Presenilin-1

PSEN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KR6, 5A63, 4UIS, 5FN3, 5FN4, 5FN5, 5FN2
Identifiers
Aliases	PSEN1, Psen1, Ad3h, PS-1, PS1, S182, AD3, FAD, presenilin 1, ACNINV3
External IDs	OMIM: 104311; MGI: 1202717; HomoloGene: 7186; GeneCards: PSEN1; OMA:PSEN1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.2 Start 73,136,418 bp[1] End 73,223,691 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 D1|12 38.84 cM Start 83,734,926 bp[2] End 83,781,973 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle frontal gyrus corpus callosum C1 segment monocyte rectum Achilles tendon mucosa of ileum sural nerve amniotic fluid blood Top expressed in transitional epithelium of urinary bladder seminiferous tubule primary oocyte left colon submandibular gland granulocyte ileum ankle spermatid zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function PDZ domain binding cadherin binding peptidase activity beta-catenin binding protein binding calcium channel activity aspartic-type endopeptidase activity endopeptidase activity hydrolase activity aspartic endopeptidase activity, intramembrane cleaving Cellular component nuclear membrane membrane mitochondrion ciliary rootlet neuron projection gamma-secretase complex nucleus kinetochore centrosome rough endoplasmic reticulum dendritic shaft aggresome cell surface membrane-bounded organelle endoplasmic reticulum membrane raft Golgi apparatus growth cone neuromuscular junction intracellular anatomical structure axon nuclear outer membrane endoplasmic reticulum membrane Golgi membrane integral component of plasma membrane smooth endoplasmic reticulum lysosomal membrane cell junction dendrite presynapse mitochondrial inner membrane cytoplasmic vesicle cytoplasm plasma membrane cell cortex integral component of membrane azurophil granule membrane Z discdkac neuronal cell body perinuclear region of cytoplasm early endosome synaptic vesicle protein-containing complex sarcolemma synapse synaptic membrane integral component of presynaptic membrane endosome early endosome membrane cell projection Biological process negative regulation of neuron apoptotic process somitogenesis positive regulation of protein phosphorylation positive regulation of MAP kinase activity positive regulation of catalytic activity mitochondrial transport post-embryonic development positive regulation of dendritic spine development cellular response to DNA damage stimulus heart looping blood vessel development membrane protein ectodomain proteolysis regulation of epidermal growth factor-activated receptor activity regulation of resting membrane potential regulation of synaptic transmission, glutamatergic amyloid precursor protein catabolic process apoptotic process thymus development positive regulation of coagulation negative regulation of apoptotic signaling pathway neuron development memory endoplasmic reticulum calcium ion homeostasis response to oxidative stress autophagosome assembly positive regulation of transcription, DNA-templated heart development negative regulation of axonogenesis embryonic limb morphogenesis locomotion learning or memory protein transport cerebral cortex cell migration positive regulation of proteasomal ubiquitin-dependent protein catabolic process L-glutamate transmembrane transport brain morphogenesis Notch signaling pathway negative regulation of protein phosphorylation myeloid leukocyte differentiation neuron apoptotic process smooth endoplasmic reticulum calcium ion homeostasis synaptic vesicle targeting Cajal-Retzius cell differentiation skin morphogenesis negative regulation of protein kinase activity cell fate specification skeletal system morphogenesis regulation of phosphorylation cellular calcium ion homeostasis epithelial cell proliferation neuron migration negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II proteolysis regulation of synaptic plasticity negative regulation of epidermal growth factor-activated receptor activity cell adhesion hematopoietic progenitor cell differentiation neuron differentiation cerebral cortex development canonical Wnt signaling pathway dorsal/ventral neural tube patterning neural retina development positive regulation of protein kinase activity T cell activation involved in immune response neurogenesis intracellular signal transduction protein processing protein maturation myeloid dendritic cell differentiation autophagy protein glycosylation brain development negative regulation of ubiquitin-protein transferase activity choline transport positive regulation of apoptotic process Notch receptor processing negative regulation of ubiquitin-dependent protein catabolic process forebrain development regulation of protein binding T cell receptor signaling pathway segmentation positive regulation of receptor recycling calcium ion transmembrane transport amyloid-beta formation amyloid precursor protein metabolic process neutrophil degranulation regulation of canonical Wnt signaling pathway amyloid-beta metabolic process positive regulation of L-glutamate import across plasma membrane astrocyte activation involved in immune response regulation of neuron projection development cerebellum development positive regulation of protein binding Notch receptor processing, ligand-dependent positive regulation of phosphorylation astrocyte activation synapse organization cell-cell adhesion cellular response to amyloid-beta negative regulation of core promoter binding negative regulation of low-density lipoprotein receptor activity positive regulation of amyloid fibril formation neuron projection maintenance membrane protein intracellular domain proteolysis positive regulation of protein import into nucleus ephrin receptor signaling pathway positive regulation of gene expression negative regulation of gene expression positive regulation of glycolytic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5663 19164 Ensembl ENSG00000080815 ENSMUSG00000019969 UniProt P49768 P49769 RefSeq (mRNA) NM_000021 NM_007318 NM_007319 NM_008943 NM_001362271 RefSeq (protein) NP_000012 NP_015557 NP_001349200 Location (UCSC) Chr 14: 73.14 – 73.22 Mb Chr 12: 83.73 – 83.78 Mb PubMed search [3] [4]
Wikidata
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Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.^[5] 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.^[6]