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PSEN1 presenilin 1 [ Homo sapiens (human) ]

Gene ID: 5663, updated on 9-Sep-2025

Summary

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Official Symbol: PSEN1provided by HGNC
Official Full Name: presenilin 1provided by HGNC
Primary source: HGNC:HGNC:9508
See related: Ensembl:ENSG00000080815 MIM:104311; AllianceGenome:HGNC:9508
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AD3; FAD; PS1; PS-1; S182; CMD1U; PSNL1; ACNINV3
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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See PSEN1 in Genome Data Viewer

Location:: 14q24.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (73136417..73223691)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (67341963..67429152)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (73603215..73690399)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.
Title: Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.
Presenilin deficiency enhances tau phosphorylation and its secretion.
Title: Presenilin deficiency enhances tau phosphorylation and its secretion.
A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
Title: A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.
Title: APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.
The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Abeta43 and atypical clinical manifestations.
Title: The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Presenilin-1 DeltaE9 mutation associated sarcoplasmic reticulum leak alters [Ca[2+]]i distribution in human iPSC-derived cardiomyocytes.
Title: Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes.
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Title: Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Title: Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.
Title: Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.
Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.
Title: Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.

Submit: New GeneRIF Correction See all GeneRIFs (622)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acne inversa, familial, 3 MedGen: C3151038 OMIM: 613737 GeneReviews: Not available	Compare labs
Alzheimer disease 3 MedGen: C1843013 OMIM: 607822 GeneReviews: Alzheimer Disease Overview	Compare labs
Dilated cardiomyopathy 1U MedGen: C3160720 OMIM: 613694 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Frontotemporal dementia MedGen: C0338451 OMIM: 600274 GeneReviews: Not available	Compare labs
Pick disease MedGen: C0236642 OMIM: 172700 GeneReviews: Not available	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1264 (e-PCR)
- UniSTS:154642

G38182 (e-PCR)
- UniSTS:61209

SHGC-132632 (e-PCR)
- UniSTS:185371

G38198 (e-PCR)
- UniSTS:37423

WI-11404 (e-PCR)
- UniSTS:44594

RH77790 (e-PCR)
- UniSTS:58424

D14S43 (e-PCR), detects polymorphism
- UniSTS:72766

SGC34362 (e-PCR)
- UniSTS:58943

G38133 (e-PCR)
- UniSTS:57156

G35565 (e-PCR)
- UniSTS:25416

G38272 (e-PCR)
- UniSTS:61768

G38175 (e-PCR)
- UniSTS:73545

G38218 (e-PCR)
- UniSTS:5967

SHGC-78932 (e-PCR)
- UniSTS:95823

G35501 (e-PCR)
- UniSTS:42580

G38323 (e-PCR)
- UniSTS:59480

G38215 (e-PCR)
- UniSTS:77408

G38068 (e-PCR)
- UniSTS:79456

G35665 (e-PCR)
- UniSTS:38760

PSEN1_232 (e-PCR)
- UniSTS:277618

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-31609 (e-PCR)
- UniSTS:35446

G38324 (e-PCR)
- UniSTS:42359

G38176 (e-PCR)
- UniSTS:48247

D14S1438 (e-PCR)
- UniSTS:153981

D14S1439 (e-PCR)
- UniSTS:153982

D14S1440 (e-PCR)
- UniSTS:153983

D14S1442 (e-PCR)
- UniSTS:153985

G38129 (e-PCR)
- UniSTS:41366

A005E05 (e-PCR)
- UniSTS:57512

G38136 (e-PCR)
- UniSTS:3507

SHGC-36769 (e-PCR)
- UniSTS:18869

G38220 (e-PCR)
- UniSTS:9152

G38203 (e-PCR)
- UniSTS:67017

G38066 (e-PCR)
- UniSTS:11726

G38184 (e-PCR)
- UniSTS:65743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic endopeptidase activity, intramembrane cleaving	IDA Inferred from Direct Assay more info	PubMed
contributes_to aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info
enables aspartic endopeptidase activity, intramembrane cleaving	IMP Inferred from Mutant Phenotype more info	PubMed
enables aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables aspartic-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Cajal-Retzius cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect L-glutamate import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in Notch receptor processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within Notch receptor processing	IEA Inferred from Electronic Annotation more info
involved_in Notch receptor processing	IEA Inferred from Electronic Annotation more info
involved_in Notch receptor processing	TAS Traceable Author Statement more info	PubMed
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within T cell activation involved in immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid precursor protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid precursor protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in amyloid precursor protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within amyloid-beta formation	IEA Inferred from Electronic Annotation more info
involved_in amyloid-beta formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amyloid-beta metabolic process	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in astrocyte activation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in astrocyte activation involved in immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within autophagosome assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within brain development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within brain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate specification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebral cortex cell migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebral cortex development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within choline transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endoplasmic reticulum calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within forebrain development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart looping	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within learning or memory	IEA Inferred from Electronic Annotation more info
involved_in learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within locomotion	IEA Inferred from Electronic Annotation more info
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane protein ectodomain proteolysis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within memory	IEA Inferred from Electronic Annotation more info
involved_in memory	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrial transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myeloid dendritic cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myeloid leukocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of core promoter binding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in neural retina development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neurogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neuron projection maintenance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of L-glutamate import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of amyloid fibril formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of coagulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendritic spine development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of glycolytic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process at postsynapse	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein maturation	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of resting membrane potential	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to oxidative stress	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within segmentation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect sequestering of calcium ion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in skin morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within smooth endoplasmic reticulum calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within synaptic vesicle targeting	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in aggresome	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome	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	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-secretase complex	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IGI Inferred from Genetic Interaction more info	PubMed
is_active_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation 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	TAS Traceable Author Statement more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
colocalizes_with smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: presenilin-1

Names: familial Alzheimer Disease

NP_000012.1

EC 3.4.23.-

NP_015557.2

EC 3.4.23.-

XP_005267921.1

EC 3.4.23.-

XP_005267923.1

EC 3.4.23.-

XP_011535274.1

EC 3.4.23.-

XP_011535275.1

EC 3.4.23.-

XP_011535276.1

EC 3.4.23.-

XP_047287556.1

EC 3.4.23.-

XP_047287557.1

EC 3.4.23.-

XP_047287558.1

EC 3.4.23.-

XP_054232388.1

EC 3.4.23.-

XP_054232389.1

EC 3.4.23.-

XP_054232390.1

EC 3.4.23.-

XP_054232391.1

EC 3.4.23.-

XP_054232392.1

EC 3.4.23.-

XP_054232393.1

EC 3.4.23.-

XP_054232394.1

EC 3.4.23.-

XP_054232395.1

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.

Genomic

NG_007386.2 RefSeqGene

Range

5037..92221

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_224

mRNA and Protein(s)

NM_000021.4 → NP_000012.1 presenilin-1 isoform I-467

See identical proteins and their annotated locations for NP_000012.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (I-467).

Source sequence(s)

AK094186, AK312531, AW069286, BC011729, DA670846, DB075605, DB203403

Consensus CDS

CCDS9812.1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6

Related

ENSP00000326366.5, ENST00000324501.10

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
NM_007318.3 → NP_015557.2 presenilin-1 isoform I-463

See identical proteins and their annotated locations for NP_015557.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternative donor splice site at one of the coding exons compared to transcript variant 1. It maintains the same reading frame, and encodes a shorter isoform (I-463) missing a 4 aa peptide compared to isoform I-467.

Source sequence(s)

AK094186, AW069286, BC011729, DA670846, DB075605, DB203403

Consensus CDS

CCDS9813.1

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Related

ENSP00000350342.4, ENST00000357710.8

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

73136417..73223691

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431602.1 → XP_047287558.1 presenilin-1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Related

ENSP00000514901.1, ENST00000700265.1
XM_047431601.1 → XP_047287557.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6

Related

ENSP00000514903.1, ENST00000700267.1
XM_047431600.1 → XP_047287556.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6

Related

ENSP00000564230.1, ENST00000894171.1
XM_011536974.3 → XP_011535276.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_011535276.1

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Related

ENSP00000564220.1, ENST00000894161.1

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin
XM_011536972.3 → XP_011535274.1 presenilin-1 isoform X1

See identical proteins and their annotated locations for XP_011535274.1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6

Related

ENSP00000514968.1, ENST00000700378.1

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
XM_011536973.3 → XP_011535275.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_011535275.1

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Related

ENSP00000377719.1, ENST00000394164.5

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin
XM_005267864.4 → XP_005267921.1 presenilin-1 isoform X1

See identical proteins and their annotated locations for XP_005267921.1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6

Related

ENSP00000514904.1, ENST00000700268.1

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
XM_005267866.3 → XP_005267923.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_005267923.1

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Related

ENSP00000450551.2, ENST00000556951.6

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

67341963..67429152

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376420.1 → XP_054232395.1 presenilin-1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8
XM_054376415.1 → XP_054232390.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
XM_054376414.1 → XP_054232389.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
XM_054376418.1 → XP_054232393.1 presenilin-1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8
XM_054376416.1 → XP_054232391.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
XM_054376419.1 → XP_054232394.1 presenilin-1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8
XM_054376413.1 → XP_054232388.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0

UniProtKB/TrEMBL

A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
XM_054376417.1 → XP_054232392.1 presenilin-1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z4D2, Q53FV8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007319.1: Suppressed sequence

Description

NM_007319.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.