PSEN1 presenilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSEN1provided by HGNC
Official Full Name: presenilin 1provided by HGNC
Primary source: HGNC:HGNC:9508
See related: Ensembl:ENSG00000080815 MIM:104311
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; 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

Genomic context

Location:: 14q24.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	14	NC_000014.9 (73136435..73223691)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (73603143..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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Report confirmed that PSEN1 Thr116Ile mutation was causative of an autosomal dominant early onset Alzheimer's disease. In silico predictions were performed to estimate the possible role of mutation, and confirmed that it could disturb the HL-I loop, resulting in significant possible disturbances in secretase functions.
Title: <i>PSEN1</i> p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
Data indicate a novel role for PS1 in regulating TREM2 intracellular trafficking and pathophysiological function.
Title: Intracellular trafficking of TREM2 is regulated by presenilin 1.
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding presenilin 1.
Title: Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
We describe here the generation of functional astrocytes from induced pluripotent stem cells (iPSCs) derived from AD patients with PSEN1 DeltaE9 mutation, as well as healthy and gene-corrected isogenic controls.
Title: PSEN1 Mutant iPSC-Derived Model Reveals Severe Astrocyte Pathology in Alzheimer's Disease.
The data of this study suggest a deficiency of PE and LPC levels in the temporal cortex from Alzheimer's Disease-PSEN1(E280A) and Sporadic Alzheimer's Disease brains with respect to healthy brains.
Title: Differential Pattern of Phospholipid Profile in the Temporal Cortex from E280A-Familiar and Sporadic Alzheimer's Disease Brains.
3 distinct conformations of gamma-secretase (open, semiopen, and closed) differ by tilting of helices 2 and 3 of PS1, directly controlling active site availability. The semiopen conformation shows the best fit of Abeta peptides, i.e., longer residence before release and by inference more trimming. The closed, hydrophobic conformation is largely inactive and the open conformation is active but provides less optimal inte...
Title: Membrane Dynamics of γ-Secretase Provides a Molecular Basis for β-Amyloid Binding and Processing.
Dominant negative effect of the loss-of-function gamma-secretase mutants on the wild-type enzyme through heterooligomerization has been demonstrated.
Title: Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.
phosphorylation of PS1 at Ser367 does not affect gamma-secretase activity, but has a dramatic effect on Abeta levels in vivo
Title: Bidirectional regulation of Aβ levels by Presenilin 1.
This study demonstrated that the Precuneus cortex brain wave in PSEN1 E280A Family at Risk of Developing Alzheimer's disease.
Title: Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography.
The results show that in cognitively normal young adults carrying presenilin-1mutations had different spontaneous brain activity patterns without cerebral structural differences.
Title: Altered spontaneous brain activity pattern in cognitively normal young adults carrying mutations of APP, presenilin-1/2 and APOE ε4.

Submit: New GeneRIF Correction See all GeneRIFs (491)

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, type 3 MedGen: C1843013 OMIM: 607822 GeneReviews: Alzheimer Disease Overview, Early-Onset Familial Alzheimer Disease	Compare labs
Cardiomyopathy, dilated, 1u MedGen: C3160720 OMIM: 613694	Compare labs
Frontotemporal dementia MedGen: C0338451 OMIM: 600274 GeneReviews: MAPT-Related Disorders	Compare labs
Pick's disease MedGen: C0236642 OMIM: 172700 GeneReviews: MAPT-Related Disorders	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193	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)

Pathways from BioSystems

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Alzheimer's disease, organism-specific biosystem (from KEGG)
Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimer's disease, conserved biosystem (from KEGG)
Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimers Disease, organism-specific biosystem (from WikiPathways)
Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
Neurotrophin signaling pathway, conserved biosystem (from KEGG)
Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
Neutrophil degranulation, organism-specific biosystem (from REACTOME)
Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
Notch signaling, organism-specific biosystem (from KEGG)
Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
Notch signaling, conserved biosystem (from KEGG)
Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
Notch signaling pathway, organism-specific biosystem (from KEGG)
Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Notch signaling pathway, conserved biosystem (from KEGG)
Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
Presenilin action in Notch and Wnt signaling, organism-specific biosystem
Presenilin action in Notch and Wnt signaling
Syndecan-3-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
Syndecan-3-mediated signaling events, organism-specific biosystem
Syndecan-3-mediated signaling events
Wnt signaling pathway, organism-specific biosystem (from KEGG)
Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
Wnt signaling pathway, conserved biosystem (from KEGG)
Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
p75(NTR)-mediated signaling, organism-specific biosystem
p75(NTR)-mediated signaling

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

Homology

Homologs of the PSEN1 gene: The PSEN1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 213 organisms have orthologs with human gene PSEN1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
aspartic endopeptidase activity, intramembrane cleaving	IDA Inferred from Direct Assay more info	PubMed
aspartic endopeptidase activity, intramembrane cleaving	IMP Inferred from Mutant Phenotype more info	PubMed
aspartic-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
aspartic-type endopeptidase activity	TAS Traceable Author Statement more info
beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
cadherin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Cajal-Retzius cell differentiation	IEA Inferred from Electronic Annotation more info
Notch receptor processing	TAS Traceable Author Statement more info	PubMed
Notch receptor processing, ligand-dependent	TAS Traceable Author Statement more info
T cell activation involved in immune response	IEA Inferred from Electronic Annotation more info
T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
activation of MAPKK activity	IEA Inferred from Electronic Annotation more info
amyloid precursor protein catabolic process	TAS Traceable Author Statement more info	PubMed
amyloid precursor protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
astrocyte activation	IGI Inferred from Genetic Interaction more info	PubMed
astrocyte activation involved in immune response	IGI Inferred from Genetic Interaction more info	PubMed
autophagosome assembly	IEA Inferred from Electronic Annotation more info
blood vessel development	IEA Inferred from Electronic Annotation more info
brain morphogenesis	IEA Inferred from Electronic Annotation more info
calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
cell fate specification	IEA Inferred from Electronic Annotation more info
cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to DNA damage stimulus	IEA Inferred from Electronic Annotation more info
cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
cerebellum development	IEA Inferred from Electronic Annotation more info
cerebral cortex cell migration	IEA Inferred from Electronic Annotation more info
choline transport	IEA Inferred from Electronic Annotation more info
dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
endoplasmic reticulum calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
heart looping	IEA Inferred from Electronic Annotation more info
hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
intracellular signal transduction	IEA Inferred from Electronic Annotation more info
learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
learning or memory	TAS Traceable Author Statement more info	PubMed
membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
memory	IGI Inferred from Genetic Interaction more info	PubMed
mitochondrial transport	IEA Inferred from Electronic Annotation more info
modulation of age-related behavioral decline	IGI Inferred from Genetic Interaction more info	PubMed
modulation of age-related behavioral decline	TAS Traceable Author Statement more info	PubMed
myeloid dendritic cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
negative regulation of core promoter binding	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of epidermal growth factor-activated receptor activity	IEA Inferred from Electronic Annotation more info
NOT negative regulation of low-density lipoprotein receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info
neural retina development	IEA Inferred from Electronic Annotation more info
neuron apoptotic process	IEA Inferred from Electronic Annotation more info
neuron development	IEA Inferred from Electronic Annotation more info
neuron migration	IEA Inferred from Electronic Annotation more info
neuron projection maintenance	IGI Inferred from Genetic Interaction more info	PubMed
neutrophil degranulation	TAS Traceable Author Statement more info
positive regulation of L-glutamate import across plasma membrane	IEA Inferred from Electronic Annotation more info
positive regulation of amyloid fibril formation	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of coagulation	IEA Inferred from Electronic Annotation more info
positive regulation of dendritic spine development	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
post-embryonic development	IEA Inferred from Electronic Annotation more info
protein glycosylation	IEA Inferred from Electronic Annotation more info
protein processing	IDA Inferred from Direct Assay more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info
regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of resting membrane potential	IEA Inferred from Electronic Annotation more info
regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
response to oxidative stress	IEA Inferred from Electronic Annotation more info
skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
skin morphogenesis	IEA Inferred from Electronic Annotation more info
smooth endoplasmic reticulum calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
somitogenesis	IEA Inferred from Electronic Annotation more info
synapse organization	IGI Inferred from Genetic Interaction more info	PubMed
synaptic vesicle targeting	IEA Inferred from Electronic Annotation more info
thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
Golgi membrane	IEA Inferred from Electronic Annotation more info
aggresome	IDA Inferred from Direct Assay more info	PubMed
azurophil granule membrane	TAS Traceable Author Statement more info
cell cortex	IEA Inferred from Electronic Annotation more info
cell junction	IDA Inferred from Direct Assay more info
cell surface	IEA Inferred from Electronic Annotation more info
centrosome	IDA Inferred from Direct Assay more info	PubMed
ciliary rootlet	IEA Inferred from Electronic Annotation more info
dendritic shaft	IEA Inferred from Electronic Annotation more info
early endosome	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
growth cone	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	TAS Traceable Author Statement more info	PubMed
integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
kinetochore	IDA Inferred from Direct Assay more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
membrane raft	IDA Inferred from Direct Assay more info	PubMed
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
neuromuscular junction	IEA Inferred from Electronic Annotation more info
neuron projection	IDA Inferred from Direct Assay more info	PubMed
neuronal cell body	IEA Inferred from Electronic Annotation more info
nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info
nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
sarcolemma	IEA Inferred from Electronic Annotation more info
smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: presenilin-1

Names: presenilin-1 isoform I-467

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.-

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

4965..92221

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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

P49768

UniProtKB/TrEMBL

A0A024R6A3

Related

ENSP00000326366.5, ENST00000324501.9

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin; Presenilin
NM_007318.2 → 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/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A0S2Z4D2

Related

ENSP00000350342.4, ENST00000357710.8

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p12 Primary Assembly

Range

73136435..73223691

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267866.2 → XP_005267923.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_005267923.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A0S2Z4D2

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin
XM_005267864.3 → XP_005267921.1 presenilin-1 isoform X1

See identical proteins and their annotated locations for XP_005267921.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A024R6A3

Related

ENSP00000451429.1, ENST00000557511.5

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin; Presenilin
XM_011536972.2 → XP_011535274.1 presenilin-1 isoform X1

See identical proteins and their annotated locations for XP_011535274.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A024R6A3

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin; Presenilin
XM_011536973.2 → XP_011535275.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_011535275.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A0S2Z4D2

Related

ENSP00000377719.1, ENST00000394164.5

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin
XM_011536974.2 → XP_011535276.1 presenilin-1 isoform X2

See identical proteins and their annotated locations for XP_011535276.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A0S2Z4D2

Related

ENSP00000385948.1, ENST00000406768.1

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin

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.