Gene

psen1

ID
ZDB-GENE-991119-4
Name
presenilin 1
Symbol
psen1 Nomenclature History
Previous Names
  • pre1 (1)
  • zf-PS1 (1)
  • zfPS1 (1)
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have aspartic endopeptidase activity, intramembrane cleaving; beta-catenin binding activity; and cadherin binding activity. Involved in several processes, including amyloid-beta formation; cell surface receptor signaling pathway; and optomotor response. Localizes to intrinsic component of membrane. Is expressed in blastomere; brain; female organism; heart; and male organism. Used to study Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); Pick's disease; dilated cardiomyopathy 1U; frontotemporal dementia; and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1).
Genome Resources
Note
None
Expression
All Expression Data
17 figures from 11 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With psen1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Alzheimer's disease 3 Alliance Alzheimer disease, type 3 607822
Alzheimer's disease 3 Alliance Alzheimer disease, type 3, with spastic paraparesis and apraxia 607822
Alzheimer's disease 3 Alliance Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 607822
dilated cardiomyopathy 1U Alliance Cardiomyopathy, dilated, 1U 613694
frontotemporal dementia Alliance Dementia, frontotemporal 600274
hidradenitis suppurativa Alliance ?Acne inversa, familial, 3 613737
Pick's disease Alliance Pick disease 172700
Associated With psen1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR001108 Peptidase A22A, presenilin
Family IPR006639 Presenilin/signal peptide peptidase
Homologous_superfamily IPR042524 Presenilin, C-terminal
Domain Details Per Protein
Protein Length Peptidase A22A, presenilin Presenilin, C-terminal Presenilin/signal peptide peptidase
UniProtKB:F8W381 455
UniProtKB:Q07DQ6 113
UniProtKB:F1Q8Y6 456
UniProtKB:Q9W6T7 456
UniProtKB:F8W2T3 50
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-psen1 polyclonal Sheep
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations