psen1 presenilin 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: psen1provided by ZNC
Official Full Name: presenilin 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-991119-4
See related: Ensembl:ENSDARG00000004870 AllianceGenome:ZFIN:ZDB-GENE-991119-4
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: pre1; psen; zfPS1; zf-PS1
Summary: Predicted to enable aspartic endopeptidase activity, intramembrane cleaving; beta-catenin binding activity; and cadherin binding activity. Acts upstream of or within several processes, including amyloid-beta formation; cell surface receptor signaling pathway; and optomotor response. Is intrinsic component of membrane. Is expressed in blastomere; brain; female organism; heart; and male organism. Used to study Alzheimer's disease and 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 17

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (51206225..51223769, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (51117188..51134760, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL3-dependent m[6]A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/beta-catenin signaling pathway.
Title: METTL3-dependent m(6)A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway.
No observed effect on brain vasculature of Alzheimer's disease-related mutations in the zebrafish presenilin 1 gene.
Title: No observed effect on brain vasculature of Alzheimer's disease-related mutations in the zebrafish presenilin 1 gene.
Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.
Title: Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.
brains from zebrafish heterozygous for a single, early onset of familial Alzheimer's disease-like mutation in their PSEN1-orthologous gene, psen1, were analyzed.
Title: Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production.
Presenilin-1 targeted morpholino induces cognitive deficits, increased brain Abeta1-42 and decreased synaptic marker PSD-95
Title: Presenilin-1 Targeted Morpholino Induces Cognitive Deficits, Increased Brain Aβ(1-42) and Decreased Synaptic Marker PSD-95 in Zebrafish Larvae.
Using an antisense morpholino oligonucleotide, study blocked induction of PS1IV isoform that normally occurs under hypoxia,identified gene regulatory networks that are modulated by PS1IV: observed changes in expression of genes controlling inflammation, vascular development, the UPR, protein synthesis, calcium homeostasis, catecholamine biosynthesis, TOR signaling, and cell proliferation
Title: The Zebrafish Equivalent of Alzheimer's Disease-Associated PRESENILIN Isoform PS2V Regulates Inflammatory and Other Responses to Hypoxic Stress.
Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence.
Title: Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activity.
We identified psen1 as a regulator of the development of histaminergic neurons in zebrafish
Title: Presenilin1 regulates histamine neuron development and behavior in zebrafish, danio rerio.
We now demonstrate that zebrafish embryos maintain relatively stable levels of normal Presenilin1 transcript and protein despite accumulating large amounts of aberrantly spliced presenilin1 transcript.
Title: Robust homeostasis of Presenilin1 protein levels by transcript regulation.
These results suggest that Psen2 plays a more prominent role in Notch signalling and embryo development in zebrafish than in mammals, and that the effect of reduced Psen2 can be ameliorated by Psen1 loss.
Title: Independent and cooperative action of Psen2 with Psen1 in zebrafish embryos.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info
enables aspartic endopeptidase activity, intramembrane cleaving	ISS Inferred from Sequence or Structural Similarity more info
enables aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within optomotor response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein processing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: presenilin-1

Names: PS-1

NP_571099.1

EC 3.4.23.-

XP_005169939.1

EC 3.4.23.-

XP_005169940.1

EC 3.4.23.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.