Entity Details

Primary name PSEN1
Entity type gene
Source Source Link

Details

PrimaryID5663
RefseqGeneNG_007386
SymbolPSEN1
Namepresenilin 1
Chromosome14
Location14q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsPSN1_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000139 Golgi membrane
GO:0000186 obsolete activation of MAPKK activity
GO:0000776 kinetochore
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:0001947 heart looping
GO:0002038 positive regulation of L-glutamate import across plasma membrane
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002265 astrocyte activation involved in immune response
GO:0002286 T cell activation involved in immune response
GO:0003407 neural retina development
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005262 calcium channel activity
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005654 nucleoplasm
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:0006486 protein glycosylation
GO:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
GO:0006839 mitochondrial transport
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:0007220 Notch receptor processing
GO:0007611 learning or memory
GO:0007613 memory
GO:0008013 beta-catenin binding
GO:0008021 synaptic vesicle
GO:0009791 post-embryonic development
GO:0009986 cell surface
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010975 regulation of neuron projection development
GO:0015031 protein transport
GO:0015871 choline transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016080 synaptic vesicle targeting
GO:0016235 aggresome
GO:0016324 apical plasma membrane
GO:0016485 protein processing
GO:0021549 cerebellum development
GO:0021795 cerebral cortex cell migration
GO:0021870 Cajal-Retzius cell differentiation
GO:0021904 dorsal/ventral neural tube patterning
GO:0030018 Z disc
GO:0030054 cell junction
GO:0030165 PDZ domain binding
GO:0030326 embryonic limb morphogenesis
GO:0030426 growth cone
GO:0031293 membrane protein intracellular domain proteolysis
GO:0031594 neuromuscular junction
GO:0031901 early endosome membrane
GO:0031965 nuclear membrane
GO:0032092 positive regulation of protein binding
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0032760 positive regulation of tumor necrosis factor production
GO:0032991 protein-containing complex
GO:0034205 amyloid-beta formation
GO:0035253 ciliary rootlet
GO:0035333 Notch receptor processing, ligand-dependent
GO:0035556 intracellular signal transduction
GO:0035577 azurophil granule membrane
GO:0042307 positive regulation of protein import into nucleus
GO:0042325 regulation of phosphorylation
GO:0042327 positive regulation of phosphorylation
GO:0042383 sarcolemma
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0042982 amyloid precursor protein metabolic process
GO:0042987 amyloid precursor protein catabolic process
GO:0043005 neuron projection
GO:0043011 myeloid dendritic cell differentiation
GO:0043025 neuronal cell body
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043198 dendritic shaft
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0043589 skin morphogenesis
GO:0045121 membrane raft
GO:0045296 cadherin binding
GO:0045821 positive regulation of glycolytic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048013 ephrin receptor signaling pathway
GO:0048143 astrocyte activation
GO:0048167 regulation of synaptic plasticity
GO:0048471 perinuclear region of cytoplasm
GO:0048538 thymus development
GO:0048666 neuron development
GO:0048705 skeletal system morphogenesis
GO:0048854 brain morphogenesis
GO:0050435 amyloid-beta metabolic process
GO:0050673 epithelial cell proliferation
GO:0050771 negative regulation of axonogenesis
GO:0050808 synapse organization
GO:0050820 positive regulation of coagulation
GO:0050852 T cell receptor signaling pathway
GO:0051117 ATPase binding
GO:0051208 sequestering of calcium ion
GO:0051402 neuron apoptotic process
GO:0051444 negative regulation of ubiquitin-protein transferase activity
GO:0051563 smooth endoplasmic reticulum calcium ion homeostasis
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060075 regulation of resting membrane potential
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0060999 positive regulation of dendritic spine development
GO:0070765 gamma-secretase complex
GO:0070851 growth factor receptor binding
GO:0090647 modulation of age-related behavioral decline
GO:0098609 cell-cell adhesion
GO:0098712 L-glutamate import across plasma membrane
GO:0099056 integral component of presynaptic membrane
GO:1904646 cellular response to amyloid-beta
GO:1904797 negative regulation of core promoter binding
GO:1905908 positive regulation of amyloid fibril formation
GO:1990535 neuron projection maintenance
GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process
GO:2001234 negative regulation of apoptotic signaling pathway

Diseases

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Interactions

82 interactions

InteractorPartnerSourcesPublicationsLink
PSEN1Kcnip3MINT27009418 details
PSEN1Notch1DIP21115843 details
PSEN1Apba2IntAct11083918 details
PSEN1Ctnnb1BioGRID, IntAct12070348 27036734 details
PSEN1NcstnBioGRID, IntAct26496610 details
PSEN1Gstp2IntAct27036734 details
PSEN1Grpel1IntAct27036734 details
PSEN1GapdhsIntAct27036734 details
PSEN1Gstm5IntAct27036734 details
PSEN1Gstm1IntAct27036734 details
PSEN1Hspa8IntAct27036734 details
PSEN1Tubb3IntAct27036734 details
PSEN1Gstp1IntAct27036734 details
PSEN1Tubb5IntAct27036734 details
PSEN1Rps3IntAct27036734 details
PSEN1Syn1IntAct27036734 details
PSEN1InaIntAct27036734 details
PSEN1Sfxn3IntAct27036734 details
PSEN1Slc25a12IntAct27036734 details
PSEN1Lancl1IntAct27036734 details
PSEN1Atp1b1IntAct27036734 details
PSEN1CnpIntAct27036734 details
PSEN1Tuba4aIntAct27036734 details
PSEN1Atp5a1IntAct27036734 details
PSEN1Tubb4aIntAct27036734 details
PSEN1Eef1a2IntAct27036734 details
PSEN1MbpIntAct27036734 details
PSEN1TufmIntAct27036734 details
PSEN1Eef1a1IntAct27036734 details
PSEN1Slc1a2IntAct27036734 details
PSEN1Slc25a22IntAct27036734 details
PSEN1Rph3aIntAct27036734 details
PSEN1Ctnnd1IntAct27036734 details
PSEN1Tubb2bIntAct27036734 details
PSEN1Acta1IntAct27036734 details
PSEN1Hspa5IntAct27036734 details
PSEN1Ppp2r1aIntAct27036734 details
PSEN1Slc25a5IntAct27036734 details
PSEN1Slc25a11IntAct27036734 details
PSEN1Ctnnd2IntAct27036734 details
PSEN1Dcaf12l1IntAct27036734 details
PSEN1NeflIntAct27036734 details
PSEN1Eno1IntAct27036734 details
PSEN1Eno1bIntAct27036734 details
PSEN1Map2IntAct27036734 details
PSEN1Slc25a4IntAct27036734 details
PSEN1Hspa12aIntAct27036734 details
PSEN1Camk2aIntAct27036734 details
PSEN1Atp5bIntAct27036734 details
PSEN1Atp5oIntAct27036734 details
PSEN1Dpysl2IntAct27036734 details
PSEN1Rps16IntAct27036734 details
PSEN1Brsk1IntAct27036734 details
PSEN1Ctnna2IntAct27036734 details
PSEN1Gstm7IntAct27036734 details
PSEN1ActbIntAct27036734 details
PSEN1Syt1IntAct27036734 details
PSEN1GapdhIntAct27036734 details
PSEN1Atp5c1IntAct27036734 details
PSEN1MaptIntAct27036734 details
PSEN1FarsaIntAct27036734 details
PSEN1NsfIntAct27036734 details
PSEN1Hspa9IntAct27036734 details
PSEN1Gstm2IntAct27036734 details
PSEN1Hspa1lIntAct27036734 details
PSEN1Tuba1aIntAct27036734 details
PSEN1HnrnpkIntAct27036734 details
PSEN1Atp1a3IntAct27036734 details
PSEN1Gad1IntAct27036734 details
PSEN1CamkvIntAct27036734 details
PSEN1PkmIntAct27036734 details
PSEN1Gsk3bIntAct27036734 details
PSEN1Camk2dIntAct27036734 details
PSEN1Cpne6IntAct27036734 details
PSEN1Map6IntAct27036734 details
PSEN1Slc25a3IntAct27036734 details
PSEN1BtrcIntAct27036734 details
PSEN1Smap1IntAct27036734 details
PSEN1Cpne4IntAct27036734 details
PSEN1Dpysl3IntAct27036734 details
PSEN1Itgb1DIP18942891 details
PSEN1Npr3DIP18942891 details