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; Vega:OTTHUMG00000141279
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
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]
Orthologs: mouse all

Genomic context

See PSEN1 in Genome Data Viewer Map Viewer

Location:: 14q24.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
108	current	GRCh38.p7 (GCF_000001405.33)	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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

The N-terminal fragment of the catalytic subunit presenilin was determined as principal substrate-binding site.
Title: Substrate recruitment of γ-secretase and mechanism of clinical presenilin mutations revealed by photoaffinity mapping.
Data show that presenilin 1 (PS1)/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2 (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1 homolog B (Aph1b) gamma-secretase produced amyloid beta peptide (Abeta) with a higher Abeta42+Abeta43-to-Abeta40 (Abeta42(43)/Abeta40) ratio than the other gamma-secretases.
Title: Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.
PSEN1 mutations are associated with specific AD phenotype.
Title: Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
association of PS1 carboxyl peptide (residues 445-467, HL9) with DREAM is calcium dependent and stabilized by a cluster of three aromatic residues: F462 and F465 from PS1 and F252 from DREAM.
Title: Molecular insight of DREAM and presenilin 1 C-terminal fragment interactions.
Obstructive Sleep Apnea, and particularly Obstructive Sleep Apnea+Obesity, are associated with increased plasma levels of Alzheimer Disease biomarkers, which decline upon treatment of OSA in a representative, yet not all- encompassing subset of patients, suggesting that OSA may accelerate AD-related processes even in early childhood.
Title: Biomarkers of Alzheimer Disease in Children with Obstructive Sleep Apnea: Effect of Adenotonsillectomy.
This review reveled that Mutations in APP and PS-1 and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD
Title: Genomics of Alzheimer Disease: A Review.
Mice overexpressing the Swedish (K594M/N595L) mutation of human APP together with PS1 deleted in exon 9 were used in this study which traces age- and brain region-specific changes of glucose metabolic disorder, learning, and memory dysfunction in early Alzheimer's Disease using 18)F-labed fluorodeoxyglucose ((18)F-FDG) microPET.
Title: Age- and Brain Region-Specific Changes of Glucose Metabolic Disorder, Learning, and Memory Dysfunction in Early Alzheimer's Disease Assessed in APP/PS1 Transgenic Mice Using <sup>18</sup>F-FDG-PET.
Three early-onset Alzheimer's disease (EOAD) causative genes (APP, PSEN1, and PSEN2) were discovered in Asian countries. Most of the EOAD-associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia.[review]
Title: Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Data show that valproic acid (VPA) treatment enhanced gender-dependent learning and memory impairment in the human amyloid beta precursor protein/presenilin 1 (APP/PS1) double transgenic mice.
Title: Gender difference in valproic acid-induced neuroprotective effects on APP/PS1 double transgenic mice modeling Alzheimer's disease.
Asian familial Alzheimer's disease patients with PSEN1 mutations presented more frequently with disorientation and personality change but less frequently with atypical clinical features.[review]
Title: A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

Submit: New GeneRIF Correction See all GeneRIFs (451)

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 GeneReviews: Dilated Cardiomyopathy Overview	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 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)

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: 187 organisms have orthologs with human gene PSEN1
The Hierarchical Catalog of 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-type endopeptidase activity	NAS Non-traceable Author Statement 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
calcium channel activity	IMP Inferred from Mutant Phenotype 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
L-glutamate transport	IEA Inferred from Electronic Annotation more info
Notch receptor processing	TAS Traceable Author Statement more info	PubMed
Notch signaling pathway	IEA Inferred from Electronic Annotation 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
canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
cell fate specification	IEA Inferred from Electronic Annotation more info
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
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
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	IEA Inferred from Electronic Annotation more info
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 protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
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
neutrophil degranulation	TAS Traceable Author Statement more info
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 proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of protein import into nucleus, translocation	IMP Inferred from Mutant Phenotype 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 phosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of protein binding	IEA Inferred from Electronic Annotation more info
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
single organismal cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
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
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
Z disc	IBA Inferred from Biological aspect of Ancestor more info
aggresome	IDA Inferred from Direct Assay more info	PubMed
axon	IBA Inferred from Biological aspect of Ancestor more info
azurophil granule membrane	TAS Traceable Author Statement more info
cell cortex	IBA Inferred from Biological aspect of Ancestor more info
cell junction	IDA Inferred from Direct Assay more info
cell surface	IBA Inferred from Biological aspect of Ancestor more info
centrosome	IDA Inferred from Direct Assay more info	PubMed
ciliary rootlet	IBA Inferred from Biological aspect of Ancestor more info
dendritic shaft	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed
kinetochore	IDA Inferred from Direct Assay more info	PubMed
lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
membrane	IDA Inferred from Direct Assay more info	PubMed
membrane raft	IDA Inferred from Direct Assay more info	PubMed
mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info
nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
presynapse	IEA Inferred from Electronic Annotation more info
protein complex	IMP Inferred from Mutant Phenotype more info	PubMed
rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

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_011535273.1

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_000021.3 → 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, OTTHUMP00000180587, ENST00000324501.9, OTTHUMT00000280500

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, OTTHUMP00000180588, ENST00000357710.8, OTTHUMT00000280501

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p7 Primary Assembly

Range

73136435..73223691

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267866.1 → 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_005267864.2 → 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

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin; Presenilin
XM_011536973.1 → 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, OTTHUMP00000180589, ENST00000394164.5, OTTHUMT00000280502

Conserved Domains (1) summary

pfam01080
Location:72 → 453

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_011536974.1 → 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

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin
XM_011536971.2 → XP_011535273.1 presenilin-1 isoform X1

See identical proteins and their annotated locations for XP_011535273.1

UniProtKB/Swiss-Prot

P49768

UniProtKB/TrEMBL

A0A024R6A3

Related

ENSP00000385948.1, OTTHUMP00000180591, ENST00000406768.1, OTTHUMT00000280504

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin; Presenilin

Alternate CHM1_1.1

Genomic

NC_018925.2 Alternate CHM1_1.1

Range

73542049..73629540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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.