Mus musculus Protein: Psen1
Summary
InnateDB Protein IDBP-155524.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Psen1
Protein Name presenilin 1
Synonyms Ad3h; PS-1; PS1; S182;
Species Mus musculus
Ensembl Protein ENSMUSP00000048363
InnateDB Gene IDBG-155522 (Psen1)
Protein Structure
UniProt Annotation
Function Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis (By similarity). {ECO:0000250}.
Subcellular Localization Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell surface {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
They are also associated with 103 interaction(s) predicted by orthology.
Experimentally validated
Total 42 [view]
Protein-Protein 42 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 103 [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: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:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
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:0030182 neuron differentiation
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: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: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:0035253 ciliary rootlet
GO:0043025 neuronal cell body
GO:0043198 dendritic shaft
GO:0043227 membrane-bounded organelle
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0070765 gamma-secretase complex
Protein Structure and Domains
PDB ID MGI:1202717
InterPro IPR001108 Peptidase A22A, presenilin
IPR002031 Peptidase A22A, presenilin 1
IPR006639 Presenilin/signal peptide peptidase
PFAM PF01080
PRINTS PR01072
PR01073
PIRSF
SMART SM00730
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P49769
PhosphoSite PhosphoSite-P49769
TrEMBL Q3UYK2
UniProt Splice Variant
Entrez Gene 19164
UniGene Mm.998
RefSeq XP_006515668
MGI ID
MGI Symbol Psen1
OMIM
CCDS CCDS26030
HPRD
IMGT
EMBL AF007560 AF149111 AK134232 AK134615 AK148101 AK165984 AK169963 BC014744 BC030409 BC071233 CH466590 L42177
GenPept AAB72049 AAC42094 AAF73153 AAH14744 AAH30409 AAH71233 BAE22058 BAE22210 BAE28344 BAE38500 BAE41486 EDL02742 EDL02744