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    Psen1 presenilin 1 [ Mus musculus (house mouse) ]

    Gene ID: 19164, updated on 25-May-2017
    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
    PROVISIONAL
    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
    Orthologs
    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 homolog (Drosophila)

    • 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?

    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
     
    beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 
    L-glutamate transport 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 
    anagen IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    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 
    calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate specification IGI
    Inferred from Genetic Interaction
    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 
    embryo development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    embryo development IMP
    Inferred from Mutant Phenotype
    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 
    locomotion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    long-term synaptic potentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    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 
    positive regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    single organismal cell-cell adhesion ISO
    Inferred from Sequence Orthology
    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 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 
    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
     
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 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
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein 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
     
    Preferred Names
    presenilin-1
    NP_032969.1
    XP_006515668.1

    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_008943.2NP_032969.1  presenilin-1

      See identical proteins and their annotated locations for NP_032969.1

      Status: PROVISIONAL

      Source sequence(s)
      AC055772, AC132954
      Consensus CDS
      CCDS26030.1
      UniProtKB/Swiss-Prot
      P49769
      UniProtKB/TrEMBL
      Q3UYK2
      Related
      ENSMUSP00000098786.1, ENSMUST00000101225.1
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    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

      See identical proteins and their annotated locations for XP_006515668.1

      UniProtKB/Swiss-Prot
      P49769
      UniProtKB/TrEMBL
      Q3UYK2
      Related
      ENSMUSP00000048363.5, ENSMUST00000041806.11
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin
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