PSEN1 Gene

Name	presenilin 1
Description	Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPresenilin‐1 (PSEN1) is a critical component of the γ‐secretase complex that mediates the intramembranous proteolysis of several key type‐I transmembrane proteins. In the processing of the amyloid precursor protein (APP), PSEN1‐dependent cleavage generates amyloid‐β peptides – with familial Alzheimer’s disease (FAD)–linked mutations shifting the normally balanced production toward the more amyloidogenic Aβ42 species—and in Notch receptor processing, PSEN1 activity liberates the Notch intracellular domain to regulate gene transcription. PSEN1 also undergoes an essential endoproteolytic processing step, which is coordinated through its association with cofactors such as nicastrin, APH‐1, and PEN‐2, and has been extended to additional substrates such as N‐cadherin, where cleavage produces intracellular fragments that further modulate downstream transcriptional events."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its proteolytic role, PSEN1 also influences several non‐proteolytic cellular functions essential for neuronal health. Acting as a scaffold protein, PSEN1 facilitates β‐catenin phosphorylation and modulates Wnt signaling, while simultaneously governing autophagy by ensuring proper lysosomal acidification through targeting of the v‐ATPase V0a1 subunit. PSEN1 further regulates intracellular Ca²⁺ dynamics by interacting with key Ca²⁺‐handling proteins – for example, by binding to the inositol 1,4,5‐trisphosphate receptor and the sarco/endoplasmic reticulum Ca²⁺‐ATPase (SERCA) – and by functioning as an endoplasmic reticulum Ca²⁺ leak channel. In addition, modulation of glycogen synthase kinase‐3β (GSK3β) activity by PSEN1 plays a part in maintaining efficient axonal transport."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in PSEN1 have been extensively implicated in the pathogenesis of familial Alzheimer’s disease, as they lead not only to altered proteolytic events and aberrant production of amyloid‐β species but also to widespread dysfunction in Ca²⁺ homeostasis, impaired intraneuronal trafficking, and compromised cell survival signaling. These multifaceted defects have been recapitulated in both animal models and patient‐derived astrocytes harboring PSEN1 mutations—which together underscore the central contribution of PSEN1 dysfunction to Alzheimer’s pathology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "22"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David E Kang, Salvador Soriano, Xuefeng Xia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0092-8674(02)00970-4"}], "href": "https://doi.org/10.1016/s0092-8674(02"}, {"type": "t", "text": "00970-4) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12297048"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12297048"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sheu-Fen Lee, Sanjiv Shah, Hongqiao Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M208164200"}], "href": "https://doi.org/10.1074/jbc.M208164200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12297508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12297508"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Masayasu Okochi, Harald Steiner, Akio Fukumori, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presenilins mediate a dual intramembranous gamma-secretase cleavage of Notch-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/emboj/cdf541"}], "href": "https://doi.org/10.1093/emboj/cdf541"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12374741"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12374741"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wen-jie Luo, Hong Wang, Hongqiao Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.C200648200"}], "href": "https://doi.org/10.1074/jbc.C200648200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12522139"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12522139"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nobumasa Takasugi, Taisuke Tomita, Ikuo Hayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of presenilin cofactors in the gamma-secretase complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature01506"}], "href": "https://doi.org/10.1038/nature01506"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12660785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12660785"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Philippe Marambaud, Paul H Wen, Anindita Dutt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A CBP binding transcriptional repressor produced by the PS1/epsilon-cleavage of N-cadherin is inhibited by PS1 FAD mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2003.08.008"}], "href": "https://doi.org/10.1016/j.cell.2003.08.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "13678586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/13678586"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Joanna L Jankowsky, Daniel J Fadale, Jeffrey Anderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddh019"}], "href": "https://doi.org/10.1093/hmg/ddh019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14645205"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14645205"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Neetu Gupta-Rossi, Emmanuelle Six, Odile LeBail, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200310098"}], "href": "https://doi.org/10.1083/jcb.200310098"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15240571"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15240571"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Gustavo Pigino, Gerardo Morfini, Alejandra Pelsman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alzheimer's presenilin 1 mutations impair kinesin-based axonal transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12805290"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12805290"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hui Zhu, Noboru Mitsuhashi, Andrew Klein, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1934"}], "href": "https://doi.org/10.1038/ng1934"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17192785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17192785"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Omar Nelson, Huiping Tu, Tianhua Lei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI30447"}], "href": "https://doi.org/10.1172/JCI30447"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17431506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17431506"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "King-Ho Cheung, Diana Shineman, Marioly Müller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuron.2008.04.015"}], "href": "https://doi.org/10.1016/j.neuron.2008.04.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18579078"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18579078"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Kim N Green, Angelo Demuro, Yama Akbari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200706171"}], "href": "https://doi.org/10.1083/jcb.200706171"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18591429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18591429"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Estela Area-Gomez, Ad J C de Groof, Istvan Boldogh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2353/ajpath.2009.090219"}], "href": "https://doi.org/10.2353/ajpath.2009.090219"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19834068"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19834068"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Ju-Hyun Lee, W Haung Yu, Asok Kumar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2010.05.008"}], "href": "https://doi.org/10.1016/j.cell.2010.05.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20541250"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20541250"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Rita J Guerreiro, Deborah R Gustafson, John Hardy "}, {"type": "b", "children": [{"type": "t", "text": "The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2010.03.025"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2010.03.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20594621"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20594621"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "William E Klunk, Julie C Price, Chester A Mathis, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41591-019-0611-3"}], "href": "https://doi.org/10.1038/s41591-019-0611-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31686034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31686034"}]}]}]}
Synonyms	ACNINV3, PS-1, PS1, S182, AD3
Proteins	PSN1_HUMAN
NCBI Gene ID	5663
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PSEN1 has 12,194 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 140 datasets.

Click the + buttons to view associations for PSEN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PSEN1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by PSEN1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PSEN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PSEN1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PSEN1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PSEN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PSEN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PSEN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving PSEN1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PSEN1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PSEN1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PSEN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PSEN1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PSEN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PSEN1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PSEN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PSEN1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PSEN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PSEN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PSEN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PSEN1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PSEN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing PSEN1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PSEN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PSEN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PSEN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PSEN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PSEN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing PSEN1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PSEN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PSEN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PSEN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PSEN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PSEN1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PSEN1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PSEN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PSEN1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PSEN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PSEN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PSEN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PSEN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.