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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
XM_005267864 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005267866 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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Gene Symbol PSEN1
Entrez Gene ID 5663
Full Name presenilin 1
Synonyms AD3, FAD, PS-1, PS1, S182
General protein information
Preferred Names
presenilin-1
Names
presenilin-1
NP_000012.1
NP_015557.2
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
XM_005267864, 530404201 XP_005267921, 530404202 presenilin-1 isoform X1 ORF Sequence $550.00
XM_005267866, 530404205 XP_005267923, 530404206 presenilin-1 isoform X3 ORF Sequence $550.00
KEGG
hsa04310Wnt signaling pathway
hsa04330Notch signaling pathway
hsa05010Alzheimer's disease
hsa04722Neurotrophin signaling pathway
WikiPathways
WP61Delta-Notch Signaling Pathway
WP268Notch Signaling Pathway
WP2059Alzheimers Disease
Pathway Interaction Database
ps1pathwayPresenilin action in Notch and Wnt signaling
syndecan_3_pathwaySyndecan-3-mediated signaling events
p75ntrpathwayp75(NTR)-mediated signaling
Reactome
REACT_118572Degradation of the extracellular matrix
REACT_118779Extracellular matrix organization
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
Caenorhabditis eleganssel-12NP_508175.1
Arabidopsis thaliana (thale cress)PS2NP_180551.1
Arabidopsis thaliana (thale cress)PS1NP_172346.1
Xenopus (Silurana) tropicalis (western clawed frog)psen1NP_001027027.1
Process
IDNameEvidence
GO:0000045autophagic vacuole assemblyIEA
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA
GO:0000186activation of MAPKK activityIEA
GO:0001568blood vessel developmentIEA
GO:0001708cell fate specificationIEA
GO:0001756somitogenesisIEA
GO:0001764neuron migrationIEA
GO:0001921positive regulation of receptor recyclingIEA
GO:0001947heart loopingIEA
GO:0002244hematopoietic progenitor cell differentiationIEA
GO:0002286T cell activation involved in immune responseIEA
GO:0002573myeloid leukocyte differentiationIEA
GO:0006486protein glycosylationIEA
GO:0006509membrane protein ectodomain proteolysisIDA
GO:0006839mitochondrial transportIEA
GO:0006974cellular response to DNA damage stimulusIEA
GO:0006979response to oxidative stressIEA
GO:0007175negative regulation of epidermal growth factor-activated receptor activityIEA
GO:0007219Notch signaling pathwayIEA
GO:0007220Notch receptor processingIBA
GO:0007220Notch receptor processingTAS
GO:0007613memoryIEA
GO:0009791post-embryonic developmentIEA
GO:0015031protein transportIEA
GO:0015813L-glutamate transportIEA
GO:0015871choline transportIEA
GO:0016080synaptic vesicle targetingIEA
GO:0016337single organismal cell-cell adhesionIMP
GO:0016485protein processingIDA
GO:0021795cerebral cortex cell migrationIEA
GO:0021870Cajal-Retzius cell differentiationIEA
GO:0021904dorsal/ventral neural tube patterningIEA
GO:0022617extracellular matrix disassemblyTAS
GO:0030198extracellular matrix organizationTAS
GO:0030326embryonic limb morphogenesisIEA
GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic processIEA
GO:0032469endoplasmic reticulum calcium ion homeostasisIDA
GO:0032469endoplasmic reticulum calcium ion homeostasisIGI
GO:0034205beta-amyloid formationIEA
GO:0035556intracellular signal transductionIEA
GO:0042325regulation of phosphorylationIDA
GO:0042640anagenIEA
GO:0042987amyloid precursor protein catabolic processIBA
GO:0042987amyloid precursor protein catabolic processTAS
GO:0043065positive regulation of apoptotic processIEA
GO:0043066negative regulation of apoptotic processIDA
GO:0043085positive regulation of catalytic activityIDA
GO:0043393regulation of protein bindingIEA
GO:0043406positive regulation of MAP kinase activityIEA
GO:0043524negative regulation of neuron apoptotic processIEA
GO:0043589skin morphogenesisIEA
GO:0048167regulation of synaptic plasticityIEA
GO:0048538thymus developmentIEA
GO:0048666neuron developmentIEA
GO:0048705skeletal system morphogenesisIEA
GO:0048854brain morphogenesisIEA
GO:0050435beta-amyloid metabolic processIBA
GO:0050673epithelial cell proliferationIEA
GO:0050771negative regulation of axonogenesisIEA
GO:0050820positive regulation of coagulationIEA
GO:0050852T cell receptor signaling pathwayIEA
GO:0051402neuron apoptotic processIEA
GO:0051444negative regulation of ubiquitin-protein transferase activityIEA
GO:0051563smooth endoplasmic reticulum calcium ion homeostasisIBA
GO:0051966regulation of synaptic transmission, glutamatergicIEA
GO:0060070canonical Wnt signaling pathwayIBA
GO:0060075regulation of resting membrane potentialIEA
GO:0070588calcium ion transmembrane transportIMP
GO:2000059negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processIEA
GO:2001234negative regulation of apoptotic signaling pathwayIEA
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0000776kinetochoreIDA
GO:0005640nuclear outer membraneIDA
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneIBA
GO:0005765lysosomal membraneIBA
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneIEA
GO:0005790smooth endoplasmic reticulumIDA
GO:0005791rough endoplasmic reticulumIDA
GO:0005794Golgi apparatusIDA
GO:0005813centrosomeIDA
GO:0005887integral component of plasma membraneIDA
GO:0005938cell cortexIBA
GO:0009986cell surfaceIBA
GO:0016020membraneIDA
GO:0016021integral component of membraneTAS
GO:0016324apical plasma membraneIBA
GO:0030018Z discIBA
GO:0030424axonIBA
GO:0030426growth coneIBA
GO:0031410cytoplasmic vesicleIEA
GO:0031594neuromuscular junctionIBA
GO:0031965nuclear membraneIDA
GO:0035253ciliary rootletIBA
GO:0043025neuronal cell bodyIBA
GO:0043198dendritic shaftIBA
GO:0045121membrane raftIBA
GO:0045121membrane raftIDA
GO:0048471perinuclear region of cytoplasmIBA
GO:0070765gamma-secretase complexIDA
Function
IDNameEvidence
GO:0004175endopeptidase activityIDA
GO:0004190aspartic-type endopeptidase activityIEA
GO:0005262calcium channel activityIMP
GO:0005515protein bindingIPI
GO:0008013beta-catenin bindingIPI
GO:0030165PDZ domain bindingIPI
GO:0045296cadherin bindingIBA
GeneCards PSEN1
UniProt P49768
Vega OTTHUMG00000141279
MIM 104311
Ensembl ENSG00000080815
HGNC 9508
HPRD 00087

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

What is the normal function of the PSEN1 gene?

The PSEN1 gene provides instructions for making a protein called presenilin 1. This protein is one part (subunit) of a complex called gamma- (γ-) secretase. Presenilin 1 carries out the major function of the complex, which is to cut apart (cleave) other proteins into smaller pieces called peptides. This process is called proteolysis, and presenilin 1 is described as the proteolytic subunit of γ-secretase.

The γ-secretase complex is located in the membrane that surrounds cells, where it cleaves many different proteins that span the cell membrane (transmembrane proteins). This cleavage is an important step in several chemical signaling pathways that transmit signals from outside the cell into the nucleus. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function.

The γ-secretase complex may be best known for its role in processing amyloid precursor protein (APP), which is made in the brain and other tissues. γ-secretase cuts APP into smaller peptides, including soluble amyloid precursor protein (sAPP) and several versions of amyloid-beta (β) peptide. Evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of nerve cells (neurons) in the brain both before and after birth. Other functions of sAPP and amyloid-β peptide are under investigation.

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