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    PSEN1 presenilin 1 [ Homo sapiens (human) ]

    Gene ID: 5663, updated on 6-Dec-2016
    Official Symbol
    PSEN1provided by HGNC
    Official Full Name
    presenilin 1provided by HGNC
    Primary source
    HGNC:HGNC:9508
    See related
    Ensembl:ENSG00000080815 MIM:104311; Vega:OTTHUMG00000141279
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD3; FAD; PS1; PS-1; S182
    Summary
    Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
    Orthologs
    Location:
    14q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (73136435..73223691)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73603143..73690399)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370560 Neighboring gene RNA, 7SL, cytoplasmic 586, pseudogene Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene uncharacterized LOC101928123 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene papilin, proteoglycan like sulfated glycoprotein

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
      Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
    • Notch signaling, organism-specific biosystem (from KEGG)
      Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling, conserved biosystem (from KEGG)
      Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
      Presenilin action in Notch and Wnt signaling
    • Syndecan-3-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-3-mediated signaling events, organism-specific biosystem
      Syndecan-3-mediated signaling events
    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      p75(NTR)-mediated signaling, organism-specific biosystem
      p75(NTR)-mediated signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    aspartic-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Cajal-Retzius cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    L-glutamate transport IEA
    Inferred from Electronic Annotation
    more info
     
    Notch receptor processing TAS
    Traceable Author Statement
    more info
    PubMed 
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    T cell activation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    activation of MAPKK activity IEA
    Inferred from Electronic Annotation
    more info
     
    amyloid precursor protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    autophagosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    beta-amyloid formation IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    choline transport IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum calcium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial transport IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of epidermal growth factor-activated receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    neural retina development IEA
    Inferred from Electronic Annotation
    more info
     
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of MAP kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of receptor recycling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of resting membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    single organismal cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    skin morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    smooth endoplasmic reticulum calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle targeting IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    aggresome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary rootlet IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-secretase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    rough endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    presenilin-1
    NP_000012.1
    NP_015557.2

    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.

    Genomic

    1. NG_007386.2 RefSeqGene

      Range
      4965..92221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000021.3NP_000012.1  presenilin-1 isoform I-467

      See identical proteins and their annotated locations for NP_000012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (I-467).
      Source sequence(s)
      AK094186, AK312531, AW069286, BC011729, DA670846, DB075605, DB203403
      Consensus CDS
      CCDS9812.1
      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Related
      ENSP00000326366, OTTHUMP00000180587, ENST00000324501, OTTHUMT00000280500
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin
    2. NM_007318.2NP_015557.2  presenilin-1 isoform I-463

      See identical proteins and their annotated locations for NP_015557.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternative donor splice site at one of the coding exons compared to transcript variant 1. It maintains the same reading frame, and encodes a shorter isoform (I-463) missing a 4 aa peptide compared to isoform I-467.
      Source sequence(s)
      AK094186, AW069286, BC011729, DA670846, DB075605, DB203403
      Consensus CDS
      CCDS9813.1
      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Related
      ENSP00000350342, OTTHUMP00000180588, ENST00000357710, OTTHUMT00000280501
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin; Presenilin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      73136435..73223691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267866.1XP_005267923.1  

      See identical proteins and their annotated locations for XP_005267923.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin; Presenilin
    2. XM_005267864.2XP_005267921.1  

      See identical proteins and their annotated locations for XP_005267921.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin
    3. XM_011536973.1XP_011535275.1  

      See identical proteins and their annotated locations for XP_011535275.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Related
      ENSP00000377719, OTTHUMP00000180589, ENST00000394164, OTTHUMT00000280502
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin; Presenilin
    4. XM_011536972.2XP_011535274.1  

      See identical proteins and their annotated locations for XP_011535274.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin
    5. XM_011536974.1XP_011535276.1  

      See identical proteins and their annotated locations for XP_011535276.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin; Presenilin
    6. XM_011536971.2XP_011535273.1  

      See identical proteins and their annotated locations for XP_011535273.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Related
      ENSP00000385948, OTTHUMP00000180591, ENST00000406768, OTTHUMT00000280504
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin; Presenilin

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      73542049..73629540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_007319.1: Suppressed sequence

      Description
      NM_007319.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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