PSEN1

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
External IDs	MGI: 1202717 HomoloGene: 7186 GeneCards: PSEN1
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 • protein complex • 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 disc • neuronal cell body • perinuclear region of cytoplasm 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 • activation of MAPKK activity • 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 transport • brain morphogenesis • Notch signaling pathway • negative regulation of protein phosphorylation • myeloid leukocyte differentiation • neuron apoptotic process • single organismal cell-cell adhesion • 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 from RNA polymerase II promoter • 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 • cellular protein metabolic process • 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 protein ubiquitination involved in 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 • beta-amyloid formation • amyloid precursor protein metabolic process • neutrophil degranulation • regulation of canonical Wnt signaling pathway • beta-amyloid metabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5663	19164
Ensembl	ENSG00000080815	ENSMUSG00000019969
UniProt	P49768	P49769
RefSeq (mRNA)	NM_000021 NM_007318 NM_007319	NM_008943
RefSeq (protein)	NP_000012 NP_015557	NP_032969.1 NP_032969
Location (UCSC)	Chr 14: 73.14 – 73.22 Mb	Chr 12: 83.69 – 83.74 Mb
PubMed search

2KR6, 5A63, 4UIS, 5FN3, 5FN4, 5FN5, 5FN2

5663

19164

ENSG00000080815

ENSMUSG00000019969

P49768

P49769

NM_000021
NM_007318
NM_007319

NM_008943

NP_000012
NP_015557

NP_032969.1
NP_032969

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 precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.

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