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Psen1 presenilin 1 [ Mus musculus (house mouse) ]

Gene ID: 19164, updated on 14-Nov-2024

Summary

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Official Symbol: Psen1provided by MGI
Official Full Name: presenilin 1provided by MGI
Primary source: MGI:MGI:1202717
See related: Ensembl:ENSMUSG00000019969 AllianceGenome:MGI:1202717
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PS1; Ad3h; PS-1; S182
Summary: Enables aspartic-type endopeptidase activity and cadherin binding activity. Contributes to aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including positive regulation of receptor recycling; protein catabolic process at postsynapse; and regulation of protein metabolic process. Acts upstream of or within with a positive effect on L-glutamate import across plasma membrane; gene expression; and sequestering of calcium ion. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; nervous system development; and regulation of protein kinase activity. Located in several cellular components, including ciliary rootlet; dendritic shaft; and growth cone. Part of gamma-secretase complex. Is active in glutamatergic synapse. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and hemolymphoid system. Used to study Alzheimer's disease and Alzheimer's disease 3. 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, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 17.9), large intestine adult (RPKM 14.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

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See Psen1 in Genome Data Viewer

Location:: 12 D1; 12 38.84 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (83734926..83781869)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (83688152..83735095)

Chromosome 12 - NC_000078.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Potential Related Genes and Mechanisms Involved in Improving the Treadmill Exercise Ability of APP/PS1 Mice.
Title: The Potential Related Genes and Mechanisms Involved in Improving the Treadmill Exercise Ability of APP/PS1 Mice.
Cortical neurodegeneration caused by Psen1 mutations is independent of Abeta.
Title: Cortical neurodegeneration caused by Psen1 mutations is independent of Aβ.
Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
Title: Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
Early amyloid-induced changes in microglia gene expression in male APP/PS1 mice.
Title: Early amyloid-induced changes in microglia gene expression in male APP/PS1 mice.
Large-scale gene expression changes in APP/PSEN1 and GFAP mutation models exhibit high congruence with Alzheimer's disease.
Title: Large-scale gene expression changes in APP/PSEN1 and GFAP mutation models exhibit high congruence with Alzheimer's disease.
Antagonizing LINGO-1 reduces activated microglia and alleviates dendritic spine loss in the hippocampus of APP/PS1 transgenic mice.
Title: Antagonizing LINGO-1 reduces activated microglia and alleviates dendritic spine loss in the hippocampus of APP/PS1 transgenic mice.
Sex-Dependent Effects of Chronic Circadian Disruption in AbetaPP/PS1 Mice.
Title: Sex-Dependent Effects of Chronic Circadian Disruption in AβPP/PS1 Mice.
Discrepancy of synaptic and microtubular protein phosphorylation in the hippocampus of APP/PS1 and MAPTxP301S transgenic mice at the early stage of Alzheimer's disease.
Title: Discrepancy of synaptic and microtubular protein phosphorylation in the hippocampus of APP/PS1 and MAPT×P301S transgenic mice at the early stage of Alzheimer's disease.
Pathogenic Abeta production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1.
Title: Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1.
Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes.
Title: Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes.

Submit: New GeneRIF Correction See all GeneRIFs (283)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Targeted (27) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Psen1 (e-PCR), detects polymorphism
- UniSTS:259648

Psen1 (e-PCR), detects polymorphism
- UniSTS:144272

Psen1 (e-PCR), detects polymorphism
- UniSTS:527507

NoName (e-PCR)
- UniSTS:225180

AF007560 (e-PCR)
- UniSTS:180423

PMC22431P1 (e-PCR)
- UniSTS:272106

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
contributes_to aspartic endopeptidase activity, intramembrane cleaving	IGI Inferred from Genetic Interaction more info	PubMed
enables aspartic endopeptidase activity, intramembrane cleaving	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to aspartic endopeptidase activity, intramembrane cleaving	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables growth factor receptor binding	IEA Inferred from Electronic Annotation more info
enables growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary rootlet	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
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	IC Inferred by Curator more info	PubMed
part_of gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in 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	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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 plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in rough endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in rough endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
colocalizes_with smooth endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in smooth endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: presenilin-1

NP_001349200.1

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.

mRNA and Protein(s)

NM_001362271.1 → NP_001349200.1 presenilin-1 precursor

Status: VALIDATED

Source sequence(s)

AK134615, AK148101, BU757833, BY318326

Consensus CDS

CCDS26030.1

UniProtKB/Swiss-Prot

P49769, Q91WK6, Q9JLP9

UniProtKB/TrEMBL

Q3UYK2

Related

ENSMUSP00000048363.6, ENSMUST00000041806.13

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

83734926..83781869

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_008943.2: Suppressed sequence

Description

NM_008943.2: This RefSeq was removed because currently there is insufficient support for the transcript.