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PSEN1 presenilin 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000021 Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol PSEN1
Entrez Gene ID 5663
Full Name presenilin 1
Synonyms AD3, FAD, PS-1, PS1, S182
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q24.3

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].
Disorder

MIM: 104311

Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3,

mRNA Protein Product Sequence Price Select
NM_000021, 195947402 NP_000012, 4506163 presenilin-1 isoform I-467 ORF Sequence $550.00
NM_007318, 195947396 NP_015557, 195947397 presenilin-1 isoform I-463 ORF Sequence $550.00
KEGG
hsa04330Notch signaling pathway
hsa04310Wnt signaling pathway
hsa04722Neurotrophin signaling pathway
hsa05010Alzheimer's disease
WikiPathways
WP61Delta-Notch Signaling Pathway
WP2059Alzheimers Disease
WP268Notch Signaling Pathway
Pathway Interaction Database
p75ntrpathwayp75(NTR)-mediated signaling
syndecan_3_pathwaySyndecan-3-mediated signaling events
ps1pathwayPresenilin action in Notch and Wnt signaling
Reactome
REACT_111102Signal Transduction
REACT_118859Signaling by NOTCH1
REACT_299Signaling by NOTCH
REACT_11061Signalling by NGF
REACT_13776p75 NTR receptor-mediated signalling
REACT_118614Activated NOTCH1 Transmits Signal to the Nucleus
REACT_13720Cell death signalling via NRAGE, NRIF and NADE
REACT_116022Nuclear signaling by ERBB4
REACT_118721Signaling by NOTCH2
REACT_118862Signaling by NOTCH3
REACT_13443Regulated proteolysis of p75NTR
REACT_118636Signaling by NOTCH4
REACT_13643NRIF signals cell death from the nucleus
REACT_115596Signaling by ERBB4
Homo sapiens (human)PSEN1NP_000012.1
Pan troglodytes (chimpanzee)PSEN1XP_001150037.1
Macaca mulatta (Rhesus monkey)PSEN1XP_001088635.1
Canis lupus familiaris (dog)PSEN1NP_001002943.1
Bos taurus (cattle)PSEN1NP_777146.1
Mus musculus (house mouse)Psen1NP_032969.1
Rattus norvegicus (Norway rat)Psen1NP_062036.2
Gallus gallus (chicken)PSEN1NP_989494.1
Danio rerio (zebrafish)psen1NP_571099.1
Drosophila melanogaster (fruit fly)PsnNP_001137988.1
Caenorhabditis eleganssel-12NP_508175.1
Arabidopsis thaliana (thale cress)PS1NP_172346.1
GeneCards PSEN1
PDB 2KR6
UniProt P49768
MIM 104311
Ensembl ENSG00000080815
HGNC 9508
HPRD 00087

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
presenilin-1
Names
presenilin-1
NP_000012.1
NP_015557.2

Interactant



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