Description: Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. RefSeq Summary (NM_007318): 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 (Including UTRs) Position: hg19 chr14:73,614,675-73,690,399 Size: 75,725 Total Exon Count: 11 Strand: +
Alzheimer's Disease Matsubara-Tsutsui, M. et al. 2002, The 4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers., Internal medicine (Tokyo, Japan). 2002 Oct;41(10):823-8.
[PubMed 12413003]
The PSEN1 gene -4,752 C/T polymorphism modifies the risk for AD.
Alzheimer's Disease Liu, X. et al. 2004, [Study on mutation of presenilin-1 gene in familial Alzheimer's disease], Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):455-8.
[PubMed 15476169]
Mutations in exon 6 of presenilin-1 existed in the patients with FAD and SDA, and the two missense mutations were probably pathological by nature.
Alzheimer's Disease Ma, Q. et al. 2000, [Analysis of the interaction of the polymorphisms of presenilin-1 gene and ApoE gene in Alzheimerns disease], Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):390-4.
[PubMed 11110974]
These results indicated that allele 2 of PS-1 gene and E(2) allele of ApoE gene might protect people from SAD, that allele 1 of PS-1 gene might increase the risk of the onset of SAD, and that the onset of SAD was not associated with the interaction of the polymorphisms of PS-1 gene and ApoE gene.
Press "+" in the title bar above to open this section.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
LF384869 - JP 2014500723-A/192372: Polycomb-Associated Non-Coding RNAs. AK303876 - Homo sapiens cDNA FLJ53003 complete cds, highly similar to Presenilin-1 (EC 3.4.23.-). AK312531 - Homo sapiens cDNA, FLJ92900, Homo sapiens presenilin 1 (Alzheimer disease 3) (PSEN1), transcriptvariant I-467, mRNA. BC011729 - Homo sapiens presenilin 1, mRNA (cDNA clone MGC:19554 IMAGE:4423098), complete cds. L42110 - Homo sapiens (clone cc33) S182 mRNA, complete cds. L76517 - Homo sapiens (clone cc44) senilin 1 (PS1; S182) mRNA, complete cds. AK223173 - Homo sapiens mRNA for presenilin 1 isoform I-463 variant, clone: LNG14348. AF416717 - Homo sapiens presenilin 1 (PSEN1) mRNA, complete cds. AB384851 - Synthetic construct DNA, clone: pF1KB3765, Homo sapiens PSEN1 gene for presenilin-1, complete cds, without stop codon, in Flexi system. KU178285 - Homo sapiens presenilin 1 isoform 1 (PSEN1) mRNA, partial cds. KU178286 - Homo sapiens presenilin 1 isoform 2 (PSEN1) mRNA, partial cds. KU178287 - Homo sapiens presenilin 1 isoform 3 (PSEN1) mRNA, complete cds, alternatively spliced. HQ447260 - Synthetic construct Homo sapiens clone IMAGE:100070569; CCSB006970_02 presenilin 1 (Alzheimer disease 3) (PSEN1) gene, encodes complete protein. KJ891910 - Synthetic construct Homo sapiens clone ccsbBroadEn_01304 PSEN1 gene, encodes complete protein. U40379 - Human presenilin I-463 (AD3-3) mRNA, complete cds. U40380 - Human presenilin I-374 (AD3-212) mRNA, complete cds. AK122722 - Homo sapiens cDNA FLJ16221 fis, clone CTONG3002728, highly similar to PRESENILIN 1. MA620446 - JP 2018138019-A/192372: Polycomb-Associated Non-Coding RNAs. AJ008005 - Homo sapiens PSN1 gene, alternative transcript. CU680030 - Synthetic construct Homo sapiens gateway clone IMAGE:100019517 5' read PSEN1 mRNA. LF329945 - JP 2014500723-A/137448: Polycomb-Associated Non-Coding RNAs. LF329946 - JP 2014500723-A/137449: Polycomb-Associated Non-Coding RNAs. MA565522 - JP 2018138019-A/137448: Polycomb-Associated Non-Coding RNAs. MA565523 - JP 2018138019-A/137449: Polycomb-Associated Non-Coding RNAs. LF329950 - JP 2014500723-A/137453: Polycomb-Associated Non-Coding RNAs. JD071652 - Sequence 52676 from Patent EP1572962. JD161203 - Sequence 142227 from Patent EP1572962. JD547023 - Sequence 528047 from Patent EP1572962. LF329951 - JP 2014500723-A/137454: Polycomb-Associated Non-Coding RNAs. JD086452 - Sequence 67476 from Patent EP1572962. JD190424 - Sequence 171448 from Patent EP1572962. JD245299 - Sequence 226323 from Patent EP1572962. JD540083 - Sequence 521107 from Patent EP1572962. JD420260 - Sequence 401284 from Patent EP1572962. JD316266 - Sequence 297290 from Patent EP1572962. JD059174 - Sequence 40198 from Patent EP1572962. JD358422 - Sequence 339446 from Patent EP1572962. JD288008 - Sequence 269032 from Patent EP1572962. JD486400 - Sequence 467424 from Patent EP1572962. JD061143 - Sequence 42167 from Patent EP1572962. JD383084 - Sequence 364108 from Patent EP1572962. JD068221 - Sequence 49245 from Patent EP1572962. JD063356 - Sequence 44380 from Patent EP1572962. JD092294 - Sequence 73318 from Patent EP1572962. JD449459 - Sequence 430483 from Patent EP1572962. JD396687 - Sequence 377711 from Patent EP1572962. JD280397 - Sequence 261421 from Patent EP1572962. JD153196 - Sequence 134220 from Patent EP1572962. JD161372 - Sequence 142396 from Patent EP1572962. JD300192 - Sequence 281216 from Patent EP1572962. JD424265 - Sequence 405289 from Patent EP1572962. JD556572 - Sequence 537596 from Patent EP1572962. JD317191 - Sequence 298215 from Patent EP1572962. AK094186 - Homo sapiens cDNA FLJ36867 fis, clone ASTRO2016491. JD064018 - Sequence 45042 from Patent EP1572962. LF209590 - JP 2014500723-A/17093: Polycomb-Associated Non-Coding RNAs. AK094256 - Homo sapiens cDNA FLJ36937 fis, clone BRACE2005433. LF329952 - JP 2014500723-A/137455: Polycomb-Associated Non-Coding RNAs. JD027258 - Sequence 8282 from Patent EP1572962. JD020500 - Sequence 1524 from Patent EP1572962. JD029541 - Sequence 10565 from Patent EP1572962. JD028703 - Sequence 9727 from Patent EP1572962. MA565527 - JP 2018138019-A/137453: Polycomb-Associated Non-Coding RNAs. MA565528 - JP 2018138019-A/137454: Polycomb-Associated Non-Coding RNAs. MA565529 - JP 2018138019-A/137455: Polycomb-Associated Non-Coding RNAs. MA445167 - JP 2018138019-A/17093: Polycomb-Associated Non-Coding RNAs.
BioCarta from NCI Cancer Genome Anatomy Project h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF h_appPathway - Generation of amyloid b-peptide by PS1 h_ps1Pathway - Presenilin action in Notch and Wnt signaling h_notchpathway - Proteolysis and Signaling Pathway of Notch h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway