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)
End	73,223,691 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	83,781,973 bp
RNA expression pattern
	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
	; ;
	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; soma; 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
	5663
	19164
	ENSG00000080815
	ENSMUSG00000019969
	P49768
	P49769
	NM_000021; NM_007318; NM_007319
	NM_008943; NM_001362271
	NP_000012; NP_015557
	NP_001349200
	Wikidata
View/Edit Human	View/Edit Mouse

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.