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PSEN1 presenilin 1 [ Homo sapiens (human) ]

Gene ID: 5663, updated on 30-Jun-2015
Official Symbol
PSEN1provided by HGNC
Official Full Name
presenilin 1provided by HGNC
Primary source
HGNC:HGNC:9508
See related
Ensembl:ENSG00000080815; HPRD:00087; 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
See PSEN1 in Epigenomics, MapViewer
Location:
14q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (73136435..73223691)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73603143..73690399)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370560 Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene uncharacterized LOC101928123 Neighboring gene papilin, proteoglycan-like sulfated glycoprotein Neighboring gene numb homolog (Drosophila)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
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 
autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
beta-amyloid formation IEA
Inferred from Electronic Annotation
more info
 
beta-amyloid metabolic process IBA
Inferred from Biological aspect of Ancestor
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
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
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
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
 
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
 
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 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epidermal growth factor-activated receptor activity IEA
Inferred from Electronic Annotation
more info
 
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 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
 
positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
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 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 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
 
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 
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
 
cell cortex IBA
Inferred from Biological aspect of Ancestor
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
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IDA
Inferred from Direct Assay
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 
Preferred Names
presenilin-1
NP_000012.1
NP_015557.2

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

  1. NG_007386.2 RefSeqGene

    Range
    4965..92221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000021.3NP_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/TrEMBL
    A0A024R6A3
    UniProtKB/Swiss-Prot
    P49768
    Related
    ENSP00000326366, OTTHUMP00000180587, ENST00000324501, OTTHUMT00000280500
    Conserved Domains (1) summary
    pfam01080
    Location:73458
    Presenilin; Presenilin
  2. NM_007318.2NP_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
    Conserved Domains (1) summary
    pfam01080
    Location:69454
    Presenilin; Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    73136435..73223691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267866.1XP_005267923.1  

    See identical proteins and their annotated locations for XP_005267923.1

    UniProtKB/Swiss-Prot
    P49768
    Conserved Domains (1) summary
    pfam01080
    Location:69454
    Presenilin; Presenilin
  2. XM_005267864.1XP_005267921.1  

    See identical proteins and their annotated locations for XP_005267921.1

    UniProtKB/TrEMBL
    A0A024R6A3
    UniProtKB/Swiss-Prot
    P49768
    Conserved Domains (1) summary
    pfam01080
    Location:73458
    Presenilin; Presenilin
  3. XM_011536972.1XP_011535274.1  

    See identical proteins and their annotated locations for XP_011535274.1

    Conserved Domains (1) summary
    pfam01080
    Location:73458
    Presenilin; Presenilin
  4. XM_011536973.1XP_011535275.1  

    See identical proteins and their annotated locations for XP_011535275.1

    Conserved Domains (1) summary
    pfam01080
    Location:69454
    Presenilin; Presenilin
  5. XM_011536974.1XP_011535276.1  

    See identical proteins and their annotated locations for XP_011535276.1

    Conserved Domains (1) summary
    pfam01080
    Location:69454
    Presenilin; Presenilin
  6. XM_011536971.1XP_011535273.1  

    See identical proteins and their annotated locations for XP_011535273.1

    Conserved Domains (1) summary
    pfam01080
    Location:73458
    Presenilin; Presenilin

Alternate CHM1_1.1

Genomic

  1. 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

  1. NM_007319.1: Suppressed sequence

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