| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 5551 |
Name | PRF1 |
Synonym | FLH2|HPLH2|P1|PFN1|PFP;perforin 1 (pore forming protein);PRF1;perforin 1 (pore forming protein) |
Definition | cytolysin|lymphocyte pore forming protein|lymphocyte pore-forming protein|perforin-1 |
Position | 10q22 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PH | Described is a case of hemophagocytic lymphohistiocytosis-associated severe pulmonary hypertension paralleling Epstein-Barr virus (EBV) reactivation in a 52-year-old male in whom a novel perforin missense mutation was found (PRF1 1517C>T). |
| More detail of all Human literatures about PRF1 | |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 5551 |
Links to all GeneRIF Items | 5551 |
Links to iHOP | 5551 |
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Sequence Information |
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Nucleotide Sequence |
>5551 : length: 1668 atggcagcccgtctgctcctcctgggcatccttctcctgctgctgcccctgcccgtccct gccccgtgccacacagccgcacgctcagagtgcaagcgcagccacaagttcgtgcctggt gcatggctggccggggagggtgtggacgtgaccagcctccgccgctcgggctccttccca gtggacacacaaaggttcctgcggcccgacggcacctgcaccctctgtgaaaatgcccta caggagggcaccctccagcgcctgcctctggcgctcaccaactggcgggcccagggctct ggctgccagcgccatgtaaccagggccaaagtcagctccactgaagctgtggcccgggat gcggctcgtagcatccgcaacgactggaaggtcgggctggacgtgactcctaagcccacc agcaatgtgcatgtgtctgtggccggctcacactcacaggcagccaactttgcagcccag aagacccaccaggaccagtacagcttcagcactgacacggtggagtgccgcttctacagt ttccatgtggtacacactcccccgctgcaccctgacttcaagagggccctcggggacctg ccccaccacttcaacgcctccacccagcccgcctacctcaggcttatctccaactacggc acccacttcatccgggctgtggagctgggtggccgcatatcggccctcactgccctgcgc acctgcgagctggccctggaagggctcacggacaacgaggtggaggactgcctgactgtc gaggcccaggtcaacataggcatccacggcagcatctctgccgaagccaaggcctgtgag gagaagaagaagaagcacaagatgacggcctccttccaccaaacctaccgggagcgccac tcggaagtggttggcggccatcacacctccattaacgacctgctgttcgggatccaggcc gggcccgagcagtactcagcctgggtaaactcgctgcccggcagccctggcctggtggac tacaccctggaacccctgcacgtgctgctggacagccaggacccgcggcgggaggcactg aggagggccctgagtcagtacctgacggacagggctcgctggagggactgcagccggccg tgcccaccagggcggcagaagagcccccgagacccatgccagtgtgtgtgccatggctca gcggtcaccacccaggactgctgccctcggcagaggggcctggcccagctggaggtgacc ttcatccaagcatggggcctgtggggggactggttcactgccacggatgcctatgtgaag ctcttctttggtggccaggagctgaggacgagcaccgtgtgggacaataacaaccccatc tggtcagtgcggctggattttggggatgtgctcctggccacaggggggcccctgaggttg caggtctgggatcaggactctggcagggacgatgacctccttggcacctgtgatcaggct cccaagtctggttcccatgaggtgagatgcaacctgaatcatggccacctaaaattccgc tatcatgccaggtgcttgccccacctgggaggaggcacctgcctggactatgtcccccaa atgcttctgggggagcctccaggaaaccggagtggggccgtgtggtga |
Protein Sequence |
>5551 : length: 555 MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ MLLGEPPGNRSGAVW |