Prf1 (perforin 1 (pore forming protein)) - Rat Genome Database

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Gene: Prf1 (perforin 1 (pore forming protein)) Mus musculus
Analyze
Symbol: Prf1
Name: perforin 1 (pore forming protein)
RGD ID: 1553597
MGI Page MGI
Description: Enables calcium ion binding activity and wide pore channel activity. Involved in several processes, including defense response to tumor cell; granzyme-mediated programmed cell death signaling pathway; and protein transport. Located in cytolytic granule and cytoplasmic vesicle. Is active in immunological synapse. Is expressed in ductus deferens; epididymis; skin; and spleen. Used to study familial hemophagocytic lymphohistiocytosis 2; multiple sclerosis; and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including Crohn's disease; familial hemophagocytic lymphohistiocytosis 2; human immunodeficiency virus infectious disease; multiple sclerosis; and non-Langerhans-cell histiocytosis. Orthologous to human PRF1 (perforin 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cytolysin; lymphocyte pore-forming protein; P; P1; pe; perforin-1; Pfn; Pfp; pore forming protein; Prf; Prf-1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,133,530 - 61,140,463 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1061,133,612 - 61,140,459 (+)EnsemblGRCm39 Ensembl
GRCm381061,297,751 - 61,304,684 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,297,833 - 61,304,680 (+)EnsemblGRCm38mm10GRCm38
MGSCv371060,760,584 - 60,767,011 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361060,693,191 - 60,699,667 (+)NCBIMGSCv36mm8
Celera1062,399,002 - 62,405,430 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.18NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-dinitrotoluene  (ISO)
2-tert-butylhydroquinone  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
3,7-dihydropurine-6-thione  (ISO)
5-azacytidine  (ISO)
acetamide  (ISO)
adenosine  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
bisphenol A  (ISO)
bortezomib  (ISO)
bromodichloromethane  (EXP)
carbon nanotube  (EXP)
CGP 52608  (ISO)
chloroprene  (EXP)
coformycin  (EXP)
Dibutyl phosphate  (ISO)
dichloroacetic acid  (EXP)
dichlorvos  (ISO)
ethanol  (EXP)
ferric oxide  (EXP)
formaldehyde  (EXP)
FR900359  (ISO)
fulvestrant  (ISO)
gentamycin  (ISO)
halothane  (EXP)
ionomycin  (EXP)
L-ascorbic acid  (EXP)
mercaptopurine  (ISO)
methimazole  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nevirapine  (ISO)
nickel atom  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-menthan-3-ol  (ISO)
Pentoxifylline  (ISO)
permethrin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
poly(I:C)  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
purine-6-thiol  (ISO)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (ISO)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
urethane  (EXP)
valproic acid  (ISO)
ziram  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal behavior  (IAGP)
abnormal body temperature homeostasis  (IAGP)
abnormal brain meninges morphology  (IAGP)
abnormal circulating cytokine level  (IAGP)
abnormal circulating glucose level  (IAGP)
abnormal cytokine secretion  (IAGP)
abnormal cytotoxic T cell physiology  (IAGP)
abnormal female reproductive system physiology  (IAGP)
abnormal glucose homeostasis  (IAGP)
abnormal inflammatory response  (IAGP)
abnormal leukocyte physiology  (IAGP)
abnormal level of surface class II molecules  (IAGP)
abnormal lymph node cortex morphology  (IAGP)
abnormal lymph node morphology  (IAGP)
abnormal lymphocyte physiology  (IAGP)
abnormal macrophage activation involved in immune response  (IAGP)
abnormal NK cell physiology  (IAGP)
abnormal pancreatic islet morphology  (IAGP)
abnormal response to transplant  (IAGP)
abnormal spleen white pulp morphology  (IAGP)
abnormal T cell activation  (IAGP)
abnormal thymus cortex morphology  (IAGP)
abnormal tumor morphology  (IAGP)
absent mature B cells  (IAGP)
absent T cells  (IAGP)
autoimmune response  (IAGP)
brain inflammation  (IAGP)
CNS inflammation  (IAGP)
decreased body temperature  (IAGP)
decreased bone marrow cell number  (IAGP)
decreased CD4-positive, alpha-beta T cell number  (IAGP)
decreased CD8-positive, alpha-beta T cell number  (IAGP)
decreased circulating alanine transaminase level  (IAGP)
decreased circulating fibrinogen level  (IAGP)
decreased cytotoxic T cell cytolysis  (IAGP)
decreased erythrocyte cell number  (IAGP)
decreased immunoglobulin level  (IAGP)
decreased interferon-gamma secretion  (IAGP)
decreased leukocyte cell number  (IAGP)
decreased locomotor activity  (IAGP)
decreased mature B cell number  (IAGP)
decreased mean corpuscular hemoglobin concentration  (IEA)
decreased neutrophil cell number  (IAGP)
decreased NK cell degranulation  (IAGP)
decreased pancreatic beta cell number  (IAGP)
decreased susceptibility to autoimmune diabetes  (IAGP)
decreased susceptibility to bacterial infection  (IAGP)
decreased T cell apoptosis  (IAGP)
decreased tumor latency  (IAGP)
demyelination  (IAGP)
hunched posture  (IAGP)
hyperglycemia  (IAGP)
impaired natural killer cell mediated cytotoxicity  (IAGP)
increased activated T cell number  (IAGP)
increased B cell derived lymphoma incidence  (IAGP)
increased circulating aspartate transaminase level  (IAGP)
increased circulating glucose level  (IAGP)
increased circulating interferon-alpha level  (IAGP)
increased circulating interferon-gamma level  (IAGP)
increased circulating interleukin-1 beta level  (IAGP)
increased circulating interleukin-10 level  (IAGP)
increased circulating interleukin-18 level  (IAGP)
increased circulating interleukin-6 level  (IAGP)
increased circulating lactate dehydrogenase level  (IAGP)
increased circulating triglyceride level  (IAGP)
increased circulating tumor necrosis factor level  (IAGP)
increased erythrocyte cell number  (IAGP)
increased granulocyte number  (IAGP)
increased immature B cell number  (IAGP)
increased incidence of induced tumors  (IAGP)
increased interferon-gamma secretion  (IAGP)
increased interleukin-10 secretion  (IAGP)
increased lung adenocarcinoma incidence  (IAGP)
increased lymphoma incidence  (IAGP)
increased macrophage cell number  (IAGP)
increased monocyte cell number  (IAGP)
increased NK cell number  (IAGP)
increased physiological sensitivity to xenobiotic  (IAGP)
increased sarcoma incidence  (IAGP)
increased spleen red pulp amount  (IAGP)
increased susceptibility to bacterial infection  (IAGP)
increased susceptibility to Flaviviridae infection  (IAGP)
increased susceptibility to Herpesvirales infection  (IEA)
increased susceptibility to Herpesvirales infection induced morbidity/mortality  (IEA)
increased susceptibility to induced morbidity/mortality  (IAGP)
increased susceptibility to infection  (IAGP)
increased susceptibility to parasitic infection  (IAGP)
increased susceptibility to Picornaviridae infection  (IAGP)
increased susceptibility to Riboviria infection  (IAGP)
increased susceptibility to Riboviria infection induced morbidity/mortality  (IAGP)
increased susceptibility to viral infection induced morbidity/mortality  (IAGP)
increased T cell derived lymphoma incidence  (IAGP)
increased tumor growth/size  (IAGP)
increased tumor latency  (IAGP)
increased tumor necrosis factor secretion  (IAGP)
insulitis  (IAGP)
lethargy  (IAGP)
liver inflammation  (IAGP)
lymph node inflammation  (IAGP)
lymph node necrosis  (IAGP)
no abnormal phenotype detected  (IAGP)
pancytopenia  (IAGP)
periinsulitis  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
premature death  (IAGP)
ruffled hair  (IAGP)
spleen hypoplasia  (IAGP)
thrombocytopenia  (IAGP)
thymus hypoplasia  (IAGP)
weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Immunological abnormalities as potential biomarkers in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis. Brenu EW, etal., J Transl Med. 2011 May 28;9:81.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. MGDs mouse GO annotations MGD data from the GO Consortium
19. MGD IEA MGD IEA
20. 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.
21. 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.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. 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.
24. 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.
25. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
26. Mouse MP Annotation Import Pipeline RGD automated import pipeline
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. 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.
30. 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.
31. Perforin deficiency attenuates inflammation and tumor growth in colitis-associated cancer. Waldner MJ, etal., Inflamm Bowel Dis. 2010 Apr;16(4):559-67.
32. 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.
33. 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.
34. [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.
Additional References at PubMed
PMID:1401900   PMID:1505959   PMID:1577064   PMID:1981053   PMID:2095003   PMID:2303785   PMID:2783486   PMID:2783549   PMID:3190678   PMID:3261391   PMID:7494105   PMID:7518614  
PMID:7520535   PMID:7526382   PMID:7533086   PMID:7533644   PMID:7543509   PMID:7558020   PMID:7608538   PMID:7734048   PMID:7835907   PMID:7959748   PMID:7970703   PMID:7972104  
PMID:8164737   PMID:8188645   PMID:8344349   PMID:8370390   PMID:8570653   PMID:8676085   PMID:8835541   PMID:8920866   PMID:8977187   PMID:8985346   PMID:8990386   PMID:9112346  
PMID:9259590   PMID:9314549   PMID:9362539   PMID:9414161   PMID:9464800   PMID:9480986   PMID:9506704   PMID:9510164   PMID:9521083   PMID:9551899   PMID:9551927   PMID:9605173  
PMID:9681998   PMID:9708802   PMID:9736651   PMID:9743374   PMID:9820556   PMID:9846702   PMID:9862744   PMID:9882377   PMID:9916723   PMID:9916752   PMID:10049941   PMID:10072530  
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PMID:10878371   PMID:10946317   PMID:11006223   PMID:11046015   PMID:11046034   PMID:11082062   PMID:11090183   PMID:11133760   PMID:11160245   PMID:11333140   PMID:11342601   PMID:11380680  
PMID:11433343   PMID:11438167   PMID:11441070   PMID:11497079   PMID:11507223   PMID:11559824   PMID:11714837   PMID:11739503   PMID:11748177   PMID:11752172   PMID:11801676   PMID:11856751  
PMID:11870623   PMID:11884544   PMID:11907109   PMID:11911476   PMID:11932415   PMID:12039912   PMID:12084043   PMID:12093877   PMID:12147624   PMID:12171798   PMID:12239309   PMID:12352968  
PMID:12387738   PMID:12391238   PMID:12466851   PMID:12477932   PMID:12517799   PMID:12574320   PMID:12574396   PMID:12594834   PMID:12601154   PMID:12610115   PMID:12616497   PMID:12626579  
PMID:12648455   PMID:12668139   PMID:12705850   PMID:12817750   PMID:12847210   PMID:12847225   PMID:12874215   PMID:12925844   PMID:12960267   PMID:14530349   PMID:14557749   PMID:14583233  
PMID:14688317   PMID:14734739   PMID:14742542   PMID:14747539   PMID:14764669   PMID:15007091   PMID:15061770   PMID:15069016   PMID:15070687   PMID:15084164   PMID:15098030   PMID:15114672  
PMID:15215168   PMID:15265903   PMID:15271900   PMID:15308121   PMID:15322178   PMID:15322205   PMID:15452725   PMID:15454490   PMID:15466930   PMID:15468058   PMID:15492848   PMID:15499555  
PMID:15534000   PMID:15567431   PMID:15596864   PMID:15599322   PMID:15699103   PMID:15755897   PMID:15761851   PMID:15778381   PMID:15879127   PMID:15899830   PMID:15944263   PMID:15956596  
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PMID:16237054   PMID:16339537   PMID:16339567   PMID:16365400   PMID:16373503   PMID:16385625   PMID:16414999   PMID:16418326   PMID:16436955   PMID:16497935   PMID:16539627   PMID:16541469  
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PMID:17562770   PMID:17591955   PMID:17599099   PMID:17615584   PMID:17675510   PMID:17827390   PMID:17919943   PMID:17954569   PMID:17982459   PMID:18000953   PMID:18064039   PMID:18096765  
PMID:18227174   PMID:18259609   PMID:18413767   PMID:18424703   PMID:18469826   PMID:18505782   PMID:18563383   PMID:18617557   PMID:18632965   PMID:18644885   PMID:18768900   PMID:18991284  
PMID:19005414   PMID:19009526   PMID:19017970   PMID:19047627   PMID:19050276   PMID:19050279   PMID:19084435   PMID:19109156   PMID:19119023   PMID:19120481   PMID:19139191   PMID:19147124  
PMID:19196996   PMID:19216020   PMID:19262044   PMID:19264954   PMID:19290021   PMID:19325035   PMID:19338979   PMID:19359516   PMID:19406986   PMID:19451396   PMID:19525969   PMID:19564888  
PMID:19602595   PMID:19720840   PMID:19780193   PMID:19843883   PMID:19878357   PMID:19901080   PMID:19903852   PMID:19915045   PMID:19923462   PMID:20007464   PMID:20008292   PMID:20008293  
PMID:20035050   PMID:20042681   PMID:20048124   PMID:20080755   PMID:20083666   PMID:20089706   PMID:20097864   PMID:20101613   PMID:20156971   PMID:20200356   PMID:20215523   PMID:20220087  
PMID:20233969   PMID:20309009   PMID:20357252   PMID:20381385   PMID:20404142   PMID:20424188   PMID:20439728   PMID:20440077   PMID:20483732   PMID:20488796   PMID:20497254   PMID:20525896  
PMID:20570944   PMID:20583106   PMID:20585036   PMID:20660713   PMID:20814579   PMID:20844537   PMID:20935648   PMID:20951068   PMID:21037563   PMID:21045195   PMID:21135172   PMID:21245496  
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PMID:21624938   PMID:21658975   PMID:21709155   PMID:21712396   PMID:21768400   PMID:21832159   PMID:21839735   PMID:21853094   PMID:21873193   PMID:21873635   PMID:21878672   PMID:21931672  
PMID:21964024   PMID:21966366   PMID:22031758   PMID:22042696   PMID:22075702   PMID:22084442   PMID:22101430   PMID:22161269   PMID:22167808   PMID:22212899   PMID:22216008   PMID:22237627  
PMID:22312128   PMID:22366582   PMID:22374983   PMID:22491469   PMID:22493083   PMID:22532799   PMID:22617213   PMID:22674984   PMID:22678903   PMID:22751116   PMID:22773667   PMID:22776817  
PMID:22815291   PMID:22844498   PMID:22851709   PMID:22869906   PMID:22905147   PMID:23002042   PMID:23160464   PMID:23164664   PMID:23190531   PMID:23209317   PMID:23230000   PMID:23275602  
PMID:23341634   PMID:23355740   PMID:23395974   PMID:23402528   PMID:23403622   PMID:23440410   PMID:23568450   PMID:23585675   PMID:23660960   PMID:23676498   PMID:23691028   PMID:23744295  
PMID:23746652   PMID:23776508   PMID:23840635   PMID:23874205   PMID:23883515   PMID:23897612   PMID:23964122   PMID:23974195   PMID:23999498   PMID:24043891   PMID:24061165   PMID:24070258  
PMID:24096050   PMID:24194600   PMID:24205352   PMID:24211274   PMID:24259502   PMID:24293627   PMID:24366614   PMID:24391492   PMID:24415778   PMID:24477907   PMID:24487434   PMID:24533050  
PMID:24550298   PMID:24558045   PMID:24586745   PMID:24625974   PMID:24658838   PMID:24687086   PMID:24698324   PMID:24777831   PMID:24790144   PMID:24854422   PMID:24855001   PMID:24906149  
PMID:25048196   PMID:25337791   PMID:25351955   PMID:25352130   PMID:25398236   PMID:25428875   PMID:25436971   PMID:25459639   PMID:25502180   PMID:25525117   PMID:25555453   PMID:25750028  
PMID:25809566   PMID:25902529   PMID:25990242   PMID:26066976   PMID:26104914   PMID:26306037   PMID:26321222   PMID:26384546   PMID:26390156   PMID:26426795   PMID:26446877   PMID:26447219  
PMID:26454821   PMID:26467188   PMID:26506472   PMID:26518437   PMID:26572063   PMID:26588782   PMID:26610869   PMID:26720279   PMID:26752517   PMID:26755706   PMID:26756195   PMID:26806130  
PMID:26825707   PMID:26864340   PMID:26872694   PMID:27268148   PMID:27341123   PMID:27377586   PMID:27403737   PMID:27608599   PMID:27663893   PMID:27677156   PMID:27737881   PMID:27799622  
PMID:27827367   PMID:27856754   PMID:28034913   PMID:28096300   PMID:28108629   PMID:28137589   PMID:28228283   PMID:28233863   PMID:28251796   PMID:28264905   PMID:28302645   PMID:28399128  
PMID:28533414   PMID:28537251   PMID:28860338   PMID:29053971   PMID:29293660   PMID:29416110   PMID:29420734   PMID:29436413   PMID:29695416   PMID:29743559   PMID:29891681   PMID:29940333  
PMID:29975766   PMID:30135490   PMID:30301918   PMID:30442932   PMID:30575733   PMID:30578871   PMID:30745322   PMID:30879886   PMID:30894275   PMID:31012985   PMID:31015190   PMID:31241463  
PMID:31243088   PMID:31301754   PMID:31400073   PMID:31509742   PMID:31572388   PMID:31742873   PMID:31924474   PMID:32052406   PMID:32152316   PMID:32153566   PMID:32180773   PMID:32188940  
PMID:32286313   PMID:32325033   PMID:32419134   PMID:32528465   PMID:32530039   PMID:32581358   PMID:32726632   PMID:32734619   PMID:32925169   PMID:32966792   PMID:32973802   PMID:33188072  
PMID:33361812   PMID:34249474   PMID:34262436   PMID:34547143   PMID:34721405   PMID:35148176   PMID:35296858   PMID:35417675   PMID:35671274   PMID:35705808   PMID:36124553   PMID:36278424  
PMID:36646856   PMID:36932441   PMID:37071533   PMID:37228616   PMID:37516815   PMID:37534578   PMID:37689689   PMID:37865673   PMID:37868957   PMID:38164135   PMID:38310514   PMID:38355793  
PMID:38446698   PMID:38722309  


Genomics

Comparative Map Data
Prf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,133,530 - 61,140,463 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1061,133,612 - 61,140,459 (+)EnsemblGRCm39 Ensembl
GRCm381061,297,751 - 61,304,684 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,297,833 - 61,304,680 (+)EnsemblGRCm38mm10GRCm38
MGSCv371060,760,584 - 60,767,011 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361060,693,191 - 60,699,667 (+)NCBIMGSCv36mm8
Celera1062,399,002 - 62,405,430 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.18NCBI
PRF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381070,597,348 - 70,602,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1070,597,348 - 70,602,759 (-)EnsemblGRCh38hg38GRCh38
GRCh371072,357,104 - 72,362,497 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,027,110 - 72,032,537 (-)NCBINCBI36Build 36hg18NCBI36
Build 341072,027,110 - 72,032,520NCBI
Celera1065,638,863 - 65,644,316 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1066,350,612 - 66,356,064 (-)NCBIHuRef
CHM1_11072,639,251 - 72,644,703 (-)NCBICHM1_1
T2T-CHM13v2.01071,467,050 - 71,472,469 (-)NCBIT2T-CHM13v2.0
Prf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82029,789,040 - 29,794,550 (+)NCBIGRCr8
mRatBN7.22029,246,202 - 29,251,712 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2029,246,202 - 29,251,701 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2030,262,194 - 30,267,704 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02029,648,492 - 29,654,002 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02030,390,949 - 30,396,459 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02030,915,294 - 30,920,804 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2030,915,213 - 30,921,382 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02032,706,313 - 32,711,823 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42028,658,367 - 28,663,877 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12028,672,166 - 28,677,670 (+)NCBI
Celera2030,679,378 - 30,684,888 (+)NCBICelera
Cytogenetic Map20q11NCBI
Prf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543720,700,718 - 20,706,929 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543720,700,912 - 20,705,076 (+)NCBIChiLan1.0ChiLan1.0
PRF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2882,751,239 - 82,757,941 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11082,756,560 - 82,763,263 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01067,071,141 - 67,078,057 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11069,597,574 - 69,603,070 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1069,597,574 - 69,603,070 (-)Ensemblpanpan1.1panPan2
PRF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1421,497,865 - 21,502,429 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl421,498,249 - 21,500,864 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha421,630,717 - 21,633,264 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0421,771,953 - 21,776,587 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl421,772,387 - 21,775,002 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1421,669,548 - 21,672,095 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0421,875,818 - 21,878,365 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0422,227,730 - 22,230,277 (-)NCBIUU_Cfam_GSD_1.0
Prf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721359,564,718 - 59,568,196 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365218,057,874 - 8,060,695 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365218,057,874 - 8,060,695 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1473,512,769 - 73,520,202 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11473,515,306 - 73,520,256 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21479,363,495 - 79,368,376 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1960,692,544 - 60,698,000 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl960,692,600 - 60,698,465 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604821,417,046 - 21,423,720 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247544,679,521 - 4,681,627 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247544,679,451 - 4,681,627 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Prf1
191 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:178
Count of miRNA genes:158
Interacting mature miRNAs:172
Transcripts:ENSMUST00000035419
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300882Ath17_matherosclerosis 17 (mouse)Not determined105109149085091639Mouse
39128215Lwq17_mliver weight QTL 17 (mouse)101270405184079784Mouse
4141943W6q6_mweight 6 weeks QTL 6 (mouse)Not determined1270405184079784Mouse
1301787Bsc1_mbrain size control 1 (mouse)Not determined105851696992517096Mouse
27226772Tibl13_mtibia length 13, 10 week (mouse)1018875748129635869Mouse
1357656Hrtq3_mheart weight QTL 3 (mouse)Not determined101270405184079784Mouse
14746991Manh68_mmandible shape 68 (mouse)105228049786280497Mouse
26884426Cvht1_mcranial vault height 1, 5 week (mouse)1024675898121035905Mouse
10045641Jckm3_mjuvenile cystic kidney modifier 3 (mouse)Not determined104984818783848412Mouse
4142380W3q11_mweight 3 weeks QTL 11 (mouse)Not determined1270405184079784Mouse
27226764Tibl19_mtibia length 19, 16 week (mouse)1039175996129635869Mouse
1357825Kidpq2_mkidney weight percentage QTL 2 (mouse)Not determined101270405184079784Mouse
1302150Bbaa18_mB.burgdorferi-associated arthritis 18 (mouse)Not determined104933801283338157Mouse
4142313Angvq1_mangiogenesis by VEGF QTL 1 (mouse)Not determined4672040382491121Mouse
1301380Cia8_mcollagen induced arthritis QTL 8 (mouse)Not determined105149340082491121Mouse
1301003Lmblgq4_mlimb length QTL 4 (mouse)Not determined102159119268091639Mouse
4141159Phl2_mprogressive hearing loss 2 (mouse)Not determined104797449970112651Mouse
1301386Sysbp1_msystolic blood pressure 1 (mouse)Not determined101010826587401095Mouse
10045632Heal16_mwound healing/regeneration 16 (mouse)Not determined103097449964974630Mouse
1301966Lifespan2_mlife span 2 (mouse)Not determined104984822283848397Mouse
26884421Cvht5_mcranial vault height 5, 10 week (mouse)104557609669135830Mouse
1302067Scc9_mcolon tumor susceptibility 9 (mouse)Not determined1018259333125575232Mouse
26884411Bzwq8_mbi-zygomatic width QTL 8, 10 week (mouse)1044876096115935905Mouse
1357558Bmch4_mbone mechanical trait 4 (mouse)Not determined103157713665577284Mouse
1300597Skull14_mskull morphology 14 (mouse)Not determined104984818783848412Mouse
4142169Pbwg16_mpostnatal body weight growth 16 (mouse)Not determined104984818783848412Mouse
26884403Cvht8_mcranial vault height 8, 16 week (mouse)102287589991035862Mouse
26884400Huml5_mhumerus length 5, 16 week (mouse)104627609669235830Mouse
27095920Pglq9_mpelvic girdle length QTL 9, 10 week (mouse)103377599670835830Mouse
26884407Bzwq14_mbi-zygomatic width QTL 14, 16 wee (mouse)1045476096120635905Mouse
1301502Eae17_msusceptibility to experimental allergic encephalomyelitis 17 (mouse)Not determined105109149085091639Mouse
1300898Cfid_mcystic fibrosis intestinal distress (mouse)Not determined102972040363720483Mouse
4141070Ltgq1_mliver triglyceride QTL 1 (mouse)Not determined4123732675237326Mouse
1558757Eae34_mexperimental allergic encephalomyelitis susceptibility 34 (mouse)Not determined1021408154114217230Mouse
1357740Obsty3_mobesity 3 (mouse)Not determined108235478116190980Mouse
26884450Sklq15_mskull length QTL 15, 16 week (mouse)1059335822122335905Mouse
13208560Wght9_mweight 9 (mouse)1059835822120835905Mouse
27095911Pglq15_mpelvic girdle length QTL 15, 16 week (mouse)1039175996129635869Mouse
4141956Egq7_mearly growth QTL 7 (mouse)Not determined1270405184079784Mouse
1357864Scfpq1_msubcutaneous fat pad percentage QTL 1 (mouse)Not determined101270405184079784Mouse
1357737Hpcr2_mhepatocarcinogen resistance 2 (mouse)Not determined104984822283848397Mouse
4142272W10q5_mweight 10 weeks QTL 5 (mouse)Not determined1270405184079784Mouse

Markers in Region
PMC108498P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381061,299,874 - 61,300,360UniSTSGRCm38
MGSCv371060,762,622 - 60,763,108UniSTSGRCm37
Celera1062,401,040 - 62,401,526UniSTS
Cytogenetic Map10B4UniSTS
cM Map1036.0UniSTS
PMC109669P2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381061,303,292 - 61,303,641UniSTSGRCm38
MGSCv371060,766,040 - 60,766,389UniSTSGRCm37
Celera1062,404,459 - 62,404,808UniSTS
Cytogenetic Map10B4UniSTS
cM Map1036.0UniSTS
PMC316374P4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381061,297,179 - 61,298,106UniSTSGRCm38
MGSCv371060,759,927 - 60,760,854UniSTSGRCm37
Celera1062,398,345 - 62,399,272UniSTS
Cytogenetic Map10B4UniSTS
cM Map1036.0UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000035419   ⟹   ENSMUSP00000041483
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1061,135,580 - 61,139,865 (+)Ensembl
GRCm38.p6 Ensembl1061,299,801 - 61,304,086 (+)Ensembl
Ensembl Acc Id: ENSMUST00000219375   ⟹   ENSMUSP00000151354
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1061,133,612 - 61,140,459 (+)Ensembl
GRCm38.p6 Ensembl1061,297,833 - 61,304,680 (+)Ensembl
RefSeq Acc Id: NM_011073   ⟹   NP_035203
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391061,133,615 - 61,140,042 (+)NCBI
GRCm381061,297,836 - 61,304,263 (+)NCBI
MGSCv371060,760,584 - 60,767,011 (+)RGD
Celera1062,399,002 - 62,405,430 (+)RGD
cM Map10 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006513370   ⟹   XP_006513433
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391061,133,530 - 61,140,463 (+)NCBI
GRCm381061,297,751 - 61,304,684 (+)NCBI
Sequence:
RefSeq Acc Id: NP_035203   ⟸   NM_011073
- Peptide Label: precursor
- UniProtKB: P10820 (UniProtKB/Swiss-Prot),   A2RSY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006513433   ⟸   XM_006513370
- Peptide Label: isoform X1
- UniProtKB: P10820 (UniProtKB/Swiss-Prot),   A2RSY7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000151354   ⟸   ENSMUST00000219375
Ensembl Acc Id: ENSMUSP00000041483   ⟸   ENSMUST00000035419
Protein Domains
C2   EGF-like   MACPF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10820-F1-model_v2 AlphaFold P10820 1-554 view protein structure

Promoters
RGD ID:6819765
Promoter ID:MM_KWN:4261
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lung,   Spleen
Transcripts:ENSMUST00000035419
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361060,760,056 - 60,760,556 (+)MPROMDB
RGD ID:8672088
Promoter ID:EPDNEW_M14075
Type:multiple initiation site
Name:Prf1_1
Description:Mus musculus perforin 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381061,297,818 - 61,297,878EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:97551 AgrOrtholog
Ensembl Genes ENSMUSG00000037202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000035419.7 UniProtKB/Swiss-Prot
  ENSMUST00000219375 ENTREZGENE
  ENSMUST00000219375.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Perforin-1_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Perforin-1_pore-forming UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:18646 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:97551 ENTREZGENE
NCBI Gene 18646 ENTREZGENE
PANTHER PERFORIN-1 UniProtKB/Swiss-Prot
  PERFORIN-1 UniProtKB/Swiss-Prot
  PERFORIN-1 UniProtKB/TrEMBL
  PERFORIN-1 UniProtKB/TrEMBL
Pfam MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PRF1 RGD
PhenoGen Prf1 PhenoGen
PROSITE MACPF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RSY7 ENTREZGENE, UniProtKB/TrEMBL
  P10820 ENTREZGENE, UniProtKB/Swiss-Prot