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. Involved in several processes, including amyloid-beta formation; cell surface receptor signaling pathway; and optomotor response. Localizes to intrinsic component of membrane. 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. Is expressed in blastomere; brain; female organism; heart; and male organism. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:64206 (1 image)

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	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	psen1^uaa9/+	standard conditions	Newman et al., 2019
Alzheimer's disease	psen1^uaa15/+ (TU)	standard conditions	Barthelson et al., 2021
Alzheimer's disease	psen1^uaa9/+	standard conditions	Dong et al., 2021
Alzheimer's disease	psen1^uaa10/+	standard conditions	Hin et al., 2020
hidradenitis suppurativa	psen1^uaa14/+ (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	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	Length (nt)	Analysis
mRNA	psen1-201 (1) Ensembl	Ensembl	2,417 nt	Select Tool ZFIN BLAST
mRNA	psen1-202 (1) Ensembl	Ensembl	589 nt	Select Tool ZFIN BLAST
mRNA	psen1-203 (1) Ensembl	Ensembl	2,350 nt	Select Tool ZFIN BLAST
mRNA	psen1-204 (1) Ensembl	Ensembl	1,864 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-psen1	polyclonal	psen1		Sheep			1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations