• THAT   AND

Sequence in raw or FASTA format:


Blast Method:


Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Select
OHu27910D Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. pcDNA3.1-C-(k)DYK On-demand Starting from $99 7-9
OHu27910C Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. Your vector of choice On-demand Starting from $99 7-9
OHu27910M Mutant Clone for Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. pcDNA3.1-C-(k)DYK On-demand Starting from $149 Additional 5 days
OHu27910CM Mutant Clone for Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. Your vector of choice On-demand Starting from $149 Additional 5 days

*Business Day

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_007318.2, 195947396
Length 1392 bp
Structure linear
Update Date 09-JUN-2014
Organism Homo sapiens (human)
Definition Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA.
Product presenilin-1 isoform I-463

Summary: Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008].

Transcript Variant: This variant (2) uses an alternative donor splice site at one of the coding exons compared to transcript variant 1. It maintains the same reading frame, and encodes a shorter isoform (I-463) missing a 4 aa peptide compared to isoform I-467.

RefSeq NP_015557.2
CDS 285..1676
Misc Feature(1)222..224
Misc Feature(2)399..401
Misc Feature(3)399..401
Misc Feature(4)489..1646
Misc Feature(5)519..581
Misc Feature(6)669..731
Misc Feature(7)753..815
Misc Feature(8)843..905
Misc Feature(9)933..995
Misc Feature(10)1002..1064
Misc Feature(11)1143..1148
Misc Feature(12)1146..1151
Misc Feature(13)1164..1169
Misc Feature(14)1200..1202
Misc Feature(15)1236..1622
Misc Feature(16)1305..1310
Misc Feature(17)1308..1310
Misc Feature(18)1371..1373
Misc Feature(19)1386..1469
Misc Feature(20)1413..1475
Misc Feature(21)1494..1556
Misc Feature(22)1569..1577
Misc Feature(23)1662..1673
Exon (1)1..149
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (2)150..231
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (3)232..359
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (4)360..610
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (5)611..752
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (6)753..820
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (7)821..1041
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (8)1042..1140
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (9)1141..1227
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (10)1228..1401
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (11)1402..1520
Gene Synonym:AD3; FAD; PS-1; PS1; S182
Exon (12)1521..6078
Gene Synonym:AD3; FAD; PS-1; PS1; S182
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Position Chain Variation Link
15+a, gdbSNP:201092260
19+a, gdbSNP:202022163
26+c, tdbSNP:192945742
28+c, gdbSNP:201552708
30+c, tdbSNP:202004275
41+a, g, tdbSNP:200150596
46+c, gdbSNP:201392519
48+c, gdbSNP:199689757
59+a, cdbSNP:200531676
93+g, tdbSNP:201430897
94+c, tdbSNP:199680675
105+c, tdbSNP:200632899
118+c, tdbSNP:201613234
121+a, gdbSNP:199812637
127+a, gdbSNP:200698508
138+a, gdbSNP:201690864
139+c, gdbSNP:200082315
165+c, tdbSNP:200203966
187+c, tdbSNP:201506908
188+a, g, tdbSNP:202072789
197+a, gdbSNP:200583938
299+c, tdbSNP:371112119
305+a, g, tdbSNP:116466962
331+g, tdbSNP:199759305
355+a, cdbSNP:200598249
358+c, tdbSNP:201945418
367+a, gdbSNP:200824179
368+c, tdbSNP:201759335
376+a, gdbSNP:63750592
382+a, gdbSNP:200958188
389+c, tdbSNP:201900780
396+c, gdbSNP:140189461
397+a, gdbSNP:367775281
410+c, tdbSNP:116882898
417+c, gdbSNP:200373970
433+a, gdbSNP:201216284
449+c, tdbSNP:201998552
456+a, gdbSNP:116314689
488+a, gdbSNP:200141310
506+c, tdbSNP:143782428
508+c, tdbSNP:63749824
512+a, gdbSNP:200600659
515+c, tdbSNP:199564632
516+c, gdbSNP:63749967
519..524+, atcatgdbSNP:63750307
526+c, tdbSNP:63750599
536+c, tdbSNP:201113902
537+g, tdbSNP:63750815
547+c, gdbSNP:63751141
549+a, gdbSNP:146855665
552+a, gdbSNP:63750831
558+g, tdbSNP:63750601
561+a, g, tdbSNP:63750852
585+a, tdbSNP:63750325
587+g, tdbSNP:63750321
593+c, gdbSNP:139863395
594+c, tdbSNP:200576075
595+a, gdbSNP:200646139
609+c, tdbSNP:201500006
610+c, tdbSNP:63751399
615+g, tdbSNP:63749962
616+a, gdbSNP:63750450
617+c, tdbSNP:201363471
619+c, tdbSNP:63750730
621+c, tdbSNP:63750550
622+c, tdbSNP:63749805
630+a, gdbSNP:63750800
632+a, tdbSNP:63751272
638+c, tdbSNP:201644344
639+a, gdbSNP:63750378
657+a, gdbSNP:199951212
666+g, tdbSNP:200937800
675+a, gdbSNP:63750353
676+a, gdbSNP:63751278
679+c, gdbSNP:41345849
687+a, gdbSNP:63751037
688+c, tdbSNP:63751106
689+a, gdbSNP:63750522
699+a, tdbSNP:63750322
700+c, tdbSNP:63750004
701+g, tdbSNP:63751071
707+c, tdbSNP:202090424
708+a, c, g, tdbSNP:63750306
710+a, g, tdbSNP:63750391
712+c, tdbSNP:63750907
726+c, gdbSNP:142093869
729+c, g, tdbSNP:63751441
732+a, tdbSNP:63750588
733+a, gdbSNP:63751292
738..739+, ttatatdbSNP:63750631
743+g, tdbSNP:201617677
759+c, tdbSNP:63749885
760+a, gdbSNP:63750590
765+g, tdbSNP:63751010
767+c, gdbSNP:63751484
768..770+, cttdbSNP:63751458
769+c, g, tdbSNP:63750265
770..772+, tatdbSNP:63750879
772+c, tdbSNP:201641438
773+c, tdbSNP:199637432
777+c, tdbSNP:63750418
778+c, tdbSNP:63751210
781+c, tdbSNP:63750577
782+c, tdbSNP:200814320
784+c, tdbSNP:63750963
790+g, tdbSNP:63750299
792+a, cdbSNP:63751144
793+g, tdbSNP:63751025
796+c, tdbSNP:63750771
801+c, tdbSNP:63749911
802+c, tdbSNP:63749806
804+c, tdbSNP:63750155
809+c, tdbSNP:151170492
820+g, tdbSNP:63751068
824+a, cdbSNP:63750311
827+a, gdbSNP:368908264
844+c, tdbSNP:112451138
856+a, gdbSNP:200065583
864+c, gdbSNP:201375628
887+g, tdbSNP:1042864
888+a, gdbSNP:63750569
889+c, g, tdbSNP:63750082
897+a, gdbSNP:63749880
898+g, tdbSNP:63750053
909+a, c, tdbSNP:63750861
910+c, tdbSNP:63751309
912+c, tdbSNP:63751003
921+c, gdbSNP:267606983
922+a, gdbSNP:63750444
925+c, tdbSNP:140064975
926+a, gdbSNP:115760359
927+c, tdbSNP:63749987
928+c, tdbSNP:63750761
937+a, gdbSNP:63750009
938+c, gdbSNP:63751072
948+c, tdbSNP:63750487
949+g, tdbSNP:63749961
951+a, gdbSNP:199842082
957+a, tdbSNP:63749970
963+a, gdbSNP:63749836
964+c, tdbSNP:63750799
969+a, g, tdbSNP:63751287
970+c, tdbSNP:63751024
971+c, gdbSNP:63751479
975+c, gdbSNP:63751130
976+c, tdbSNP:63749835
981+c, tdbSNP:63750858
1001+a, gdbSNP:201037816
1005+a, cdbSNP:63750888
1009+a, cdbSNP:63750526
1020+g, tdbSNP:63750634
1021+c, tdbSNP:63751163
1039+a, cdbSNP:63751320
1043+c, tdbSNP:200481721
1046+a, gdbSNP:201775747
1051+c, tdbSNP:63751420
1053..1054+, ggttttdbSNP:150124100
1053+g, tdbSNP:63750964
1054+g, tdbSNP:199723282
1058+c, g, tdbSNP:63750248
1059+c, tdbSNP:63750543
1060+g, tdbSNP:63751102
1063+c, tdbSNP:63750301
1064+a, gdbSNP:150301281
1068+a, gdbSNP:121917807
1071+c, tdbSNP:63751229
1072+c, tdbSNP:63750779
1077+c, gdbSNP:63751019
1078+a, gdbSNP:63750900
1080+a, g, tdbSNP:114317083
1083+c, gdbSNP:63750886
1086+a, gdbSNP:200915258
1087+c, tdbSNP:63750680
1090+a, cdbSNP:63750772
1093+c, gdbSNP:63750284
1105+c, g, tdbSNP:63749891
1106+a, cdbSNP:63750524
1111+a, c, gdbSNP:63750231
1114+c, tdbSNP:114378630
1115+a, c, gdbSNP:186495252
1116+c, gdbSNP:63749937
1117+g, tdbSNP:63750050
1122+c, tdbSNP:63750324
1123+c, tdbSNP:63750863
1126+c, tdbSNP:63751139
1128+c, gdbSNP:63751235
1143+a, cdbSNP:63750298
1180+c, tdbSNP:147638016
1181+a, gdbSNP:377053325
1204+a, gdbSNP:115865530
1225+a, gdbSNP:17125721
1270+a, gdbSNP:121917809
1274+c, tdbSNP:116640707
1275+a, gdbSNP:138871096
1278+g, tdbSNP:200753166
1289+a, gdbSNP:201776669
1320+c, tdbSNP:199740663
1327..1328+, tcgdbSNP:63750762
1327+a, gdbSNP:149299753
1333+c, tdbSNP:63751164
1335+c, tdbSNP:376433615
1339+a, cdbSNP:143683769
1342+c, tdbSNP:111759355
1345+a, gdbSNP:63751174
1350+a, gdbSNP:199715992
1352+c, tdbSNP:368830324
1365+g, tdbSNP:200888596
1366+a, cdbSNP:63750941
1367+c, tdbSNP:201374878
1381+c, gdbSNP:141822345
1385+c, tdbSNP:200017951
1402+g, tdbSNP:63751051
1405+g, tdbSNP:63750323
1413+c, gdbSNP:63750687
1423+c, gdbSNP:63750646
1429+c, tdbSNP:63749860
1441+g, tdbSNP:63750883
1443+g, tdbSNP:63751066
1446+c, gdbSNP:63751416
1447+c, tdbSNP:63750218
1453+g, tdbSNP:63750929
1467..1468+, cdbSNP:146648448
1486+a, gdbSNP:63751254
1493+a, cdbSNP:201087233
1497+a, gdbSNP:63750227
1501+a, gdbSNP:661
1505+c, tdbSNP:146071629
1506+a, g, tdbSNP:200525059
1526+g, tdbSNP:63751316
1531+g, tdbSNP:63750802
1543+g, tdbSNP:63751032
1544+c, gdbSNP:200547750
1548+c, gdbSNP:63751223
1564+a, c, tdbSNP:63750083
1572..1573+gc, tgdbSNP:281875357
1575+c, tdbSNP:63750001
1578+c, tdbSNP:63749925
1579+a, cdbSNP:121917808
1583+c, tdbSNP:201453174
1587+a, gdbSNP:63750249
1590..1592+, accdbSNP:63750470
1619+a, gdbSNP:199632597
1621+a, gdbSNP:200644664
1635+c, tdbSNP:140169796
1649+a, gdbSNP:201496204
1658+c, tdbSNP:199803714
1673+c, tdbSNP:373992281
1685+c, tdbSNP:200464369
1686+a, gdbSNP:368170929
1715+a, gdbSNP:371102043
1724+a, cdbSNP:3182301
1725+a, gdbSNP:187743142
1747+a, gdbSNP:201452973
1784+c, tdbSNP:141804925
1785+a, gdbSNP:201260629
1795+c, tdbSNP:201908084
1796+c, tdbSNP:199805471
1821+a, cdbSNP:200954466
1822+c, tdbSNP:202109608
1825+c, tdbSNP:200435342
1842+a, tdbSNP:192302611
1858+a, gdbSNP:362383
1867+g, tdbSNP:200521615
1869+a, tdbSNP:201612328
1876+c, tdbSNP:199759123
1887+a, gdbSNP:200186908
1902+c, tdbSNP:201103361
1905+c, tdbSNP:199738569
1906+a, g, tdbSNP:200692223
1933+c, tdbSNP:201448807
1940+a, gdbSNP:146269771
1941+a, gdbSNP:199643125
1958+c, tdbSNP:200768844
1959+a, gdbSNP:182230408
1961+a, gdbSNP:139224866
1968+c, tdbSNP:200107446
1969+c, gdbSNP:186531618
1984+c, tdbSNP:11552351
1989+a, cdbSNP:362384
1990+a, gdbSNP:201726198
2004+c, tdbSNP:200067194
2034+c, tdbSNP:201219181
2036+a, cdbSNP:202176028
2038+c, tdbSNP:199801341
2039+a, gdbSNP:113991031
2040+c, tdbSNP:362385
2065+g, tdbSNP:149924956
2066+g, tdbSNP:200372973
2074+a, gdbSNP:201051937
2090+c, tdbSNP:192955858
2101+c, tdbSNP:201789400
2109+a, cdbSNP:200327005
2123+c, tdbSNP:201457009
2125+c, tdbSNP:112911413
2128+g, tdbSNP:200629432
2212+g, tdbSNP:201525609
2217+a, cdbSNP:199726791
2227+g, tdbSNP:200819835
2234+c, tdbSNP:201664286
2274+c, tdbSNP:190402057
2276+c, tdbSNP:199951672
2313+a, gdbSNP:200761597
2333+c, tdbSNP:201752111
2334+a, tdbSNP:200164246
2347+c, tdbSNP:374061412
2348+a, gdbSNP:192897390
2379+c, tdbSNP:202195241
2421+a, g, tdbSNP:184364208
2427+a, cdbSNP:201019113
2433+c, gdbSNP:201871244
2444+a, gdbSNP:200194433
2464+a, gdbSNP:367937261
2477+c, tdbSNP:201513640
2483+a, gdbSNP:202083888
2503+c, tdbSNP:200601334
2535+c, tdbSNP:201355661
2568+a, cdbSNP:199658581
2578+c, tdbSNP:200399921
2600..2601+, ccccdbSNP:377086298
2600+a, cdbSNP:200259626
2601+c, tdbSNP:189507244
2623+a, gdbSNP:7523
2641+a, tdbSNP:200612813
2678+a, tdbSNP:201940545
2686+c, tdbSNP:199676539
2691+c, tdbSNP:200984558
2692+a, gdbSNP:201375075
2694..2705+, tgctgtcagcccdbSNP:376753943
2697+c, tdbSNP:200019561
2701+a, gdbSNP:200836785
2705+a, cdbSNP:201521677
2715+a, cdbSNP:200178809
2718+g, tdbSNP:200976865
2738+c, tdbSNP:202199267
2743+c, gdbSNP:200486703
2752+c, tdbSNP:201383855
2767+a, gdbSNP:202134342
2768+g, tdbSNP:200157024
2782+g, tdbSNP:200818808
2791+c, tdbSNP:201322015
2800+c, tdbSNP:199708160
2808+g, tdbSNP:200597479
complement(2823)-g, adbSNP:165935
2827+c, tdbSNP:199636562
2830+c, tdbSNP:200809366
2980+a, gdbSNP:145022303
3056+c, tdbSNP:181825217
3057+a, gdbSNP:362387
3074+a, gdbSNP:144725513
3160+a, cdbSNP:147866042
3208+c, tdbSNP:141535751
3261+a, tdbSNP:185405511
3366+c, tdbSNP:10143618
3467+a, tdbSNP:177412
3473+a, cdbSNP:151111068
3550+g, tdbSNP:141117435
3623+a, gdbSNP:150235879
3656+c, tdbSNP:188214574
3683..3687+, tcattdbSNP:371208067
3784+a, gdbSNP:368329004
4058+g, tdbSNP:181556440
complement(4072)-g, adbSNP:138902912
4106+c, tdbSNP:362388
4120+c, tdbSNP:142405996
4192+c, tdbSNP:144680586
4219+c, tdbSNP:138620990
4256+c, tdbSNP:117394753
4521+c, tdbSNP:372427463
4522+a, gdbSNP:370528248
4540+a, cdbSNP:362389
4678+c, tdbSNP:374546705
4730+c, tdbSNP:186309281
4777+c, tdbSNP:367826892
4807+a, gdbSNP:192063907
4875+c, tdbSNP:371718090
4989+a, gdbSNP:375314975
5000+a, gdbSNP:35684204
5004+c, gdbSNP:181726819
5034+a, gdbSNP:74061006
5036+a, gdbSNP:362390
5056+a, gdbSNP:367954967
5171+a, gdbSNP:141799841
5184+a, gdbSNP:150550252
5201+a, gdbSNP:362391
5214+c, gdbSNP:362392
5242+a, gdbSNP:74061007
5308+a, gdbSNP:362393
5313+c, tdbSNP:114000457
5398+c, tdbSNP:362344
5402+a, tdbSNP:185698561
5419..5423+, cacaadbSNP:137925118
5434+a, tdbSNP:59966121
5499+a, gdbSNP:362394
5505+a, gdbSNP:377151507
5507+c, tdbSNP:362395
complement(5508)-g, adbSNP:139574327
5565+a, gdbSNP:17125952
5573+c, tdbSNP:190950740
5617+a, cdbSNP:144455736
complement(5655)-t, cdbSNP:14428
5656+a, gdbSNP:147903216
5706+a, gdbSNP:186752250
5771+a, gdbSNP:369540718
5788+c, tdbSNP:140012487
5789+a, gdbSNP:190718487
5823+g, tdbSNP:362396
Gene SymbolPSEN1
Gene SynonymAD3; FAD; PS-1; PS1; S182
Locus Map14q24.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. On-demand Starting from $99 7-9
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. On-demand Starting from $99 7-9
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. On-demand Starting from $99 7-9
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. On-demand Starting from $99 7-9
Title Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis .
Author Sepulveda-Falla,D., Barrera-Ocampo,A., Hagel,C., Korwitz,A., Vinueza-Veloz,M.F., Zhou,K., Schonewille,M., Zhou,H., Velazquez-Perez,L., Rodriguez-Labrada,R., Villegas,A., Ferrer,I., Lopera,F., Langer,T., De Zeeuw,C.I. and Glatzel,M.
Journal J. Clin. Invest. 124 (4), 1552-1567 (2014)
Title ApoER2 processing by presenilin-1 modulates reelin expression .
Author Balmaceda V, Cuchillo-Ibanez I, Pujadas L, Garcia-Ayllon MS, Saura CA, Nimpf J, Soriano E and Saez-Valero J.
Journal FASEB J. 28 (4), 1543-1554 (2014)
Title Presenilins regulate neurotrypsin gene expression and neurotrypsin-dependent agrin cleavage via cyclic AMP response element-binding protein (CREB) modulation .
Author Almenar-Queralt A, Kim SN, Benner C, Herrera CM, Kang DE, Garcia-Bassets I and Goldstein LS.
Journal J. Biol. Chem. 288 (49), 35222-35236 (2013)
Title The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-epsilon4 carriers .
Author Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA, Fagan AM, Holtzman D, Morris JC, Goate AM and Cruchaga C.
Journal PLoS Genet. 9 (8), E1003685 (2013)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Early-Onset Familial Alzheimer Disease .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Alzheimer Disease Overview .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 .
Author St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A and Crapper McLachlan D.
Journal Nat. Genet. 2 (4), 330-334 (1992)
Title Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14 .
Author Schellenberg,G.D., Bird,T.D., Wijsman,E.M., Orr,H.T., Anderson,L., Nemens,E., White,J.A., Bonnycastle,L., Weber,J.L., Alonso,M.E. et al.
Journal Science 258 (5082), 668-671 (1992)
Title Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease .
Author Schellenberg GD, Boehnke M, Wijsman EM, Moore DK, Martin GM and Bird TD.
Journal Ann. Neurol. 31 (2), 223-227 (1992)

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