PSEN1 - Presenilin-1 - human protein (Function)
 
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PSEN1 »  Presenilin-1   [ EC 3.4.23.- ]  (PS-1)
 
Protein also known as:  Protein S182. Cleaved into:  Presenilin-1 CTF subunit; Presenilin-1 CTF12; Presenilin-1 NTF subunit.
Gene name:  PSEN1
Family name: Peptidase A22A
Entry whose protein(s) existence is based on evidence at protein level
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1 141 7
GENE REF ISO

Function

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Overview 
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.  
8
  • CuratedUniProtKB
According to TCDB this is a transporter from family:
the presenilin er ca(2+) leak channel (presenilin) family  1.A.54.1.1  
GO molecular function 
Aspartic-type endopeptidase activitydefinition[GO:0004190] silver  
  • IEAInterPro 2 GO
Beta-catenin bindingdefinition[GO:0008013]  
2
  • IPIMGI
  • IPIUniProtKB
Cadherin bindingdefinition[GO:0045296] silver  
  • IBARefGenome
Calcium channel activitydefinition[GO:0005262]  
1
  • IMPUniProtKB
Endopeptidase activitydefinition[GO:0004175]  
1
  • IDAMGI
PDZ domain bindingdefinition[GO:0030165]  
1
  • IPIUniProtKB
Protein bindingdefinition[GO:0005515]  
11
  • IPIIntAct
  • IPIUniProtKB
  • IPIHGNC
GO biological process 
Activation of MAPKK activitydefinition[GO:0000186] silver  
  • IEAOrtholog Compara
Amyloid precursor protein catabolic processdefinition[GO:0042987]  
1
  • TASHGNC
  • IBARefGenome
Anagendefinition[GO:0042640] silver  
  • IEAOrtholog Compara
Autophagic vacuole assemblydefinition[GO:0000045] silver  
  • IEAOrtholog Compara
Beta-amyloid formationdefinition[GO:0034205] silver  
  • IEAOrtholog Compara
Beta-amyloid metabolic processdefinition[GO:0050435] silver  
  • IBARefGenome
Blood vessel developmentdefinition[GO:0001568] silver  
  • IEAOrtholog Compara
Brain morphogenesisdefinition[GO:0048854] silver  
  • IEAOrtholog Compara
Cajal-Retzius cell differentiationdefinition[GO:0021870] silver  
  • IEAOrtholog Compara
Calcium ion transmembrane transportdefinition[GO:0070588]  
1
  • IMPGOC
Calcium ion transportdefinition[GO:0006816] silver  
  • IBARefGenome
Cell fate specificationdefinition[GO:0001708] silver  
  • IEAOrtholog Compara
Cell-cell adhesiondefinition[GO:0016337]  
1
  • IMPMGI
Cellular response to DNA damage stimulusdefinition[GO:0006974] silver  
  • IEAOrtholog Compara
Cerebral cortex cell migrationdefinition[GO:0021795] silver  
  • IEAOrtholog Compara
Choline transportdefinition[GO:0015871] silver  
  • IEAOrtholog Compara
Dorsal/ventral neural tube patterningdefinition[GO:0021904] silver  
  • IEAOrtholog Compara
Embryonic limb morphogenesisdefinition[GO:0030326] silver  
  • IEAOrtholog Compara
Endoplasmic reticulum calcium ion homeostasisdefinition[GO:0032469]  
2
  • IDAMGI
  • IGIUniProtKB
Epithelial cell proliferationdefinition[GO:0050673] silver  
  • IEAOrtholog Compara
Heart loopingdefinition[GO:0001947] silver  
  • IEAOrtholog Compara
Hematopoietic progenitor cell differentiationdefinition[GO:0002244] silver  
  • IEAOrtholog Compara
Intracellular signal transductiondefinition[GO:0035556] silver  
  • IEAInterPro 2 GO
Ion transmembrane transportdefinition[GO:0034220]  
1
  • IMPGOC
L-glutamate transportdefinition[GO:0015813] silver  
  • IEAOrtholog Compara
Membrane protein ectodomain proteolysisdefinition[GO:0006509]  
1
  • IDAHGNC
Memorydefinition[GO:0007613] silver  
  • IEAOrtholog Compara
Mitochondrial transportdefinition[GO:0006839] silver  
  • IEAOrtholog Compara
Myeloid leukocyte differentiationdefinition[GO:0002573] silver  
  • IEAOrtholog Compara
Negative regulation of apoptotic processdefinition[GO:0043066]  
1
  • IDAUniProtKB
Negative regulation of apoptotic signaling pathwaydefinition[GO:2001234] silver  
  • IEAOrtholog Compara
Negative regulation of axonogenesisdefinition[GO:0050771] silver  
  • IEAOrtholog Compara
Negative regulation of epidermal growth factor-activated receptor activitydefinition[GO:0007175] silver  
  • IEAOrtholog Compara
Negative regulation of neuron apoptotic processdefinition[GO:0043524] silver  
  • IEAOrtholog Compara
Negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processdefinition[GO:2000059] silver  
  • IEAOrtholog Compara
Negative regulation of transcription from RNA polymerase II promoterdefinition[GO:0000122] silver  
  • IEAOrtholog Compara
Negative regulation of ubiquitin-protein ligase activitydefinition[GO:0051444] silver  
  • IEAOrtholog Compara
Neuron apoptotic processdefinition[GO:0051402] silver  
  • IEAOrtholog Compara
Neuron developmentdefinition[GO:0048666] silver  
  • IEAOrtholog Compara
Neuron migrationdefinition[GO:0001764] silver  
  • IEAOrtholog Compara
Notch receptor processingdefinition[GO:0007220]  
1
  • TASHGNC
  • IBARefGenome
Notch signaling pathwaydefinition[GO:0007219] silver  
  • IEAOrtholog Compara
Positive regulation of apoptotic processdefinition[GO:0043065] silver  
  • IEAOrtholog Compara
Positive regulation of catalytic activitydefinition[GO:0043085]  
1
  • IDAHGNC
Positive regulation of coagulationdefinition[GO:0050820] silver  
  • IEAOrtholog Compara
Positive regulation of MAP kinase activitydefinition[GO:0043406] silver  
  • IEAOrtholog Compara
Positive regulation of proteasomal ubiquitin-dependent protein catabolic processdefinition[GO:0032436] silver  
  • IEAOrtholog Compara
Positive regulation of receptor recyclingdefinition[GO:0001921] silver  
  • IEAOrtholog Compara
Post-embryonic developmentdefinition[GO:0009791] silver  
  • IEAOrtholog Compara
Protein glycosylationdefinition[GO:0006486] silver  
  • IEAOrtholog Compara
Protein processingdefinition[GO:0016485]  
1
  • IDAHGNC
Protein transportdefinition[GO:0015031] silver  
  • IEAOrtholog Compara
Regulation of phosphorylationdefinition[GO:0042325]  
1
  • IDAUniProtKB
Regulation of protein bindingdefinition[GO:0043393] silver  
  • IEAOrtholog Compara
Regulation of resting membrane potentialdefinition[GO:0060075] silver  
  • IEAOrtholog Compara
Regulation of synaptic plasticitydefinition[GO:0048167] silver  
  • IEAOrtholog Compara
Regulation of synaptic transmission, glutamatergicdefinition[GO:0051966] silver  
  • IEAOrtholog Compara
Response to oxidative stressdefinition[GO:0006979] silver  
  • IEAOrtholog Compara
Skeletal system morphogenesisdefinition[GO:0048705] silver  
  • IEAOrtholog Compara
Skin morphogenesisdefinition[GO:0043589] silver  
  • IEAOrtholog Compara
Smooth endoplasmic reticulum calcium ion homeostasisdefinition[GO:0051563] silver  
  • IBARefGenome
Somitogenesisdefinition[GO:0001756] silver  
  • IEAOrtholog Compara
Synaptic vesicle targetingdefinition[GO:0016080] silver  
  • IEAOrtholog Compara
T cell activation involved in immune responsedefinition[GO:0002286] silver  
  • IEAOrtholog Compara
T cell receptor signaling pathwaydefinition[GO:0050852] silver  
  • IEAOrtholog Compara
Thymus developmentdefinition[GO:0048538] silver  
  • IEAOrtholog Compara
Transmembrane transportdefinition[GO:0055085]  
1
  • IMPGOC
Enzymatic activity 
 
More information is available from:
Pathways 
According to KEGG, this protein belongs to the following pathways:
Alzheimer's disease  hsa05010+5663  
Neurotrophin signaling pathway  hsa04722+5663  
Notch signaling pathway  hsa04330+5663  
Wnt signaling pathway  hsa04310+5663  
According to Reactome, this protein belongs to the following pathway:
Extracellular matrix organization  REACT_118779  
 

Keywords

Biological process 
Apoptosis  definition   [KW-0053]
Cell adhesion  definition   [KW-0130]
Notch signaling pathway  definition   [KW-0914]
Molecular function 
Hydrolase  definition   [KW-0378]
Protease  definition   [KW-0645]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Other
GeneWiki: PSEN1
GenomeRNAi: 5663
PRO: PR:P49768
Chemistry
GuidetoPHARMACOLOGY: 2402