Gene Ontology

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5663
  • Symbol: PSEN1
  • Description: presenilin 1

Process

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GeneID GO_ID Evidence Qualifier GO_term Pubmed ID Category
5663 GO:0000122 IMP involved_in negative regulation of transcription by RNA polymerase II 10508860 Process
5663 GO:0002265 IGI involved_in astrocyte activation involved in immune response 23152628 Process
5663 GO:0006509 IDA involved_in membrane protein ectodomain proteolysis 15274632 Process
5663 GO:0006974 IDA involved_in DNA damage response 25542424 Process
5663 GO:0007220 IDA involved_in Notch receptor processing 27608597 Process
5663 GO:0007611 IGI involved_in learning or memory 20445063,24012003,24052308 Process
5663 GO:0007613 IGI involved_in memory 11880515 Process
5663 GO:0010468 IGI involved_in regulation of gene expression 26200696 Process
5663 GO:0010628 IGI involved_in positive regulation of gene expression 28008308,29061364 Process
5663 GO:0010629 IGI involved_in negative regulation of gene expression 28008308,29061364 Process
5663 GO:0010975 IMP involved_in regulation of neuron projection development 15004326 Process
5663 GO:0016485 IDA involved_in protein processing 15274632,27608597 Process
5663 GO:0016485 IGI involved_in protein processing 12763021 Process
5663 GO:0016485 IMP involved_in protein processing 12297508 Process
5663 GO:0032092 IGI involved_in positive regulation of protein binding 24052308 Process
5663 GO:0032469 IDA acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis 17431506 Process
5663 GO:0032469 IGI involved_in endoplasmic reticulum calcium ion homeostasis 16959576 Process
5663 GO:0032469 IMP involved_in endoplasmic reticulum calcium ion homeostasis 25394380 Process
5663 GO:0032760 IGI involved_in positive regulation of tumor necrosis factor production 29061364 Process
5663 GO:0034205 IDA involved_in amyloid-beta formation 27608597 Process
5663 GO:0034205 IGI involved_in amyloid-beta formation 12763021 Process
5663 GO:0034205 IMP involved_in amyloid-beta formation 12297508,26280335 Process
5663 GO:0042307 IMP involved_in positive regulation of protein import into nucleus 10508860 Process
5663 GO:0042325 IDA involved_in regulation of phosphorylation 9689133 Process
5663 GO:0042327 IGI involved_in positive regulation of phosphorylation 25707991 Process
5663 GO:0042982 IDA involved_in amyloid precursor protein metabolic process 26280335 Process
5663 GO:0042987 IDA involved_in amyloid precursor protein catabolic process 27608597 Process
5663 GO:0042987 IGI involved_in amyloid precursor protein catabolic process 12763021 Process
5663 GO:0042987 IMP involved_in amyloid precursor protein catabolic process 12297508 Process
5663 GO:0043066 IDA involved_in negative regulation of apoptotic process 10805794 Process
5663 GO:0043066 IMP involved_in negative regulation of apoptotic process 10508860 Process
5663 GO:0043085 IDA involved_in positive regulation of catalytic activity 15274632 Process
5663 GO:0045821 IGI involved_in positive regulation of glycolytic process 29061364 Process
5663 GO:0045893 IMP involved_in positive regulation of DNA-templated transcription 23794287 Process
5663 GO:0048143 IGI involved_in astrocyte activation 20445063 Process
5663 GO:0050808 IGI involved_in synapse organization 24012003 Process
5663 GO:0060999 IMP involved_in positive regulation of dendritic spine development 21951279 Process
5663 GO:0098609 IMP acts_upstream_of_or_within cell-cell adhesion 11953314 Process
5663 GO:1904646 IGI involved_in cellular response to amyloid-beta 23152628 Process
5663 GO:1904797 IMP involved_in negative regulation of core promoter binding 10508860 Process
5663 GO:1905598 IGI NOT involved_in negative regulation of low-density lipoprotein receptor activity 20005821 Process
5663 GO:1905908 IGI involved_in positive regulation of amyloid fibril formation 11880515 Process
5663 GO:1990535 IGI involved_in neuron projection maintenance 20445063 Process

Component

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GeneID GO_ID Evidence Qualifier GO_term Pubmed ID Category
5663 GO:0000776 IDA located_in kinetochore 9298903 Component
5663 GO:0005634 IMP located_in nucleus 10508860 Component
5663 GO:0005640 IDA located_in nuclear outer membrane 9246482 Component
5663 GO:0005654 IDA located_in nucleoplasm Component
5663 GO:0005739 IDA located_in mitochondrion 12377771 Component
5663 GO:0005783 IDA located_in endoplasmic reticulum 9246482,15274632 Component
5663 GO:0005790 IDA colocalizes_with smooth endoplasmic reticulum 10508860 Component
5663 GO:0005790 IDA located_in smooth endoplasmic reticulum 9632714 Component
5663 GO:0005791 IDA located_in rough endoplasmic reticulum 9632714 Component
5663 GO:0005794 IDA located_in Golgi apparatus 9246482,9632714,15274632 Component
5663 GO:0005813 IDA located_in centrosome 9298903 Component
5663 GO:0005886 IDA located_in plasma membrane 15274632,21143716 Component
5663 GO:0016020 IDA located_in membrane 22375059,26280335 Component
5663 GO:0016235 IDA located_in aggresome 21143716 Component
5663 GO:0030054 IDA located_in cell junction Component
5663 GO:0030426 IDA located_in growth cone 15004326 Component
5663 GO:0031965 IDA located_in nuclear membrane 9298903 Component
5663 GO:0032991 IMP part_of protein-containing complex 10508860 Component
5663 GO:0043005 IDA located_in neuron projection 15004326 Component
5663 GO:0045121 IDA located_in membrane raft 20299451 Component
5663 GO:0070765 IDA part_of gamma-secretase complex 10801983,12297508,26280335 Component
5663 GO:0070765 IGI part_of gamma-secretase complex 12763021 Component

Function

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GeneID GO_ID Evidence Qualifier GO_term Pubmed ID Category
5663 GO:0004175 IDA enables endopeptidase activity 8755489 Function
5663 GO:0004175 IGI enables endopeptidase activity 12763021 Function
5663 GO:0004175 IMP enables endopeptidase activity 12297508 Function
5663 GO:0005262 IMP enables calcium channel activity 16959576 Function
5663 GO:0005515 IPI enables protein binding 9223340,9689133,10508860,11076969,11083918,12297508,12522139,1..... Function
5663 GO:0008013 IPI enables beta-catenin binding 9632714 Function
5663 GO:0030165 IPI enables PDZ domain binding 10551805 Function
5663 GO:0042500 IDA enables aspartic endopeptidase activity, intramembrane cleaving 26280335 Function
5663 GO:0042500 IMP enables aspartic endopeptidase activity, intramembrane cleaving 17428795 Function
5663 GO:0051117 IPI enables ATPase binding 26094765 Function
5663 GO:0070851 IPI enables growth factor receptor binding 26094765 Function