ZFIN is now using GRCz12tu for Genomic Data
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
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Predicted to enable aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within several processes, including amyloid-beta formation; cell surface receptor signaling pathway; and optomotor response. Located in membrane. Is expressed in blastomere; brain; female organism; heart; and male organism. Used to study Alzheimer's disease; Alzheimer's disease 3; and hidradenitis suppurativa. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); 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's disease 3 Alliance Alzheimer disease, type 3, with or without spastic paraparesis 607822
dilated cardiomyopathy 1U Alliance ?Cardiomyopathy, dilated, 1U 613694
frontotemporal dementia 1 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
Human Disease Fish Conditions Citations
Alzheimer's disease 3 psen1uaa9/+ standard conditions Newman et al., 2019
Alzheimer's disease psen1uaa15/+ (TU) standard conditions Barthelson et al., 2021
Alzheimer's disease psen1uaa9/+ standard conditions Dong et al., 2021
Alzheimer's disease psen1uaa10/+ standard conditions Hin et al., 2020
hidradenitis suppurativa psen1uaa14/+ (TU) standard conditions Barthelson et al., 2021
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 Additional Resources Length Peptidase A22A, presenilin Presenilin, C-terminal Presenilin/signal peptide peptidase
UniProtKB:Q9W6T7 InterPro 456
UniProtKB:F8W381 InterPro 455
UniProtKB:F1Q8Y6 InterPro 456
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA psen1-201 (1)
Ensembl
Ensembl 2,417 nt
ZFIN BLAST
mRNA psen1-202 (1)
Ensembl
Ensembl 589 nt
ZFIN BLAST
mRNA psen1-203 (1)
Ensembl
Ensembl 2,350 nt
ZFIN BLAST
mRNA psen1-204 (1)
Ensembl
Ensembl 1,864 nt
ZFIN BLAST
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
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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