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|---|---|
| Accession Number: | P49810 |
| Protein Name: | Presenilin-2 aka AD3LP aka AD5 |
| Length: | 448 |
| Molecular Weight: | 50140.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 9 |
| Location1 / Topology2 / Orientation3: | Endoplasmic reticulum membrane1 / Multi-pass membrane protein2 |
| Substrate | calcium(2+) |
Cross database links:
| RefSeq: | NP_000438.2 NP_036618.2 |
|---|---|
| Entrez Gene ID: | 5664 |
| Pfam: | PF01080 |
| OMIM: |
600759 gene 606889 phenotype |
| KEGG: | hsa:5664 |
Gene Ontology
GO:0005789
C:endoplasmic reticulum membrane
GO:0000139
C:Golgi membrane
GO:0005887
C:integral to plasma membrane
GO:0005515
F:protein binding
GO:0042987
P:amyloid precursor protein catabolic process
GO:0006915
P:apoptosis
GO:0008624
P:induction of apoptosis by extracellular sig...
GO:0007242
?:?
GO:0006509
P:membrane protein ectodomain proteolysis
GO:0031293
P:membrane protein intracellular domain prote...
GO:0007220
P:Notch receptor processing
GO:0043085
P:positive regulation of catalytic activity
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References (16)[1] “Candidate gene for the chromosome 1 familial Alzheimer's disease locus.” Levy-Lahad E.et.al. 7638622 [2] “Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.” Rogaev E.I.et.al. 7651536 [3] “Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.” Li J.et.al. 8618867 [4] “Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.” Levy-Lahad E.et.al. 8661049 [5] “The DNA sequence and biological annotation of human chromosome 1.” Gregory S.G.et.al. 16710414 [6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [7] “Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.” Kovacs D.M.et.al. 8574969 [8] “Interaction of presenilins with the filamin family of actin-binding proteins.” Zhang W.et.al. 9437013 [9] “A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling.” Steiner H.et.al. 10497236 [10] “The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation.” Kimberly W.T.et.al. 10652302 [11] “Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.” Sai X.et.al. 11799129 [12] “Presenilin mutations in Alzheimer's disease.” Cruts M.et.al. 9521418 [13] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.” Gauci S.et.al. 19413330 [14] “Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.” Cruts M.et.al. 9384602 [15] “A novel mutation in the predicted TM2 domain of the presenilin 2 gene in Spanish patient with late-onset Alzheimer's disease.” Lao J.I.et.al. 10732806 [16] “High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.” Finckh U.et.al. 10631141
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MLTFMASDSE EEVCDERTSL MSAESPTPRS CQEGRQGPED GENTAQWRSQ ENEEDGEEDP 61: DRYVCSGVPG RPPGLEEELT LKYGAKHVIM LFVPVTLCMI VVVATIKSVR FYTEKNGQLI 121: YTPFTEDTPS VGQRLLNSVL NTLIMISVIV VMTIFLVVLY KYRCYKFIHG WLIMSSLMLL 181: FLFTYIYLGE VLKTYNVAMD YPTLLLTVWN FGAVGMVCIH WKGPLVLQQA YLIMISALMA 241: LVFIKYLPEW SAWVILGAIS VYDLVAVLCP KGPLRMLVET AQERNEPIFP ALIYSSAMVW 301: TVGMAKLDPS SQGALQLPYD PEMEEDSYDS FGEPSYPEVF EPPLTGYPGE ELEEEEERGV 361: KLGLGDFIFY SVLVGKAAAT GSGDWNTTLA CFVAILIGLC LTLLLLAVFK KALPALPISI 421: TFGLIFYFST DNLVRPFMDT LASHQLYI