PSEN1 (presenilin 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PSEN1 (presenilin 1) Homo sapiens
Analyze
Symbol: PSEN1
Name: presenilin 1
RGD ID: 731724
HGNC Page HGNC:9508
Description: Enables several functions, including ATPase binding activity; PDZ domain binding activity; and aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including amyloid-beta formation; regulation of gene expression; and regulation of phosphate metabolic process. Acts upstream of or within cell-cell adhesion and endoplasmic reticulum calcium ion homeostasis. Located in several cellular components, including aggresome; endoplasmic reticulum; and nucleus. Part of gamma-secretase complex. Is active in dendrite. Implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACNINV3; AD3; CMD1U; FAD; familial Alzheimer Disease; presenilin 1 (Alzheimer disease 3); presenilin-1; presenilin-1 isoform I-467; PS-1; PS1; PSNL1; S182
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381473,136,417 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36Build 36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
T2T-CHM13v2.01467,341,963 - 67,429,152 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-(beta-D-galactosyloxy)-L-lysine  (ISO)
5-azacytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
aconitic acid  (ISO)
ADP  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aminoguanidine  (EXP)
amiodarone  (EXP)
ammonium chloride  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
ATP  (ISO)
atrazine  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-fructofuranose 1,6-bisphosphate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
citric acid  (ISO)
clothianidin  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-fructofuranose 1,6-bisphosphate  (ISO)
D-gluconic acid  (ISO)
D-glucopyranose 6-phosphate  (ISO)
D-glucose  (ISO)
DDT  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
enzalutamide  (EXP)
epoxiconazole  (ISO)
fenofibrate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
fulvestrant  (ISO)
fumaric acid  (ISO)
glucose  (ISO)
glyceraldehyde 3-phosphate  (ISO)
glycerol 1-phosphate  (ISO)
glycidol  (ISO)
glycine  (ISO)
glycine betaine  (ISO)
Goe 6976  (EXP,ISO)
hexadecanoic acid  (ISO)
IMP  (ISO)
inosine  (ISO)
isoflurane  (ISO)
isoniazide  (ISO)
isoprenaline  (ISO)
keto-D-fructose 1,6-bisphosphate  (ISO)
kynurenine  (ISO)
L-arginine  (ISO)
L-cysteine  (ISO)
L-glutamic acid  (ISO)
L-histidine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP,ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
malic acid  (ISO)
maneb  (ISO)
melatonin  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylglyoxal  (ISO)
Methysticin  (ISO)
miconazole  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-beta-D-glucosamine  (ISO)
N-acetyl-D-glucosamine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
notoginsenoside R1  (ISO)
O-propanoyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
oleic acid  (ISO)
ornithine  (ISO)
oxaliplatin  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palmitoleic acid  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phorbol 12,13-dibutanoate  (EXP)
pregabalin  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
S-adenosyl-L-homocysteine  (ISO)
sarin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
succinic acid  (ISO)
sulindac sulfide  (EXP)
tauroursodeoxycholic acid  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracosapentaenoic acid  (ISO)
titanium dioxide  (ISO)
tolonium chloride  (ISO)
toluene  (ISO)
trenbolone  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
trilostane  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valine  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View