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PSEN1 presenilin 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu27909 NM_000021 Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27910 NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27909 XM_005267864 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27910 XM_005267866 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27909C NM_000021 Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu27910C NM_007318 Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu27909C XM_005267864 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu27910C XM_005267866 PREDICTED: Homo sapiens presenilin 1 (PSEN1), transcript variant X3, mRNA. Customized vector On-demand 7-9 $269.00

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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?

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