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Description for Protein PSEN1

presenilin 1
61 total interacting proteins; 35 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
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] (PubMed Links)
Domains and Motifs:
  • PSN: Presenilin, signal peptide peptidase, family
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.23.-
    KEGG - Orthology:
    K04505
    KEGG - Pathway(s):
    hsa04310; hsa04330; hsa04722; hsa05010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PS1; S182; PSNL1; AD3; FAD; Protein S182; Presenilin 1 isoform I-467
    Approved Symbol:
    PSEN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 27
    Human (de-) phosphorylation sites: 27; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Alzheimer disease, familial, 3(Pd);
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia(Pd);
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques(Pd);
  • Alzheimer disease, familial, 3, with unusual plaques(Pd);
  • Alzheimer disease, familial, with spastic paraparesis and unusual plaques(Pd);
  • Cardiomyopathy, dilated, 1U(Pd);
  • Dementia, frontotemporal(Pd);
  • Pick disease of brain(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 6
  • Isoform 2 : 9
  • Isoform 1 : 9
    • Additional Identifiers:

    HPRD: 00087 Entrez Gene ID: 5663 OMIM ID: 104311 Swissprot Accession: P49768;