Version 5.4
Homo sapiens Gene: PSEN1
Summary
InnateDB Gene IDBG-11235.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PSEN1
Gene Name presenilin 1
Synonyms AD3; FAD; PS-1; PS1; S182
Species Homo sapiens
Ensembl Gene ENSG00000080815
Encoded Proteins
IDBP-11237
presenilin 1
IDBP-11241
presenilin 1
IDBP-242110
presenilin 1
IDBP-242112
presenilin 1
IDBP-293299
presenilin 1
IDBP-598030
presenilin 1
IDBP-594406
presenilin 1
IDBP-591365
presenilin 1
IDBP-601225
presenilin 1
IDBP-585669
presenilin 1
IDBP-583833
presenilin 1
IDBP-597533
presenilin 1
IDBP-583338
presenilin 1
IDBP-588506
presenilin 1
IDBP-600874
presenilin 1
IDBP-589182
presenilin 1
IDBP-597426
presenilin 1
IDBP-599217
presenilin 1
IDBP-591864
presenilin 1
IDBP-597694
presenilin 1
IDBP-602239
presenilin 1
IDBP-598310
presenilin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:73136418-73223691
Strand Forward strand
Band q24.2
Transcripts
ENST00000357710 ENSP00000350342
ENST00000324501 ENSP00000326366
ENST00000394164 ENSP00000377719
ENST00000394157 ENSP00000377712
ENST00000406768 ENSP00000385948
ENST00000557356 ENSP00000451498
ENST00000556864 ENSP00000451588
ENST00000556533 ENSP00000452128
ENST00000556951 ENSP00000450551
ENST00000557293 ENSP00000451880
ENST00000553719 ENSP00000451674
ENST00000553599 ENSP00000452477
ENST00000556011 ENSP00000451662
ENST00000560005 ENSP00000453466
ENST00000555254 ENSP00000450652
ENST00000553447
ENST00000554131 ENSP00000451915
ENST00000559361 ENSP00000454156
ENST00000557037 ENSP00000451347
ENST00000556066 ENSP00000452267
ENST00000553855 ENSP00000452242
ENST00000555386 ENSP00000450845
ENST00000557511 ENSP00000451429
ENST00000554995
ENST00000555867
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 157 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.
Experimentally validated
Total 157 [view]
Protein-Protein 153 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 25 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008233 peptidase activity
GO:0030165 PDZ domain binding
GO:0045296 cadherin binding
Biological Process
GO:0000045 autophagic vacuole assembly
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000186 activation of MAPKK activity
GO:0001568 blood vessel development
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0001764 neuron migration
GO:0001921 positive regulation of receptor recycling
GO:0001933 negative regulation of protein phosphorylation
GO:0001934 positive regulation of protein phosphorylation
GO:0001947 heart looping
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002286 T cell activation involved in immune response
GO:0002573 myeloid leukocyte differentiation
GO:0006469 negative regulation of protein kinase activity
GO:0006486 protein glycosylation
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0006839 mitochondrial transport
GO:0006874 cellular calcium ion homeostasis
GO:0006914 autophagy
GO:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity
GO:0007176 regulation of epidermal growth factor-activated receptor activity
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0007420 brain development
GO:0007507 heart development
GO:0007611 learning or memory
GO:0007613 memory
GO:0009791 post-embryonic development
GO:0015031 protein transport
GO:0015813 L-glutamate transport
GO:0015871 choline transport
GO:0016080 synaptic vesicle targeting
GO:0016337 single organismal cell-cell adhesion
GO:0016485 protein processing
GO:0021795 cerebral cortex cell migration
GO:0021870 Cajal-Retzius cell differentiation
GO:0021904 dorsal/ventral neural tube patterning
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0022617 extracellular matrix disassembly
GO:0030182 neuron differentiation
GO:0030198 extracellular matrix organization
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0034205 beta-amyloid formation
GO:0035282 segmentation
GO:0035556 intracellular signal transduction
GO:0040011 locomotion
GO:0042325 regulation of phosphorylation
GO:0042640 anagen
GO:0042987 amyloid precursor protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043393 regulation of protein binding
GO:0043406 positive regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0043589 skin morphogenesis
GO:0044267 cellular protein metabolic process
GO:0045860 positive regulation of protein kinase activity
GO:0048167 regulation of synaptic plasticity
GO:0048538 thymus development
GO:0048666 neuron development
GO:0048705 skeletal system morphogenesis
GO:0048854 brain morphogenesis
GO:0050435 beta-amyloid metabolic process
GO:0050673 epithelial cell proliferation
GO:0050771 negative regulation of axonogenesis
GO:0050820 positive regulation of coagulation
GO:0050852 T cell receptor signaling pathway
GO:0051402 neuron apoptotic process
GO:0051444 negative regulation of ubiquitin-protein transferase activity
GO:0051563 smooth endoplasmic reticulum calcium ion homeostasis
GO:0051604 protein maturation
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060070 canonical Wnt signaling pathway
GO:0060075 regulation of resting membrane potential
GO:0070588 calcium ion transmembrane transport
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234 negative regulation of apoptotic signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0000776 kinetochore
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005790 smooth endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030018 Z disc
GO:0030424 axon
GO:0030425 dendrite
GO:0030426 growth cone
GO:0031410 cytoplasmic vesicle
GO:0031594 neuromuscular junction
GO:0031965 nuclear membrane
GO:0035253 ciliary rootlet
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043198 dendritic shaft
GO:0043227 membrane-bounded organelle
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0070765 gamma-secretase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019969
View Gene Order
ENSBTAG00000011757
Not yet available
Pathways
NETPATH
NetPath_3
Notch pathway
REACTOME
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
KEGG
hsa04310
Wnt signaling pathway pathway
hsa04330
Notch signaling pathway pathway
hsa05010
Alzheimer's disease pathway
hsa04722
Neurotrophin signaling pathway pathway
INOH
INOH website
Notch signaling pathway pathway
PID NCI
ps1pathway
Presenilin action in Notch and Wnt signaling
p75ntrpathway
p75(NTR)-mediated signaling
syndecan_3_pathway
Syndecan-3-mediated signaling events
Cross-References
SwissProt
TrEMBL G3V2B1 G3V3P0 G3V449 G3V5B1
UniProt Splice Variant
Entrez Gene 5663
UniGene Hs.3260 Hs.594659 Hs.715058 Hs.717379
RefSeq NM_000021 NM_007318 XM_005267864 XM_005267866
HUGO HGNC:9508
OMIM 104311
CCDS CCDS9812 CCDS9813
HPRD 00087
IMGT
EMBL AC004846 AC004858
GenPept
RNA Seq Atlas 5663

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca