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


RefSeq Accession Definition Sequence Price Select
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. Full Lenth $2742.75
ORF Sequence $403.68


RefSeq Version NM_007318.2, 195947396
Length 6095 bp
Structure linear
Update Date 24-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA.
Product presenilin-1 isoform I-463
Comment

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].


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
Exon (1)1..149
Exon (2)1..149
Exon (3)150..231
Exon (4)232..359
Exon (5)360..610
Exon (6)611..752
Exon (7)753..820
Exon (8)821..1041
Exon (9)1042..1140
Exon (10)1141..1227
Exon (11)1228..1401
Exon (12)1402..1520
Exon (13)1521..6078
Translation MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVE QDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTET VGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFIYLGE VFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPE AQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQEL SSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCLTLLL LAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI
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Position Chain Variation Link
305+a, gdbSNP:116466962
376+a, gdbSNP:63750592
410+c, tdbSNP:116882898
456+a, gdbSNP:116314689
508+c, tdbSNP:63749824
516+c, gdbSNP:63749967
519..524+, atcatgdbSNP:63750307
526+c, tdbSNP:63750599
537+g, tdbSNP:63750815
547+c, gdbSNP:63751141
552+a, gdbSNP:63750831
558+g, tdbSNP:63750601
561+g, tdbSNP:63750852
585+a, tdbSNP:63750325
587+g, tdbSNP:63750321
610+a, c, tdbSNP:63751399
610+, largedeletiondbSNP:71788729
615+c, g, tdbSNP:63749962
616+a, gdbSNP:63750450
619+a, c, tdbSNP:63750730
621+c, tdbSNP:63750550
622+c, g, tdbSNP:63749805
630+a, gdbSNP:63750800
632+a, c, tdbSNP:63751272
639+a, gdbSNP:63750378
675+a, gdbSNP:63750353
676+a, gdbSNP:63751278
679+c, gdbSNP:41345849
687+a, gdbSNP:63751037
688+a, c, tdbSNP:63751106
689+a, gdbSNP:63750522
699+a, tdbSNP:63750322
700+a, c, tdbSNP:63750004
701+g, tdbSNP:63751071
708+a, c, g, tdbSNP:63750306
710+a, c, g, tdbSNP:63750391
712+c, tdbSNP:63750907
729+c, gdbSNP:63751441
732+a, tdbSNP:63750588
733+a, gdbSNP:63751292
738..739+, ttatatdbSNP:63750631
759+c, tdbSNP:63749885
760+a, gdbSNP:63750590
765+g, tdbSNP:63751010
767+c, gdbSNP:63751484
768..770+, cttdbSNP:63751458
769+a, c, g, tdbSNP:63750265
770..772+, tatdbSNP:63750879
777+c, tdbSNP:63750418
778+c, tdbSNP:63751210
781+c, tdbSNP:63750577
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
820+g, tdbSNP:63751068
824+a, cdbSNP:63750311
844+c, tdbSNP:112451138
887+g, tdbSNP:1042864
888+a, gdbSNP:63750569
889+a, c, g, tdbSNP:63750082
897+a, gdbSNP:63749880
898+a, g, tdbSNP:63750053
909+a, c, tdbSNP:63750861
910+c, tdbSNP:63751309
912+c, tdbSNP:63751003
922+a, gdbSNP:63750444
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
957+a, tdbSNP:63749970
963+a, gdbSNP:63749836
964+c, tdbSNP:63750799
969+a, c, g, tdbSNP:63751287
970+c, tdbSNP:63751024
971+c, gdbSNP:63751479
975+c, gdbSNP:63751130
976+c, tdbSNP:63749835
981+a, c, tdbSNP:63750858
1005+a, cdbSNP:63750888
1009+a, cdbSNP:63750526
1020+g, tdbSNP:63750634
1021+c, tdbSNP:63751163
1039+a, cdbSNP:63751320
1051+c, tdbSNP:63751420
1053+g, tdbSNP:63750964
1058+c, gdbSNP:63750248
1059+c, tdbSNP:63750543
1060+g, tdbSNP:63751102
1063+c, tdbSNP:63750301
1071+c, tdbSNP:63751229
1072+c, tdbSNP:63750779
1077+c, gdbSNP:63751019
1078+a, gdbSNP:63750900
1080+a, gdbSNP:114317083
1083+c, gdbSNP:63750886
1087+c, tdbSNP:63750680
1090+a, cdbSNP:63750772
1093+c, gdbSNP:63750284
1105+a, c, g, tdbSNP:63749891
1106+a, cdbSNP:63750524
1111+a, c, gdbSNP:63750231
1114+c, tdbSNP:114378630
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
1204+a, gdbSNP:115865530
1225+a, gdbSNP:17125721
1274+c, tdbSNP:116640707
1327..1328+, tcgdbSNP:63750762
1333+c, tdbSNP:63751164
1342+c, tdbSNP:111759355
1345+a, gdbSNP:63751174
1366+a, cdbSNP:63750941
1402+g, tdbSNP:63751051
1405+a, 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
1486+a, gdbSNP:63751254
1497+a, gdbSNP:63750227
1501+a, gdbSNP:661
1526+g, tdbSNP:63751316
1531+g, tdbSNP:63750802
1543+a, g, tdbSNP:63751032
1548+c, gdbSNP:63751223
1564+a, c, tdbSNP:63750083
1572+g, tdbSNP:63750528
1573+c, gdbSNP:63750341
1575+c, tdbSNP:63750001
1578+c, tdbSNP:63749925
1587+a, gdbSNP:63750249
1590..1592+, accdbSNP:63750470
1724+a, cdbSNP:3182301
1858+a, gdbSNP:362383
1984+c, tdbSNP:11552351
1989+a, cdbSNP:362384
2039+a, gdbSNP:113991031
2040+c, tdbSNP:362385
2125+c, tdbSNP:112911413
2600+a, cdbSNP:78722386
2623+a, gdbSNP:7523
2782+g, tdbSNP:75884719
complement(2823)-g, adbSNP:165935
3057+a, gdbSNP:362387
3366+c, tdbSNP:10143618
3467+a, tdbSNP:177412
4106+c, tdbSNP:362388
4256+c, tdbSNP:117394753
4268+g, tdbSNP:76337987
4271+g, tdbSNP:79948277
4311+a, cdbSNP:117754140
4540+a, cdbSNP:362389
5000+a, gdbSNP:35684204
5034+a, gdbSNP:74061006
5036+a, gdbSNP:362390
5201+a, gdbSNP:362391
5214+c, gdbSNP:362392
5242+a, gdbSNP:74061007
5308+a, gdbSNP:362393
5313+c, tdbSNP:114000457
5398+c, tdbSNP:362344
5434+a, tdbSNP:59966121
5499+a, gdbSNP:362394
5507+c, tdbSNP:362395
5565+a, gdbSNP:17125952
complement(5655)-t, cdbSNP:14428
5823+g, tdbSNP:362396
5986+, tadbSNP:71662641
Gene SymbolPSEN1
Gene SynonymAD3; FAD; PS-1; PS1; S182
Chromosome14
Locus Map14q24.3
All Transcripts NM_007318 , NM_000021
Title Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study .
Author Acosta-Baena,N., Sepulveda-Falla,D., Lopera-Gomez,C.M., Jaramillo-Elorza,M.C., Moreno,S., Aguirre-Acevedo,D.C., Saldarriaga,A. and Lopera,F.
Journal Lancet Neurol 10 (3), 213-220 (2011)
Title Gamma-secretase gene mutations in familial acne inversa .
Author Wang,B., Yang,W., Wen,W., Sun,J., Su,B., Liu,B., Ma,D., Lv,D., Wen,Y., Qu,T., Chen,M., Sun,M., Shen,Y. and Zhang,X.
Journal Science 330 (6007), 1065 (2010)
Title An approach based on a genome-wide association study reveals candidate loci for narcolepsy .
Author Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y., Honda,M. and Tokunaga,K.
Journal Hum. Genet. 128 (4), 433-441 (2010)
Title Exploration of 16 candidate genes identifies the association of IDE with Alzheimer's disease in Han Chinese .
Author Wang,F., Shu,C., Jia,L., Zuo,X., Zhang,Y., Zhou,A., Qin,W., Song,H., Wei,C., Zhang,F., Hong,Z., Tang,M., Wang,D.M. and Jia,J.
Journal Neurobiol. Aging (2010) In press
Title [Familial Alzheimer's disease mutations in the presenilin 1 gene reduce cell-cell adhesion in transfected fibroblasts] .
Author Shvartsman,A.L., Sarantseva,S.V., Runova,O.L., Talalaeva,E.I. and Vitek,M.P.
Journal Biofizika 55 (5), 862-867 (2010)
Title Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease .
Author Sorbi,S., Nacmias,B., Forleo,P., Piacentini,S., Sherrington,R., Rogaev,E., St George Hyslop,P. and Amaducci,L.
Journal Lancet 346 (8972), 439-440 (1995)
Title Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease .
Author Sherrington,R., Rogaev,E.I., Liang,Y., Rogaeva,E.A., Levesque,G., Ikeda,M., Chi,H., Lin,C., Li,G., Holman,K., Tsuda,T., Mar,L., Foncin,J.F., Bruni,A.C., Montesi,M.P., Sorbi,S., Rainero,I., Pinessi,L., Nee,L., Chumakov,I., Pollen,D., Brookes,A., Sanseau,P., Polinsky,R.J., Wasco,W., Da Silva,H.A., Haines,J.L., Perkicak-Vance,M.A., Tanzi,R.E., Roses,A.D., Fraser,P.E., Rommens,J.M. and St George-Hyslop,P.H.
Journal Nature 375 (6534), 754-760 (1995)
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,J.F., Montesi,M., Bruni,A., Sorbi,S. et al.
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,G.D., Boehnke,M., Wijsman,E.M., Moore,D.K., Martin,G.M. and Bird,T.D.
Journal Ann. Neurol. 31 (2), 223-227 (1992)

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