Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
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)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

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



NHLBI Logo

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