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Psen1 presenilin 1 [ Mus musculus (house mouse) ]

Gene ID: 19164, updated on 17-Jun-2018
Official Symbol
Psen1provided by MGI
Official Full Name
presenilin 1provided by MGI
Primary source
MGI:MGI:1202717
See related
Ensembl:ENSMUSG00000019969
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
Expression
Ubiquitous expression in testis adult (RPKM 17.9), large intestine adult (RPKM 14.4) and 28 other tissues See more
Orthologs
See Psen1 in Genome Data Viewer
Location:
12 D1; 12 38.84 cM
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 12 NC_000078.6 (83688145..83738446)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (85029513..85076149)

Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene H2A histone family, member Z pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene farnesyl diphosphate synthetase pseudogene Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene NUMB endocytic adaptor protein

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
aspartic endopeptidase activity, intramembrane cleaving ISO
Inferred from Sequence Orthology
more info
 
aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-catenin binding ISO
Inferred from Sequence Orthology
more info
 
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
peptidase activity ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Cajal-Retzius cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch receptor processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell activation involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
T cell receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
activation of MAPKK activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
amyloid precursor protein metabolic process ISO
Inferred from Sequence Orthology
more info
 
amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
 
amyloid-beta metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
astrocyte activation ISO
Inferred from Sequence Orthology
more info
 
astrocyte activation involved in immune response ISO
Inferred from Sequence Orthology
more info
 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
PubMed 
cellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amyloid-beta ISO
Inferred from Sequence Orthology
more info
 
cerebral cortex cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
choline transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
dorsal/ventral neural tube patterning IGI
Inferred from Genetic Interaction
more info
PubMed 
embryonic limb morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
PubMed 
epithelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
forebrain development IGI
Inferred from Genetic Interaction
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping IGI
Inferred from Genetic Interaction
more info
PubMed 
hematopoietic progenitor cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
learning or memory ISO
Inferred from Sequence Orthology
more info
 
locomotion IGI
Inferred from Genetic Interaction
more info
PubMed 
long-term synaptic potentiation TAS
Traceable Author Statement
more info
PubMed 
membrane protein ectodomain proteolysis ISO
Inferred from Sequence Orthology
more info
 
memory IGI
Inferred from Genetic Interaction
more info
PubMed 
memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
memory ISO
Inferred from Sequence Orthology
more info
 
memory TAS
Traceable Author Statement
more info
PubMed 
mitochondrial transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
modulation of age-related behavioral decline ISO
Inferred from Sequence Orthology
more info
 
myeloid dendritic cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
myeloid leukocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
negative regulation of apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of core promoter binding ISO
Inferred from Sequence Orthology
more info
 
negative regulation of epidermal growth factor-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
negative regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
neuron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection maintenance ISO
Inferred from Sequence Orthology
more info
 
positive regulation of L-glutamate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAP kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of amyloid fibril formation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of dendritic spine development ISO
Inferred from Sequence Orthology
more info
 
positive regulation of phosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein binding ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein import into nucleus, translocation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein processing ISO
Inferred from Sequence Orthology
more info
 
protein transport IGI
Inferred from Genetic Interaction
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of epidermal growth factor-activated receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of phosphorylation ISO
Inferred from Sequence Orthology
more info
 
regulation of protein binding IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of resting membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of synaptic plasticity IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of synaptic transmission, glutamatergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to oxidative stress IGI
Inferred from Genetic Interaction
more info
PubMed 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
segmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
smooth endoplasmic reticulum calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smooth endoplasmic reticulum calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
somitogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
somitogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
synapse organization ISO
Inferred from Sequence Orthology
more info
 
synaptic vesicle targeting IMP
Inferred from Mutant Phenotype
more info
PubMed 
thymus development IGI
Inferred from Genetic Interaction
more info
PubMed 
thymus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
aggresome ISO
Inferred from Sequence Orthology
more info
 
axon IDA
Inferred from Direct Assay
more info
PubMed 
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction ISO
Inferred from Sequence Orthology
more info
 
cell surface ISO
Inferred from Sequence Orthology
more info
 
centrosome ISO
Inferred from Sequence Orthology
more info
 
ciliary rootlet IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
dendritic shaft IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
gamma-secretase complex ISO
Inferred from Sequence Orthology
more info
 
growth cone IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane ISO
Inferred from Sequence Orthology
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
kinetochore ISO
Inferred from Sequence Orthology
more info
 
lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft ISO
Inferred from Sequence Orthology
more info
 
membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
 
mitochondrion ISO
Inferred from Sequence Orthology
more info
 
neuromuscular junction ISO
Inferred from Sequence Orthology
more info
 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
nuclear outer membrane ISO
Inferred from Sequence Orthology
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
rough endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
smooth endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with smooth endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 

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
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin; Presenilin

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000078.6 Reference GRCm38.p4 C57BL/6J

    Range
    83688145..83738446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515605.3XP_006515668.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    P49769
    UniProtKB/TrEMBL
    Q3UYK2
    Related
    ENSMUSP00000048363.5, ENSMUST00000041806.12
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin; Presenilin

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.
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