| Gene ID | 5551 |
| Symbol | PRF1 |
| Synonymous | FLH2|HPLH2|P1|PFN1|PFP |
| Full name | perforin 1 (pore forming protein) |
| Gene description | cytolysin|lymphocyte pore forming protein|lymphocyte pore-forming protein|perforin-1 |
| Cytoband | 10q22 |
| Gene type | protein-coding |
| Synonymous | MIM:170280; HGNC:HGNC:9360; Ensembl:ENSG00000180644; HPRD:01362; Vega:OTTHUMG00000018412 |
Pathways and Diseases | Detail |
|---|---|
Pathway | IL2 signaling events mediated by STAT5;PID Curated;200158 |
Pathway | Type I diabetes mellitus;KEGG PATHWAY;hsa04940 |
Pathway | Allograft rejection;KEGG PATHWAY;hsa05330 |
Pathway | Viral myocarditis;KEGG PATHWAY;hsa05416 |
Pathway | Caspase cascade in apoptosis;PID Curated;200148 |
Pathway | Downstream signaling in naive CD8+ T cells;PID Curated;200184 |
Pathway | Graft-versus-host disease;KEGG PATHWAY;hsa05332 |
Pathway | caspase cascade in apoptosis;PID BioCarta;100218 |
Pathway | granzyme a mediated apoptosis pathway;PID BioCarta;100035 |
Pathway | IL12 signaling mediated by STAT4;PID Curated;200197 |
Pathway | TCR signaling in naive CD8+ T cells;PID Curated;200062 |
Pathway | Natural killer cell mediated cytotoxicity;KEGG PATHWAY;hsa04650 |
Pathway | Autoimmune thyroid disease;KEGG PATHWAY;hsa05320 |
Disease | Lymphoma, non-Hodgkin;OMIM |
Disease | obesity (extreme);GAD |
Disease | HTLV-1 infection;GAD |
Disease | Immune system diseases;KEGG DISEASE |
Disease | CANCER;GAD |
Disease | Hemophagocytic lymphohistiocytosis, familial, 2;OMIM |
Disease | METABOLIC;GAD |
Disease | lymphoma;GAD |
Disease | Familial hemophagocyic lymphohistiocytosis;KEGG DISEASE;H00109 |
Disease | INFECTION;GAD |
Disease | Primary immunodeficiency;KEGG DISEASE |
Disease | Obesity (extreme);NHGRI |
Sequence Information | |
|---|---|
Nucleotide Sequence | >5551 : length: 2555 GAAGTGATGTGAGTGGTGGCTGGTGCAAGGAGCCACAGTGGGCTGCCTGGGGGGCTGATGCCACCATTCCAGGAGCCTCGGTGAAGAGAGGATATCCATCTGTGTAGCCGCTTCTCTATA CGGGATTCCAGAGCCCAAGTGCCCCCTGTCTCTGCAGCTCCATGGCAGCCCGTCTGCTCCTCCTGGGCATCCTTCTCCTGCTGCTGCCCCTGCCCGTCCCTGCCCCGTGCCACACAGCCG CACGCTCAGAGTGCAAGCGCAGCCACAAGTTCGTGCCTGGTGCATGGCTGGCCGGGGAGGGTGTGGACGTGACCAGCCTCCGCCGCTCGGGCTCCTTCCCAGTGGACACACAAAGGTTCC TGCGGCCCGACGGCACCTGCACCCTCTGTGAAAATGCCCTACAGGAGGGCACCCTCCAGCGCCTGCCTCTGGCGCTCACCAACTGGCGGGCCCAGGGCTCTGGCTGCCAGCGCCATGTAA CCAGGGCCAAAGTCAGCTCCACTGAAGCTGTGGCCCGGGATGCGGCTCGTAGCATCCGCAACGACTGGAAGGTCGGGCTGGACGTGACTCCTAAGCCCACCAGCAATGTGCATGTGTCTG TGGCCGGCTCACACTCACAGGCAGCCAACTTTGCAGCCCAGAAGACCCACCAGGACCAGTACAGCTTCAGCACTGACACGGTGGAGTGCCGCTTCTACAGTTTCCATGTGGTACACACTC CCCCGCTGCACCCTGACTTCAAGAGGGCCCTCGGGGACCTGCCCCACCACTTCAACGCCTCCACCCAGCCCGCCTACCTCAGGCTTATCTCCAACTACGGCACCCACTTCATCCGGGCTG TGGAGCTGGGTGGCCGCATATCGGCCCTCACTGCCCTGCGCACCTGCGAGCTGGCCCTGGAAGGGCTCACGGACAACGAGGTGGAGGACTGCCTGACTGTCGAGGCCCAGGTCAACATAG GCATCCACGGCAGCATCTCTGCCGAAGCCAAGGCCTGTGAGGAGAAGAAGAAGAAGCACAAGATGACGGCCTCCTTCCACCAAACCTACCGGGAGCGCCACTCGGAAGTGGTTGGCGGCC ATCACACCTCCATTAACGACCTGCTGTTCGGGATCCAGGCCGGGCCCGAGCAGTACTCAGCCTGGGTAAACTCGCTGCCCGGCAGCCCTGGCCTGGTGGACTACACCCTGGAACCCCTGC ACGTGCTGCTGGACAGCCAGGACCCGCGGCGGGAGGCACTGAGGAGGGCCCTGAGTCAGTACCTGACGGACAGGGCTCGCTGGAGGGACTGCAGCCGGCCGTGCCCACCAGGGCGGCAGA AGAGCCCCCGAGACCCATGCCAGTGTGTGTGCCATGGCTCAGCGGTCACCACCCAGGACTGCTGCCCTCGGCAGAGGGGCCTGGCCCAGCTGGAGGTGACCTTCATCCAAGCATGGGGCC TGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGTGAAGCTCTTCTTTGGTGGCCAGGAGCTGAGGACGAGCACCGTGTGGGACAATAACAACCCCATCTGGTCAGTGCGGCTGGATT TTGGGGATGTGCTCCTGGCCACAGGGGGGCCCCTGAGGTTGCAGGTCTGGGATCAGGACTCTGGCAGGGACGATGACCTCCTTGGCACCTGTGATCAGGCTCCCAAGTCTGGTTCCCATG AGGTGAGATGCAACCTGAATCATGGCCACCTAAAATTCCGCTATCATGCCAGGTGCTTGCCCCACCTGGGAGGAGGCACCTGCCTGGACTATGTCCCCCAAATGCTTCTGGGGGAGCCTC CAGGAAACCGGAGTGGGGCCGTGTGGTGAGAACAGTGAGCTTGGAAAGGACCAGTATGCTTGGACTGAAGGGGTTCTCACAGTGGGAGCCAGGGCTGTCTTCGTATTCCCATTAGACCAA GCTTGTCCAACCCGAGGCCCGCATGCGGCCCAGGATGGCTTTGAATGCGGCCCAACGCAAATTCGCAAACTTTCTTAAAACATTATGAGTTTCTTTTTGCTATTTTTTTTTTTTTTTTAG CTCATCGGCTATCGTTAGTGCTAGTGGATTTTACATGTGGCCCAACACAATTCTTCTTCCAACGTGGCCCAGAGAAGCCAAAAGATTGGATACGCATCAGACAGATGGAAAAGGGAGATT CAGACTGTTTTTCAGGGAGGTGGCTGGGTTTACACGCTAATCCCGATTCACCCTGTCCAAACTGCCTAAGCCCTCCGCCATTCTCAAGCCCTGCAGTCACAGCTACACAGATCACAGCTT CAGCCAGGAGCTGGGCAGAAGGCCAAGAGGCTGTTCCCACCAGGCTGCTCAGGGCTGGTCTTTTAGGACCCTTCCCTTGAGCCCTCTATGGTGTGGCAAAGCCTTCATTGCCTTAACTGG AGCCCCATCAGCTCCAGCTGCTCTGTCTTCTTTGCCCACAATGCTTTGCCCCTGAGACAAATGGAGGCCTGTCCTGACCTGTCTCACCATGTACATAGCTTGATAAAGGGCCAATAAATA TGATGTTATGGTGAAAAAAAAAAAAAAAAAAAAAA |
Protein Sequence | >5551 : length: 555 MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW |