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| # | Reference Title | Reference Citation |
| 1. | Evidence supporting a circadian control of natural killer cell function. | Arjona A and Sarkar DK, Brain Behav Immun. 2006 Sep;20(5):469-76. Epub 2005 Nov 23. |
| 2. | Circadian rhythms of granzyme B, perforin, IFN-gamma, and NK cell cytolytic activity in the spleen: effects of chronic ethanol. | Arjona A, etal., J Immunol. 2004 Mar 1;172(5):2811-7. |
| 3. | Involvement of IFN-gamma and perforin, but not Fas/FasL interactions in regulatory T cell-mediated suppression of experimental autoimmune encephalomyelitis. | Beeston T, etal., J Neuroimmunol. 2010 Dec 15;229(1-2):91-7. Epub 2010 Aug 12. |
| 4. | Immunological abnormalities as potential biomarkers in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis. | Brenu EW, etal., J Transl Med. 2011 May 28;9:81. |
| 5. | Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis. | Camina-Tato M, etal., J Immunol. 2010 Nov 1;185(9):5392-404. Epub 2010 Oct 4. |
| 6. | Chronic HCV infection affects the NK cell phenotype in the blood more than in the liver. | Cosgrove C, etal., PLoS One. 2014 Aug 22;9(8):e105950. doi: 10.1371/journal.pone.0105950. eCollection 2014. |
| 7. | Two systemic lupus erythematosus (SLE) global disease activity indexes--the SLE Disease Activity Index and the Systemic Lupus Activity Measure--demonstrate different correlations with activation of peripheral blood CD4+ T cells. | Daca A, etal., Hum Immunol. 2011 Dec;72(12):1160-7. Epub 2011 Aug 26. |
| 8. | Perforin and gamma interferon expression are required for CD4+ and CD8+ T-cell-dependent protective immunity against a human parasite, Trypanosoma cruzi, elicited by heterologous plasmid DNA prime-recombinant adenovirus 5 boost vaccination. | de Alencar BC, etal., Infect Immun. 2009 Oct;77(10):4383-95. Epub 2009 Aug 3. |
| 9. | Demyelinated axons and motor function are protected by genetic deletion of perforin in a mouse model of multiple sclerosis. | Deb C, etal., J Neuropathol Exp Neurol. 2009 Sep;68(9):1037-48. |
| 10. | Allergen-specific CTL require perforin expression to suppress allergic airway inflammation. | Enomoto N, etal., J Immunol. 2012 Feb 15;188(4):1734-41. Epub 2012 Jan 16. |
| 11. | Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. | Feldmann J, etal., Br J Haematol. 2002 Jun;117(4):965-72. |
| 12. | Anti-perforin antibody treatment ameliorates experimental crescentic glomerulonephritis in WKY rats. | Fujinaka H, etal., Kidney Int. 2007 Oct;72(7):823-30. Epub 2007 Jul 11. |
| 13. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 14. | Circulating CD8+CD56-perforin+ T cells are increased in multiple sclerosis patients. | Giovanni F, etal., J Neuroimmunol. 2011 Dec 15;240-241:137-41. Epub 2011 Oct 15. |
| 15. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 16. | Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. | Goransdotter Ericson K, etal., Am J Hum Genet. 2001 Mar;68(3):590-7. Epub 2001 Feb 6. |
| 17. | Granzyme B expression by CD8+ T cells is required for the development of experimental cerebral malaria. | Haque A, etal., J Immunol. 2011 Jun 1;186(11):6148-56. Epub 2011 Apr 27. |
| 18. | Perforin expression directly ex vivo by HIV-specific CD8 T-cells is a correlate of HIV elite control. | Hersperger AR, etal., PLoS Pathog. 2010 May 27;6(5):e1000917. |
| 19. | An anti-CD5 monoclonal antibody ameliorates proteinuria and glomerular lesions in rat mesangioproliferative glomerulonephritis. | Ikezumi Y, etal., Kidney Int. 2000 Jul;58(1):100-14. |
| 20. | Molecular cloning of rat cytolysin. | Ishikawa H, etal., J Immunol 1989 Nov 1;143(9):3069-73. |
| 21. | High clonality of virus-specific T lymphocytes defined by TCR usage in the brains of mice infected with West Nile virus. | Kitaura K, etal., J Immunol. 2011 Oct 15;187(8):3919-30. Epub 2011 Sep 9. |
| 22. | Critical role of perforin-dependent CD8+ T cell immunity for rapid protective vaccination in a murine model for human smallpox. | Kremer M, etal., PLoS Pathog. 2012 Mar;8(3):e1002557. Epub 2012 Mar 1. |
| 23. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 24. | Impaired immune function in children with Fanconi anaemia. | Myers KC, etal., Br J Haematol. 2011 Jul;154(2):234-40. doi: 10.1111/j.1365-2141.2011.08721.x. Epub 2011 May 4. |
| 25. | Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway. | Nimmo ER, etal., Inflamm Bowel Dis. 2012 May;18(5):889-99. doi: 10.1002/ibd.21912. Epub 2011 Oct 21. |
| 26. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 27. | Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. | Pachlopnik Schmid J, etal., EMBO Mol Med. 2009 May;1(2):112-24. |
| 28. | A polymorphism in PRF1 gene is associated with HIV-1 vertical transmission in Brazilian children. | Padovan L, etal., AIDS. 2011 Feb 20;25(4):535-7. |
| 29. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 30. | GOA pipeline | RGD automated data pipeline |
| 31. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 32. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 33. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 34. | Granzyme B binds to target cells mostly by charge and must be added at the same time as perforin to trigger apoptosis. | Shi L, etal., J Immunol. 2005 May 1;174(9):5456-61. |
| 35. | Expression of cytolytic protein-perforin in peripheral blood lymphocytes in severe traumatic brain injured patients. | Sotosek Tokmadzic V, etal., Injury. 2012 May;43(5):624-31. Epub 2010 May 26. |
| 36. | Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. | Vastert SJ, etal., Rheumatology (Oxford). 2010 Mar;49(3):441-9. Epub 2009 Dec 17. |
| 37. | Perforin deficiency attenuates inflammation and tumor growth in colitis-associated cancer. | Waldner MJ, etal., Inflamm Bowel Dis. 2010 Apr;16(4):559-67. |
| 38. | The role of Th17 cells and regulatory T cells in Coxsackievirus B3-induced myocarditis. | Xie Y, etal., Virology. 2011 Dec 5;421(1):78-84. Epub 2011 Oct 11. |
| 39. | Dietary Mustard Seeds (Sinapis alba Linn) Suppress 1,2-Dimethylhydrazine-Induced Immuno-Imbalance and Colonic Carcinogenesis in Rats. | Zhu M, etal., Nutr Cancer. 2012 Apr;64(3):464-72. Epub 2012 Mar 16. |
| 40. | [Expression of perforin and granzyme B in asthmatic rats and intervention of recombinant human growth hormone]. | Zou LP, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2011 Mar;13(3):223-6. |
| PMID:8164737 | PMID:9756476 | PMID:11856751 | PMID:12477932 | PMID:15454490 | PMID:15576364 | PMID:15755897 | PMID:19915045 | PMID:19946888 | PMID:20450731 | PMID:20889983 | PMID:21037563 |
| PMID:21438968 | PMID:21685908 | PMID:24070258 | PMID:24506670 |
| Prf1 (Rattus norvegicus - Norway rat) |
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| PRF1 (Homo sapiens - human) |
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| Prf1 (Mus musculus - house mouse) |
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| Prf1 (Chinchilla lanigera - long-tailed chinchilla) |
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| PRF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PRF1 (Canis lupus familiaris - dog) |
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| Prf1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PRF1 (Sus scrofa - pig) |
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| PRF1 (Chlorocebus sabaeus - green monkey) |
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| Prf1 (Heterocephalus glaber - naked mole-rat) |
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| Prf1 (Rattus rattus - black rat) |
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.
Variants in Prf1
33 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D20Rat27 |
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| D20Got111 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 51 | 85 | 89 | 88 | 57 | 92 | 57 | 6 | 330 | 173 | 9 | 59 | 76 | 87 | 31 | 2 | 2 |
| RefSeq Transcripts | NM_017330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | AC129354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC089808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ222726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M33605 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000000681 ⟹ ENSRNOP00000000681 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000100131 ⟹ ENSRNOP00000078379 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000117051 ⟹ ENSRNOP00000076990 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_017330 ⟹ NP_059026 | ||||||||||||||||||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_059026 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAA41071 | (Get FASTA) | NCBI Sequence Viewer |
| AAH89808 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL93028 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL93029 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000078379 | ||
| GenBank Protein | P35763 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_059026 ⟸ NM_017330 |
| - Peptide Label: | precursor |
| - UniProtKB: | P35763 (UniProtKB/Swiss-Prot), Q5FVS5 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000000681 ⟸ ENSRNOT00000000681 |
| Ensembl Acc Id: | ENSRNOP00000078379 ⟸ ENSRNOT00000100131 |
| Ensembl Acc Id: | ENSRNOP00000076990 ⟸ ENSRNOT00000117051 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P35763-F1-model_v2 | AlphaFold | P35763 | 1-554 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701601 | ||||||||
| Promoter ID: | EPDNEW_R12125 | ||||||||
| Type: | single initiation site | ||||||||
| Name: | Prf1_1 | ||||||||
| Description: | perforin 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:708463 | AgrOrtholog |
| BioCyc Gene | G2FUF-3725 | BioCyc |
| Ensembl Genes | ENSRNOG00000000562 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000100131 | ENTREZGENE |
| Gene3D-CATH | 2.60.40.150 | UniProtKB/Swiss-Prot |
| IMAGE_CLONE | IMAGE:7378633 | IMAGE-MGC_LOAD |
| InterPro | C2_dom | UniProtKB/Swiss-Prot |
| C2_domain_sf | UniProtKB/Swiss-Prot | |
| MACPF | UniProtKB/Swiss-Prot | |
| MACPF_CS | UniProtKB/Swiss-Prot | |
| Perforin-1_C2 | UniProtKB/Swiss-Prot | |
| Perforin-1_pore-forming | UniProtKB/Swiss-Prot | |
| MGC_CLONE | MGC:108712 | IMAGE-MGC_LOAD |
| NCBI Gene | 50669 | ENTREZGENE |
| PANTHER | PERFORIN-1 | UniProtKB/Swiss-Prot |
| PERFORIN-1 | UniProtKB/Swiss-Prot | |
| Pfam | MACPF | UniProtKB/Swiss-Prot |
| PF00168 | UniProtKB/Swiss-Prot | |
| PharmGKB | PRF1 | RGD |
| PhenoGen | Prf1 | PhenoGen |
| PROSITE | MACPF_1 | UniProtKB/Swiss-Prot |
| MACPF_2 | UniProtKB/Swiss-Prot | |
| PS50004 | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000000562 | RatGTEx |
| SMART | MACPF | UniProtKB/Swiss-Prot |
| SM00239 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF49562 | UniProtKB/Swiss-Prot |
| UniProt | A0A8I5ZKR3_RAT | UniProtKB/TrEMBL |
| A6K3Z3_RAT | UniProtKB/TrEMBL | |
| A6K3Z4_RAT | UniProtKB/TrEMBL | |
| F7EPF5_RAT | UniProtKB/TrEMBL | |
| P35763 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Q5FVS5 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-11 | Prf1 | perforin 1 | Prf1 | perforin 1 (pore forming protein) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2004-04-22 | Prf1 | perforin 1 (pore forming protein) | Cyta | cytolysin | Symbol and Name updated to reflect Human and Mouse nomenclature | 625702 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_expression | expressed in lymphocytes | 1299461 |