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Gene Information
Gene ID:5663
Symbol:PSEN1
Full Name:presenilin 1 (Alzheimer disease 3)
Alias:AD3|FAD|PS1|S182
Organism:Homo sapiens (Human)
Chromosome:14
Genetic Location:14q24.3
Physical Location:72672931-72756861 on NC_000014.7
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:PSEN1
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Information
Original IDNo. of PublicationsPhenotype
PSEN11Alcoholism
HuGE Navigator Dataset
Name:HuGE Navigator
Method:Literature data mining
Publication:Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000021.2NP_000012.1NC_000014.7 range: 72672931..72756861
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0000139Golgi membraneCellular ComponentIEA
GO:0016020membraneCellular ComponentIEA
GO:0005887integral to plasma membraneCellular ComponentIDA (15274632)
GO:0005794Golgi apparatusCellular ComponentIDA (15274632)
GO:0005789endoplasmic reticulum membraneCellular ComponentIEA
GO:0005783endoplasmic reticulumCellular ComponentIDA (15274632)
GO:0005739mitochondrionCellular ComponentIDA (12377771)
GO:0005640nuclear outer membraneCellular ComponentIDA (9246482)
GO:0000776kinetochoreCellular ComponentTAS (9298903)
GO:0009986cell surfaceCellular ComponentIEA
GO:0005624membrane fractionCellular ComponentTAS (8878479)
GO:0005639integral to nuclear inner membraneCellular ComponentTAS (9298903)
GO:0005515protein bindingMolecular FunctionIPI (9689133|10551805|12297508)
GO:0004175endopeptidase activityMolecular FunctionIDA (8755489)
GO:0042987amyloid precursor protein catabolic processBiological ProcessTAS (15274632)
GO:0032469endoplasmic reticulum calcium ion homeostasisBiological ProcessIDA (17431506)
GO:0016485protein processingBiological ProcessIDA (15274632)
GO:0016337cell-cell adhesionBiological ProcessIMP (11953314)
GO:0042325regulation of phosphorylationBiological ProcessIDA (9689133)
GO:0007242intracellular signaling cascadeBiological ProcessIEA
GO:0007220Notch receptor processingBiological ProcessTAS (15274632)
GO:0007059chromosome segregationBiological ProcessTAS (10206644)
GO:0006916anti-apoptosisBiological ProcessTAS (10805794)
GO:0006915apoptosisBiological ProcessIEA
GO:0006509membrane protein ectodomain proteolysisBiological ProcessIDA (15274632)
GO:0043085positive regulation of catalytic activityBiological ProcessIDA (15274632)
Other Database Cross Links
NCBI Entrez Gene:5663
HGNC:9508
Ensembl:ENSG00000080815
MIM:104311
HPRD:00087
HuGE Navigator:5663
dbSNP:PSEN1
GeneCard:PSEN1
AceView:PSEN1