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Gene: PSEN1 (presenilin 1) Homo sapiens
Analyze
Symbol: PSEN1
Name: presenilin 1
Description: Exhibits several functions, including PDZ domain binding activity; aspartic endopeptidase activity, intramembrane cleaving; and beta-catenin binding activity. Involved in several processes, including neurogenesis; positive regulation of nitrogen compound metabolic process; and proteolysis. Localizes to several cellular components, including the aggresome; endoplasmic reticulum; and nucleus. Implicated in dilated cardiomyopathy 1U; frontotemporal dementia; hidradenitis suppurativa; and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACNINV3; AD3; FAD; presenilin 1 (Alzheimer disease 3); presenilin-1; presenilin-1 isoform I-467; PS-1; PS1; S182
Orthologs:
Mus musculus (house mouse) : Psen1 (presenilin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Psen1 (presenilin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Psen1 (presenilin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PSEN1 (presenilin 1)
Canis lupus familiaris (dog) : PSEN1 (presenilin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Psen1 (presenilin 1)
Sus scrofa (pig) : PSEN1 (presenilin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,436 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371473,603,143 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBI
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Genomics

Comparative Map Data
Position Markers
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Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
  
More on PSEN1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731724
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.