Gene Information
|
Gene Name
|
PSEN1 |
|
Gene ID
|
5663
|
|
Gene Full Name
|
presenilin 1 |
|
Gene Alias
|
ACNINV3|AD3|CMD1U|FAD|PS-1|PS1|PSNL1|S182 |
|
Transcripts
|
ENSG00000080815
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Golgi apparatus;Nucleoplasm, Cell Junctions; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
P49768
|
|
HGNC ID
|
HGNC:9508
|
|
OMIM ID
|
104311 |
|
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] |
Target gene [PSEN1] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6004802 |
chr14 |
71 |
4 |
29 |
104 |
View |
Target gene [PSEN1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE19080
|
Expression array |
38 |
Homo sapiens 3K Immunoarray2 HTLV-1 JH |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - PSEN1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
