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Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_005041.4, 133908619
Length 2529 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA.
Product perforin-1 precursor
Comment

Summary: The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the shorter transcript.

RefSeq NP_005032.2
CDS 136..1803
Misc Feature(1)82..84
Misc Feature(2)634..1242
Misc Feature(3)775..777
Misc Feature(4)1165..1167
Misc Feature(5)1297..1677
Misc Feature(6)order(1423..1425,1441..1443,1585..1587,1591..1593,
Misc Feature(7)748..756
Exon (1)1..131
Gene:PRF1
Gene Synonym:FLH2; HPLH2; P1; PFN1; PFP
Exon (2)132..674
Gene:PRF1
Gene Synonym:FLH2; HPLH2; P1; PFN1; PFP
Exon (3)675..2508
Gene:PRF1
Gene Synonym:FLH2; HPLH2; P1; PFN1; PFP
Translation MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ MLLGEPPGNRSGAVW
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Position Chain Variation Link
complement(53)-dbSNP:
complement(53)-t, cdbSNP:114178404
complement(119..120)-, gdbSNP:35444577
complement(145)-g, adbSNP:12161733
complement(146)-t, cdbSNP:35418374
complement(185)-, adbSNP:147035858
complement(214)-t, cdbSNP:147051158
complement(217)-g, adbSNP:141660796
231+a, gdbSNP:2228018
complement(247)-t, cdbSNP:201909472
complement(267)-t, gdbSNP:181323749
complement(295)-g, adbSNP:200430442
complement(296)-t, cdbSNP:150357196
complement(298)-g, adbSNP:201032696
complement(299)-t, cdbSNP:140385034
complement(303)-t, cdbSNP:376059674
325+c, tdbSNP:104894180
complement(337)-g, adbSNP:151232299
complement(345)-g, adbSNP:202134601
complement(346)-t, cdbSNP:142059134
complement(375)-t, adbSNP:140752768
complement(407)-g, adbSNP:35947132
complement(421)-t, gdbSNP:144024245
complement(446)-t, cdbSNP:139225004
complement(498)-t, cdbSNP:146358730
complement(502)-g, adbSNP:370935432
complement(503)-t, cdbSNP:139336186
complement(511)-g, adbSNP:34279237
complement(515)-t, cdbSNP:202091142
complement(528)-t, gdbSNP:374948681
complement(529)-t, cdbSNP:201382038
complement(538)-t, cdbSNP:12263572
complement(539)-c, adbSNP:200912683
complement(547)-t, cdbSNP:201804583
complement(554)-t, gdbSNP:199885522
complement(570)-t, cdbSNP:115281140
complement(578)-t, gdbSNP:142012387
complement(579)-g, adbSNP:61737403
complement(580)-t, cdbSNP:147462227
complement(597)-t, cdbSNP:116554195
complement(600)-g, adbSNP:372962147
complement(612)-g, cdbSNP:139175805
complement(622)-g, adbSNP:200712365
complement(624)-g, adbSNP:143546173
complement(654)-t, g, cdbSNP:112883709
complement(663)-g, adbSNP:138588977
complement(664)-g, adbSNP:201468340
complement(680)-dbSNP:
complement(680)-t, cdbSNP:200383720
683+g, tdbSNP:104894183
complement(698)-g, adbSNP:150156593
complement(739)-g, adbSNP:200332545
complement(750)-g, adbSNP:141130900
complement(759)-g, adbSNP:375086595
complement(761)-t, gdbSNP:146414576
complement(765)-g, adbSNP:144004164
complement(767)-g, adbSNP:368524364
complement(794)-t, cdbSNP:202217604
808+c, tdbSNP:28933973
complement(809)-t, cdbSNP:140281371
complement(837)-t, cdbSNP:138508223
complement(839)-g, adbSNP:142403457
complement(861)-g, adbSNP:35329429
890+a, gdbSNP:28933375
complement(891)-g, adbSNP:150053969
complement(910)-t, cdbSNP:200368788
complement(925)-t, cdbSNP:140218388
complement(931)-t, cdbSNP:200824018
complement(942)-g, adbSNP:147453010
complement(943)-t, cdbSNP:143043887
957+c, tdbSNP:885821
971+a, gdbSNP:104894182
complement(985)-t, cdbSNP:199962500
complement(986)-t, cdbSNP:200716028
complement(1001)-g, adbSNP:150628656
complement(1005)-g, c, adbSNP:376506267
complement(1008)-g, adbSNP:149008090
complement(1021)-g, adbSNP:148237800
1035+c, tdbSNP:885822
complement(1062)-g, adbSNP:142643493
complement(1080)-t, cdbSNP:138159445
complement(1083)-t, g, adbSNP:201235771
complement(1086)-t, cdbSNP:201565901
complement(1096)-t, cdbSNP:145234214
complement(1102)-t, cdbSNP:375522165
complement(1115)-g, adbSNP:371021342
complement(1125)-g, adbSNP:368769599
complement(1134)-g, adbSNP:140260618
complement(1135)-t, cdbSNP:145463632
complement(1168)-g, adbSNP:200641752
1169+a, c, tdbSNP:28933374
complement(1171)-g, adbSNP:374261838
complement(1176)-g, adbSNP:150104693
complement(1205)-t, cdbSNP:140787739
complement(1213)-g, adbSNP:151083232
complement(1241)-g, adbSNP:201584464
complement(1242)-t, cdbSNP:145589960
complement(1247)-t, cdbSNP:199522390
complement(1252)-g, adbSNP:374588624
complement(1253)-t, cdbSNP:140179771
complement(1254)-t, gdbSNP:370384696
1257+a, gdbSNP:104894176
complement(1275)-t, cdbSNP:144926997
complement(1279)-g, adbSNP:377367451
1298+g, tdbSNP:193302875
complement(1300)-g, adbSNP:376289273
complement(1329)-c, adbSNP:148706255
complement(1337)-g, adbSNP:144242324
complement(1341)-g, adbSNP:149581266
complement(1342)-t, cdbSNP:371232368
complement(1363)-g, adbSNP:139322149
complement(1364)-t, cdbSNP:150558419
1381+c, tdbSNP:193302876
complement(1389)-g, cdbSNP:200789852
complement(1396)-g, adbSNP:202216158
complement(1397)-c, adbSNP:200534908
complement(1409)-t, cdbSNP:142606828
1411+a, gdbSNP:1042652
1421+a, gdbSNP:104894181
1439+c, tdbSNP:28933376
complement(1440)-t, cdbSNP:200167080
complement(1445)-g, adbSNP:138126912
complement(1474)-g, cdbSNP:145513232
complement(1484)-g, adbSNP:189650890
complement(1485)-t, cdbSNP:200312496
complement(1492)-t, cdbSNP:141864315
1512+c, tdbSNP:2228019
complement(1546)-g, adbSNP:143040535
complement(1562)-t, cdbSNP:377665096
complement(1563)-t, cdbSNP:145695221
complement(1608)-g, adbSNP:144968603
complement(1634)-g, adbSNP:375473178
complement(1636)-g, adbSNP:200589152
complement(1656)-c, adbSNP:200015777
complement(1693)-g, adbSNP:377162454
complement(1695)-g, adbSNP:147087107
complement(1709)-t, cdbSNP:141702424
complement(1755)-t, cdbSNP:149776121
complement(1774)-g, adbSNP:372713247
complement(1778)-t, cdbSNP:144892262
complement(1834)-t, adbSNP:376512084
complement(1849)-g, adbSNP:140956842
complement(1892)-g, adbSNP:6480459
1899+a, gdbSNP:1889490
complement(1920)-g, adbSNP:146571282
complement(1940)-c, adbSNP:184146097
complement(1942)-t, g, adbSNP:56743633
complement(1977)-g, adbSNP:74513535
complement(1997..1999)-, aaadbSNP:367570230
complement(1998)-t, adbSNP:79084177
complement(2012)-, adbSNP:34914326
2169+a, gdbSNP:139298157
complement(2170)-g, cdbSNP:146245380
complement(2179)-t, cdbSNP:191816002
complement(2211)-t, cdbSNP:143433002
complement(2244)-t, cdbSNP:375066000
complement(2284)-t, cdbSNP:187368446
complement(2285)-g, adbSNP:183113813
complement(2308)-t, cdbSNP:368777270
complement(2321)-c, adbSNP:377317822
complement(2324)-t, gdbSNP:193221010
Gene SymbolPRF1
Gene SynonymFLH2; HPLH2; P1; PFN1; PFP
Chromosome10
Locus Map10q22
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001083116 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
Title Circulating CD56dim NK cells expressing perforin are increased in progressive multiple sclerosis .
Author Plantone D, Marti A, Frisullo G, Iorio R, Damato V, Nociti V, Patanella AK, Bianco A, Mirabella M and Batocchi AP.
Journal J. Neuroimmunol. 265 (1-2), 124-127 (2013)
Title Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation .
Author Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA and Boerkoel CF.
Journal Eur. J. Hum. Genet. 21 (11), 1232-1239 (2013)
Title Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients .
Author An O, Gursoy A, Gurgey A and Keskin O.
Journal Protein Sci. 22 (6), 823-839 (2013)
Title Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients .
Author Corrales-Tellez E, Vu D, Shah T, Hutchinson I and Min DI.
Journal Clin Transplant 27 (3), E308-E315 (2013)
Title An acidic microenvironment increases NK cell killing of Cryptococcus neoformans and Cryptococcus gattii by enhancing perforin degranulation .
Author Islam A, Li SS, Oykhman P, Timm-McCann M, Huston SM, Stack D, Xiang RF, Kelly MM and Mody CH.
Journal PLoS Pathog. 9 (7), E1003439 (2013)
Title Hemophagocytic Lymphohistiocytosis, Familial .
Author Zhang,K., Filipovich,A.H., Johnson,J., Marsh,R.A. and Villanueva,J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10 .
Author Fink TM, Zimmer M, Weitz S, Tschopp J, Jenne DE and Lichter P.
Journal Genomics 13 (4), 1300-1302 (1992)
Title Localization and molecular modelling of the membrane-inserted domain of the ninth component of human complement and perforin .
Author Peitsch MC, Amiguet P, Guy R, Brunner J, Maizel JV Jr and Tschopp J.
Journal Mol. Immunol. 27 (7), 589-602 (1990)
Title The ninth component of complement and the pore-forming protein (perforin 1) from cytotoxic T cells: structural, immunological, and functional similarities .
Author Young,J.D., Cohn,Z.A. and Podack,E.R.
Journal Science 233 (4760), 184-190 (1986)
Title Purification and characterization of a cytolytic pore-forming protein from granules of cloned lymphocytes with natural killer activity .
Author Young,J.D., Hengartner,H., Podack,E.R. and Cohn,Z.A.
Journal Cell 44 (6), 849-859 (1986)

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