ZFIN ID: ZDB-GENE-991119-4
Gene Name: presenilin 1
Gene Symbol: psen1
Sequence Ontology ID : SO:0000704

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Previous Names: pre1 (1), zf-PS1 (1), zfPS1 (1)

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(Including Attributions)
Location: Chr: 17 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION
All Expression Data: 16 figures from 10 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [MGC:64206]
  4 figures (12 images) from Rauch et al., 2003 [fq37g09]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hu2547 Point Mutation Exon 5 Premature Stop ENU
hu2548 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la010654Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa30700 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43013 Point Mutation Unknown Splice Site ENU
    Targeting reagents:
    PHENOTYPE
    Data: 20 figures from 6 publications
    Observed in:
    DISEASE ASSOCIATED WITH psen1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Alzheimer's disease 3 Alzheimer disease, type 3 607822
    Alzheimer disease, type 3, with spastic paraparesis and apraxia 607822
    Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 607822
    dilated cardiomyopathy 1U Cardiomyopathy, dilated, 1U 613694
    frontotemporal dementia Dementia, frontotemporal 600274
    hidradenitis suppurativa ?Acne inversa, familial, 3 613737
    Pick's disease Pick disease 172700
    DISEASE ASSOCIATED WITH psen1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process amyloid-beta formation (more)
    Cellular Component intrinsic component of membrane (more)
    Molecular Function aspartic endopeptidase activity, intramembrane cleaving (more)
    GO Terms (all 55)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001108 (1)
  • InterPro:IPR006639 (1)
  • Pfam:PF01080 (1)
  • EC:3.4.23.- (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA psen1-001 (1) 2417
    psen1-002 (1) 589
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM psen1 No data available
    MARKER RELATIONSHIPS
    psen1Contained in: [Fosmid] CH1073-137O9 (1) (order this), CH1073-469D17 (1) (order this)
    psen1Encodes: [EST] fq37g09 (1) (order this)
    [cDNA] MGC:64206 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131024 (1) 2373bp
    Genomic GenBank:CU694267 (1) 36040bp
    Select Tool
    Polypeptide UniProtKB:F1Q8Y6 (1) 456aa
    Sequence Clusters UniGene:75852 (1)
    Sequence Information (all 24)
    OTHER psen1 GENE PAGES
  • Alliance (1)
  • Gene:30221 (1)
  • VEGA:OTTDARG00000034970 (1)
  • Ensembl(GRCz11):ENSDARG00000004870 (2)
  • ORTHOLOGY for psen1 (Chr: 17)
    CITATIONS (61)