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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 29-APR-2013
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(120..121)-, 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
complement(231)-g, adbSNP: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(325)-t, cdbSNP: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(503)-t, cdbSNP:139336186
complement(511)-g, adbSNP:34279237
complement(515)-t, cdbSNP:202091142
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(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
complement(683)-t, gdbSNP:104894183
complement(698)-g, adbSNP:150156593
complement(739)-g, adbSNP:200332545
complement(750)-g, adbSNP:141130900
complement(761)-t, gdbSNP:146414576
complement(765)-g, adbSNP:144004164
complement(794)-t, cdbSNP:202217604
complement(808)-t, cdbSNP:28933973
complement(809)-t, cdbSNP:140281371
complement(837)-t, cdbSNP:138508223
complement(839)-g, adbSNP:142403457
complement(861)-g, adbSNP:35329429
complement(890)-g, adbSNP: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
complement(957)-t, cdbSNP:885821
complement(971)-g, adbSNP:104894182
complement(985)-t, cdbSNP:199962500
complement(986)-t, cdbSNP:200716028
complement(1001)-g, adbSNP:150628656
complement(1008)-g, adbSNP:149008090
complement(1021)-g, adbSNP:148237800
complement(1035)-t, cdbSNP:885822
complement(1062)-g, adbSNP:142643493
complement(1080)-t, cdbSNP:138159445
complement(1083)-t, gdbSNP:201235771
complement(1086)-t, cdbSNP:201565901
complement(1096)-t, cdbSNP:145234214
complement(1134)-g, adbSNP:140260618
complement(1135)-t, cdbSNP:145463632
complement(1168)-g, adbSNP:200641752
complement(1169)-t, c, adbSNP:28933374
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(1253)-t, cdbSNP:140179771
complement(1257)-g, adbSNP:104894176
complement(1275)-t, cdbSNP:144926997
complement(1298)-t, gdbSNP:193302875
complement(1329)-c, adbSNP:148706255
complement(1337)-g, adbSNP:144242324
complement(1341)-g, adbSNP:149581266
complement(1363)-g, adbSNP:139322149
complement(1364)-t, cdbSNP:150558419
complement(1381)-t, cdbSNP:193302876
complement(1389)-g, cdbSNP:200789852
complement(1396)-g, adbSNP:202216158
complement(1397)-c, adbSNP:200534908
complement(1409)-t, cdbSNP:142606828
complement(1411)-g, adbSNP:1042652
complement(1421)-g, adbSNP:104894181
complement(1439)-t, cdbSNP: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
complement(1512)-t, cdbSNP:2228019
complement(1546)-g, adbSNP:143040535
complement(1563)-t, cdbSNP:145695221
complement(1608)-g, adbSNP:144968603
complement(1636)-g, adbSNP:200589152
complement(1656)-c, adbSNP:200015777
complement(1695)-g, adbSNP:147087107
complement(1709)-t, cdbSNP:141702424
complement(1755)-t, cdbSNP:149776121
complement(1778)-t, cdbSNP:144892262
complement(1849)-g, adbSNP:140956842
complement(1892)-g, adbSNP:6480459
complement(1899)-g, adbSNP:1889490
complement(1920)-g, adbSNP:146571282
complement(1940)-c, adbSNP:184146097
complement(1942)-t, g, adbSNP:56743633
complement(1977)-g, adbSNP:74513535
complement(1998)-t, adbSNP:79084177
complement(2012)-, adbSNP:34914326
complement(2169)-g, adbSNP:139298157
complement(2170)-g, cdbSNP:146245380
complement(2179)-t, cdbSNP:191816002
complement(2211)-t, cdbSNP:143433002
complement(2284)-t, cdbSNP:187368446
complement(2285)-g, adbSNP:183113813
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_001083116 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_005041 Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
Title High levels of FCgammaR3A and PRF1 expression in peripheral blood mononuclear cells from patients with primary biliary cirrhosis .
Author Li,S., Ma,D., Zhang,L., Li,X., Deng,C., Qin,X., Zhang,T., Wang,L., Shi,Q., Wang,Q., Wu,Q., Zhang,X., Zhang,F. and Li,Y.
Journal Dig. Dis. Sci. 58 (2), 458-464 (2013)
Title Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11 .
Author Sepulveda,F.E., Debeurme,F., Menasche,G., Kurowska,M., Cote,M., Pachlopnik Schmid,J., Fischer,A. and de Saint Basile,G.
Journal Blood 121 (4), 595-603 (2013)
Title The major CD8 T cell effector memory subset in the normal and Chlamydia trachomatis-infected human endocervix is low in perforin .
Author Ibana,J.A., Myers,L., Porretta,C., Lewis,M., Taylor,S.N., Martin,D.H. and Quayle,A.J.
Journal BMC Immunol. 13, 66 (2012)
Title Ectopically expressed perforin-1 is proapoptotic in tumor cell lines by increasing caspase-3 activity and the nuclear translocation of cytochrome C .
Author Wang,L.F., Wang,F., Li,J.T., Wen,W.H., Zhao,J., Jia,L.T., Meng,Y.L., Cao,Y.X., Yao,L.B., Chen,S.Y., Xu,Y.M. and Yang,A.G.
Journal PLoS ONE 7 (7), E40639 (2012)
Title Performance of polymerase chain reaction techniques detecting perforin in the diagnosis of acute renal rejection: a meta-analysis .
Author Shang,Y., Ju,W., Kong,Y., Schroder,P.M., Liang,W., Ling,X., Guo,Z. and He,X.
Journal PLoS ONE 7 (6), E39610 (2012)
Title Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10 .
Author Fink,T.M., Zimmer,M., Weitz,S., Tschopp,J., Jenne,D.E. 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,M.C., Amiguet,P., Guy,R., Brunner,J., Maizel,J.V. Jr. and Tschopp,J.
Journal Mol. Immunol. 27 (7), 589-602 (1990)
Title Structure of the human perforin gene. A simple gene organization with interesting potential regulatory sequences .
Author Lichtenheld,M.G. and Podack,E.R.
Journal J. Immunol. 143 (12), 4267-4274 (1989)
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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