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Psen1 presenilin 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 29192, updated on 27-Dec-2024

Summary

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Official Symbol: Psen1provided by RGD
Official Full Name: presenilin 1provided by RGD
Primary source: RGD:3425
See related: EnsemblRapid:ENSRNOG00000009110 AllianceGenome:RGD:3425
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables endopeptidase activity. Involved in several processes, including negative regulation of neuron apoptotic process; neural retina development; and proteolysis. Located in several cellular components, including cytoplasmic vesicle; lysosomal membrane; and sarcolemma. Part of protein-containing complex. Is active in presynaptic membrane. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 210.6), Adrenal (RPKM 141.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

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See Psen1 in Genome Data Viewer

Location:: 6q31

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (109054160..109106191)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (103323052..103375088)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (107169514..107221000)

Chromosome 6 - NC_086024.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-141-3p regulates saturated fatty acid-induced cardiomyocyte apoptosis through Notch1/PTEN/AKT pathway via targeting PSEN1.
Title: miR-141-3p regulates saturated fatty acid-induced cardiomyocyte apoptosis through Notch1/PTEN/AKT pathway via targeting PSEN1.
Knock-in rats with homozygous PSEN1(L435F) Alzheimer mutation are viable and show selective gamma-secretase activity loss causing low Abeta40/42 and high Abeta43.
Title: Knock-in rats with homozygous PSEN1(L435F) Alzheimer mutation are viable and show selective γ-secretase activity loss causing low Aβ40/42 and high Aβ43.
results revealed a common, vesicle-type indiscriminate trafficking defect in PS1DeltaE9 astrocytes
Title: Presenilin PS1∆E9 disrupts mobility of secretory organelles in rat astrocytes.
Downregulating the expression of miR-375, miR-30a, and miR-34a restored PSEN1, PSEN2, and NICD1 production and prevented glucotoxicity-induced impairment of the beta cells.Our findings demonstrated that miRNA-mediated suppression of NICD1 links the presenilin/Notch1 pathway to glucotoxicity in mature pancreatic beta cells
Title: A Presenilin/Notch1 pathway regulated by miR-375, miR-30a, and miR-34a mediates glucotoxicity induced-pancreatic beta cell apoptosis.
Cultured hippocampal neurons expressing mutant PS1 had attenuated CCE that was associated with destabilized dendritic spines, which were rescued by either gamma-secretase inhibition or overexpression of STIM1.
Title: Familial Alzheimer's disease-associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+ entry.
PS1 expression is triggered by glutamate through p38alpha, contributing to the excitotoxic stimulus of EW
Title: The Role of Presenilin-1 in the Excitotoxicity of Ethanol Withdrawal.
Quantitative reverse-transcriptase PCR assay demonstrated that the expression of APP, beta- and gamma-secretase, and PSEN1 that contribute to Abeta peptide generation was dysregulated during 30 days in postischemic hippocampal CA1 area
Title: Dysregulation of Amyloid-β Protein Precursor, β-Secretase, Presenilin 1 and 2 Genes in the Rat Selectively Vulnerable CA1 Subfield of Hippocampus Following Transient Global Brain Ischemia.
Vitamin E may depress the production of Abeta by regulating the expression of PS-1 in the hippocampus of female senile rats.
Title: [Effects of vitamin E on expression of PS-1 and production of Abeta in the hippocampus of female senile rats].
Presenilin/gamma-secretase regulates neurexin processing at synapses
Title: Presenilin/γ-secretase regulates neurexin processing at synapses.
PS1, APP and Abeta double staining with cell-type specific markers showed colocalization of PS1 with axons in the white matter of the lesioned side. These findings suggest that RIP signaling occurs following rat spinal cord injury.
Title: Temporal-spatial expression of presenilin 1 and the production of amyloid-beta after acute spinal cord injury in adult rat.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130315 (e-PCR)
- UniSTS:213599

BF396895 (e-PCR)
- UniSTS:245876

RH138321 (e-PCR)
- UniSTS:220408

RH139353 (e-PCR)
- UniSTS:221439

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
contributes_to aspartic endopeptidase activity, intramembrane cleaving	ISO Inferred from Sequence Orthology more info
enables aspartic endopeptidase activity, intramembrane cleaving	ISO Inferred from Sequence Orthology more info
enables aspartic endopeptidase activity, intramembrane cleaving	ISS Inferred from Sequence or Structural Similarity more info
enables aspartic-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Cajal-Retzius cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect L-glutamate import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Notch receptor processing	ISO Inferred from Sequence Orthology more info
involved_in Notch receptor processing	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T cell activation involved in immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid precursor protein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid precursor protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within amyloid-beta metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in astrocyte activation	ISO Inferred from Sequence Orthology more info
involved_in astrocyte activation involved in immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagosome assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate specification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amyloid-beta	ISO Inferred from Sequence Orthology more info
involved_in cerebellum development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within cerebral cortex cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within choline transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral neural tube patterning	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic limb morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in eye photoreceptor cell development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within forebrain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart looping	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within learning or memory	ISO Inferred from Sequence Orthology more info
involved_in learning or memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within locomotion	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within memory	ISO Inferred from Sequence Orthology more info
involved_in memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrial transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid dendritic cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid leukocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epidermal growth factor-activated receptor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
involved_in neural retina development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within neurogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron development	ISO Inferred from Sequence Orthology more info
involved_in neuron development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron migration	ISO Inferred from Sequence Orthology more info
involved_in neuron projection maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of L-glutamate import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of MAP kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of amyloid fibril formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of coagulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendritic spine development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of glycolytic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein import into nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	ISO Inferred from Sequence Orthology more info
involved_in protein catabolic process at postsynapse	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein glycosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein maturation	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of epidermal growth factor-activated receptor activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of resting membrane potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic plasticity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within segmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect sequestering of calcium ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in skin morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smooth endoplasmic reticulum calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within somitogenesis	ISO Inferred from Sequence Orthology more info
involved_in synapse organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synaptic vesicle targeting	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thymus development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in aggresome	ISO Inferred from Sequence Orthology more info
located_in aggresome	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary rootlet	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	ISO Inferred from Sequence Orthology more info
part_of gamma-secretase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear outer membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in rough endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in smooth endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: presenilin-1

Names: PS-1

NP_062036.2

EC 3.4.23.-

XP_006240384.1

EC 3.4.23.-

XP_063117645.1

EC 3.4.23.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.