PSEN1
Sign in to saveAlso known as Ad3h, PS-1, PS1, S182, AD3, FAD, presenilin 1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.
Gene data
PSEN1- Name
- presenilin 1
- Type
- protein-coding
- Position
- 73,136,418–73,223,691 (+)
- Aliases
- ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
- Ensembl
- ENSG00000080815
- RefSeq RNA
- NM_000021.4, NM_007318.3, NM_007319.1, XM_005267864.4, XM_005267866.3
- RefSeq protein
- NP_000012.1, NP_015557.2, XP_005267921.1, XP_005267923.1, XP_011535274.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
presenilin 1
- Symbol
- PSEN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:73,136,418-73,223,691
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 10 more facts
- HomoloGene ID
- 7186
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5663
- genomic end
- 73690399
- genomic start
- 73603126
- chromosome
- human chromosome 14
- cytogenetic location
- 14q24.2
- genetic association
- Pick disease
- expressed in
- blood
- Commons category
- Presenilin-1
Sources (7)
via Wikidata · CC0
~6 min read
Encyclopedic overview
12 sectionsContents
- Structure
- Function
- Notch signaling pathway
- Wnt signaling pathway
- Clinical significance
- Beta-amyloid production
- Alzheimer's disease
- Cancer
- Interactions
- References
- Further reading
- External links
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.
== Structure ==
Excerpted from Wikipedia’s “PSEN1” article, available under the CC BY-SA 4.0 licence.