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
Comparative Information
Expression
All Expression Data
22 figures from 15 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
23 figures from 9 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 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
Cardiomyopathy, dilated, 1U 613694
Dementia, frontotemporal 600274
Pick disease 172700
?Acne inversa, familial, 3 613737
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:Q9W6T7 456
UniProtKB:F8W381 455
UniProtKB:F1Q8Y6 456
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations