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Psen1 presenilin 1 [ Mus musculus (house mouse) ]

Gene ID: 19164, updated on 18-Apr-2024

Summary

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; regulation of cellular protein metabolic process; and skin morphogenesis. 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 animal organ development; 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 expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); Pick's disease; dilated cardiomyopathy 1U; frontotemporal dementia; and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 17.9), large intestine adult (RPKM 14.4) and 28 other tissues See more
Orthologs
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Genomic context

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_000078.7Genomic Context describing neighboring genes Neighboring gene zinc finger, FYVE domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_32714 Neighboring gene STARR-seq mESC enhancer starr_32715 Neighboring gene H2A histone family, member Z pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene STARR-positive B cell enhancer ABC_E7159 Neighboring gene STARR-positive B cell enhancer ABC_E3061 Neighboring gene farnesyl diphosphate synthetase pseudogene Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene NUMB endocytic adaptor protein

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 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-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 ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
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-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
 
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_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 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
 
acts_upstream_of_or_within cell adhesion 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 ISO
Inferred from Sequence Orthology
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
 
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
 
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 ISO
Inferred from Sequence Orthology
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 
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 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 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 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 
involved_in positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
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 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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
 
acts_upstream_of_or_within protein transport IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
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 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 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 aggresome ISO
Inferred from Sequence Orthology
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 projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
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 
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 endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endosome 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
 
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 ISO
Inferred from Sequence Orthology
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 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 ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion ISO
Inferred from Sequence Orthology
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 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 TAS
Traceable Author Statement
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 ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma ISO
Inferred from Sequence Orthology
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 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001362271.1NP_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:76457
    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

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    83734926..83781869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_008943.2: Suppressed sequence

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