1L, SUSD3, F13B, SELP, SEZ6L2, CFHR2, CFHR1, CSMD1, APOH, SELE, SRPX, SVEP1, SEZ6, C8A, CD55, CSMD2, PAPPA2, SUSD6, C4BPA, C9, CR1, PAPPA, SELL, CFB, CD46, C4BPB, CR2, C7, CSMD3, CFHR3, CFH, SEZ6L, CFHR4, CFHR5, SRPX2, C8B, SUSD4, C6, C2 |
| Tissue | whole.blood |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs35418374 rs776299562 rs35947132 rs139336186 rs12263572 rs104894183 rs28933973 rs28933375 rs104894182 rs28933374 rs104894181 |
| Subcellular location [CC] | 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}. |
| Mouse PG classification | HPG |
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