Human Gene PSEN1 (ENST00000324501.10_9) from GENCODE V47lift37
  Description: presenilin 1, transcript variant 1 (from RefSeq NM_000021.4)
Gencode Transcript: ENST00000324501.10_9
Gencode Gene: ENSG00000080815.20_17
Transcript (Including UTRs)
   Position: hg19 chr14:73,603,215-73,690,399 Size: 87,185 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr14:73,614,728-73,685,997 Size: 71,270 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:73,603,215-73,690,399)mRNA (may differ from genome)Protein (467 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PSN1_HUMAN
DESCRIPTION: RecName: Full=Presenilin-1; Short=PS-1; EC=3.4.23.-; AltName: Full=Protein S182; Contains: RecName: Full=Presenilin-1 NTF subunit; Contains: RecName: Full=Presenilin-1 CTF subunit; Contains: RecName: Full=Presenilin-1 CTF12; Short=PS1-CTF12;
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.
SUBUNIT: Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity. Other components which are associated with the complex include SLC25A64, SLC5A7, PHB and PSEN1 isoform 3. Predominantly heterodimer of a N-terminal (NTF) and a C-terminal (CTF) endoproteolytical fragment. Associates with proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP). Associates with NOTCH1. Associates with cadherin/catenin adhesion complexes through direct binding to CDH1 or CDH2. Interaction with CDH1 stabilizes the complex and stimulates cell-cell aggregation. Interaction with CDH2 is essential for trafficking of CDH2 from the endoplasmic reticulum to the plasma membrane. Interacts with CTNND2, CTNNB1, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL. Interacts through its N-terminus with isoform 3 of GFAP. Interacts with DOCK3 (By similarity).
INTERACTION: P05067:APP; NbExp=6; IntAct=EBI-297277, EBI-77613; Q63053:Arc (xeno); NbExp=3; IntAct=EBI-2606326, EBI-5275794; Q16543:CDC37; NbExp=3; IntAct=EBI-297277, EBI-295634; P35222:CTNNB1; NbExp=2; IntAct=EBI-297277, EBI-491549; Q9BQ95:ECSIT; NbExp=4; IntAct=EBI-297277, EBI-712452; P14923:JUP; NbExp=4; IntAct=EBI-297277, EBI-702484; P50502:ST13; NbExp=3; IntAct=EBI-297277, EBI-357285; P49755:TMED10; NbExp=3; IntAct=EBI-297277, EBI-998422;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell surface. Note=Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils.
TISSUE SPECIFICITY: Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.
DOMAIN: The PAL motif is required for normal active site conformation.
PTM: Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1- CTF12.
PTM: After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.
DISEASE: Defects in PSEN1 are a cause of Alzheimer disease type 3 (AD3) [MIM:607822]. AD3 is a familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C- terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
DISEASE: Defects in PSEN1 are a cause of frontotemporal dementia (FTD) [MIM:600274].
DISEASE: Defects in PSEN1 are the cause of cardiomyopathy dilated type 1U (CMD1U) [MIM:613694]. It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
DISEASE: Defects in PSEN1 are the cause of familial acne inversa type 3 (ACNINV3) [MIM:613737]. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
SIMILARITY: Belongs to the peptidase A22A family.
WEB RESOURCE: Name=Alzheimer Research Forum; Note=Presenilins mutations; URL="http://www.alzforum.org/res/com/mut/pre/default.asp";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PSEN1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PSEN1
Diseases sorted by gene-association score: dementia, frontotemporal* (1352), alzheimer disease, type 3* (1318), acne inversa, familial, 3* (1019), cardiomyopathy, dilated, 1u* (829), pick disease* (728), dementia* (456), alzheimer disease-4* (283), kohlschutter-tonz syndrome* (283), early-onset, autosomal dominant alzheimer disease* (261), familial isolated dilated cardiomyopathy* (117), psen1-related dilated cardiomyopathy* (100), alzheimer disease (33), nominal aphasia (18), prosopagnosia (17), alexia (17), visual agnosia (16), associative agnosia (16), phonagnosia (15), topographical agnosia (15), cerebral amyloid angiopathy (15), early-onset familial alzheimer disease (14), speech and communication disorders (13), aphasia (13), alzheimer disease 18 (12), acne (12), alzheimer disease-2 (11), vascular dementia (11), hidradenitis suppurativa (10), apperceptive agnosia (10), hidradenitis (10), writing disorder (9), progressive non-fluent aphasia* (9), behavioral variant of frontotemporal dementia* (8), agraphia (8), spastic paraparesis (8), dysgraphia (7), normal pressure hydrocephalus (7), expressive language disorder (6), basal ganglia disease (6), anal canal squamous cell carcinoma (6), gait apraxia (6), echolalia (6), kluver-bucy syndrome (6), ideomotor apraxia (5), amyloidosis (5), amnestic disorder (4), transient global amnesia (4), internuclear ophthalmoplegia (4), frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (4), amyloidosis, familial visceral (3), cardiomyopathy (3), nervous system disease (2), central nervous system disease (2), disease of mental health (1), specific developmental disorder (1), dementia, lewy body (1), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.69 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 330.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.40212-0.280 Picture PostScript Text
3' UTR -1266.204402-0.288 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002031 - Pept_A22A_PS1
IPR006639 - Peptidase_A22
IPR001108 - Peptidase_A22A

Pfam Domains:
PF01080 - Presenilin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KR6 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P49768
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0016787 hydrolase activity
GO:0030165 PDZ domain binding
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0045296 cadherin binding

Biological Process:
GO:0000045 autophagosome 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:0002038 positive regulation of L-glutamate transport
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002265 astrocyte activation involved in immune response
GO:0002286 T cell activation involved in immune response
GO:0002573 myeloid leukocyte differentiation
GO:0003407 neural retina development
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:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0007155 cell adhesion
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:0015871 choline transport
GO:0016080 synaptic vesicle targeting
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: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:0033160 positive regulation of protein import into nucleus, translocation
GO:0034205 beta-amyloid formation
GO:0035282 segmentation
GO:0035333 Notch receptor processing, ligand-dependent
GO:0035556 intracellular signal transduction
GO:0040011 locomotion
GO:0042325 regulation of phosphorylation
GO:0042327 positive regulation of phosphorylation
GO:0042982 amyloid precursor protein metabolic process
GO:0042987 amyloid precursor protein catabolic process
GO:0043011 myeloid dendritic cell differentiation
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043312 neutrophil degranulation
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:0045893 positive regulation of transcription, DNA-templated
GO:0048143 astrocyte activation
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:0050808 synapse organization
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:0060828 regulation of canonical Wnt signaling pathway
GO:0060999 positive regulation of dendritic spine development
GO:0070588 calcium ion transmembrane transport
GO:0090647 modulation of age-related behavioral decline
GO:0098609 cell-cell adhesion
GO:1904646 cellular response to beta-amyloid
GO:1904797 negative regulation of core promoter binding
GO:1990535 neuron projection maintenance
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234 negative regulation of apoptotic signaling pathway
GO:1905598 negative regulation of low-density lipoprotein receptor activity

Cellular Component:
GO:0000139 Golgi membrane
GO:0000776 kinetochore
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005737 cytoplasm
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:0016235 aggresome
GO:0030018 Z disc
GO:0030054 cell junction
GO:0030424 axon
GO:0030425 dendrite
GO:0030426 growth cone
GO:0031410 cytoplasmic vesicle
GO:0031594 neuromuscular junction
GO:0031965 nuclear membrane
GO:0032991 macromolecular complex
GO:0035253 ciliary rootlet
GO:0035577 azurophil granule membrane
GO:0043005 neuron projection
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
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  LF384869 - JP 2014500723-A/192372: Polycomb-Associated Non-Coding RNAs.
AK303876 - Homo sapiens cDNA FLJ53003 complete cds, highly similar to Presenilin-1 (EC 3.4.23.-).
AK312531 - Homo sapiens cDNA, FLJ92900, Homo sapiens presenilin 1 (Alzheimer disease 3) (PSEN1), transcriptvariant I-467, mRNA.
BC011729 - Homo sapiens presenilin 1, mRNA (cDNA clone MGC:19554 IMAGE:4423098), complete cds.
L42110 - Homo sapiens (clone cc33) S182 mRNA, complete cds.
L76517 - Homo sapiens (clone cc44) senilin 1 (PS1; S182) mRNA, complete cds.
AK223173 - Homo sapiens mRNA for presenilin 1 isoform I-463 variant, clone: LNG14348.
AF416717 - Homo sapiens presenilin 1 (PSEN1) mRNA, complete cds.
AB384851 - Synthetic construct DNA, clone: pF1KB3765, Homo sapiens PSEN1 gene for presenilin-1, complete cds, without stop codon, in Flexi system.
KU178285 - Homo sapiens presenilin 1 isoform 1 (PSEN1) mRNA, partial cds.
KU178286 - Homo sapiens presenilin 1 isoform 2 (PSEN1) mRNA, partial cds.
KU178287 - Homo sapiens presenilin 1 isoform 3 (PSEN1) mRNA, complete cds, alternatively spliced.
HQ447260 - Synthetic construct Homo sapiens clone IMAGE:100070569; CCSB006970_02 presenilin 1 (Alzheimer disease 3) (PSEN1) gene, encodes complete protein.
KJ891910 - Synthetic construct Homo sapiens clone ccsbBroadEn_01304 PSEN1 gene, encodes complete protein.
U40379 - Human presenilin I-463 (AD3-3) mRNA, complete cds.
U40380 - Human presenilin I-374 (AD3-212) mRNA, complete cds.
AK122722 - Homo sapiens cDNA FLJ16221 fis, clone CTONG3002728, highly similar to PRESENILIN 1.
MA620446 - JP 2018138019-A/192372: Polycomb-Associated Non-Coding RNAs.
AJ008005 - Homo sapiens PSN1 gene, alternative transcript.
JD337181 - Sequence 318205 from Patent EP1572962.
JD172798 - Sequence 153822 from Patent EP1572962.
CU680030 - Synthetic construct Homo sapiens gateway clone IMAGE:100019517 5' read PSEN1 mRNA.
LF329945 - JP 2014500723-A/137448: Polycomb-Associated Non-Coding RNAs.
LF329946 - JP 2014500723-A/137449: Polycomb-Associated Non-Coding RNAs.
MA565522 - JP 2018138019-A/137448: Polycomb-Associated Non-Coding RNAs.
MA565523 - JP 2018138019-A/137449: Polycomb-Associated Non-Coding RNAs.
LF329950 - JP 2014500723-A/137453: Polycomb-Associated Non-Coding RNAs.
JD071652 - Sequence 52676 from Patent EP1572962.
JD161203 - Sequence 142227 from Patent EP1572962.
JD547023 - Sequence 528047 from Patent EP1572962.
LF329951 - JP 2014500723-A/137454: Polycomb-Associated Non-Coding RNAs.
JD086452 - Sequence 67476 from Patent EP1572962.
JD190424 - Sequence 171448 from Patent EP1572962.
JD245299 - Sequence 226323 from Patent EP1572962.
JD540083 - Sequence 521107 from Patent EP1572962.
JD420260 - Sequence 401284 from Patent EP1572962.
JD316266 - Sequence 297290 from Patent EP1572962.
JD059174 - Sequence 40198 from Patent EP1572962.
JD358422 - Sequence 339446 from Patent EP1572962.
JD288008 - Sequence 269032 from Patent EP1572962.
JD486400 - Sequence 467424 from Patent EP1572962.
JD061143 - Sequence 42167 from Patent EP1572962.
JD383084 - Sequence 364108 from Patent EP1572962.
JD068221 - Sequence 49245 from Patent EP1572962.
JD063356 - Sequence 44380 from Patent EP1572962.
JD092294 - Sequence 73318 from Patent EP1572962.
JD449459 - Sequence 430483 from Patent EP1572962.
JD396687 - Sequence 377711 from Patent EP1572962.
JD280397 - Sequence 261421 from Patent EP1572962.
JD153196 - Sequence 134220 from Patent EP1572962.
JD161372 - Sequence 142396 from Patent EP1572962.
JD300192 - Sequence 281216 from Patent EP1572962.
JD424265 - Sequence 405289 from Patent EP1572962.
JD556572 - Sequence 537596 from Patent EP1572962.
JD317191 - Sequence 298215 from Patent EP1572962.
AK094186 - Homo sapiens cDNA FLJ36867 fis, clone ASTRO2016491.
JD064018 - Sequence 45042 from Patent EP1572962.
LF209590 - JP 2014500723-A/17093: Polycomb-Associated Non-Coding RNAs.
AK094256 - Homo sapiens cDNA FLJ36937 fis, clone BRACE2005433.
LF329952 - JP 2014500723-A/137455: Polycomb-Associated Non-Coding RNAs.
JD027258 - Sequence 8282 from Patent EP1572962.
JD020500 - Sequence 1524 from Patent EP1572962.
JD029541 - Sequence 10565 from Patent EP1572962.
JD028703 - Sequence 9727 from Patent EP1572962.
MA565527 - JP 2018138019-A/137453: Polycomb-Associated Non-Coding RNAs.
MA565528 - JP 2018138019-A/137454: Polycomb-Associated Non-Coding RNAs.
MA565529 - JP 2018138019-A/137455: Polycomb-Associated Non-Coding RNAs.
MA445167 - JP 2018138019-A/17093: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_appPathway - Generation of amyloid b-peptide by PS1
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_notchpathway - Proteolysis and Signaling Pathway of Notch
h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P49768 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-2534206 E-cadherin degradation by PS1:NCSTN (Gamma-secretase)
R-HSA-157353 NEXT1 is cleaved to produce NICD1
R-HSA-157640 NEXT2 is cleaved to produce NICD2
R-HSA-157648 NEXT4 is cleaved to produce NICD4
R-NUL-2197556 Gamma-secretase complex cleaves mNEXT2
R-HSA-2220988 NEXT1 PEST domain mutants are cleaved to produce NICD1 PEST domain mutants
R-HSA-9013361 NEXT3 is cleaved to produce NICD3
R-HSA-193682 gamma-secretase cleaves the p75NTR transmembrane domain
R-HSA-1251997 Cleavage of ERBB4m80 by gamma-scretase complex
R-HSA-205112 gamma-secretase cleaves p75NTR, releasing NRIF and TRAF6
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization
R-HSA-157212 A third proteolytic cleavage releases NICD
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-1980150 Signaling by NOTCH4
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-1980143 Signaling by NOTCH1
R-HSA-1980145 Signaling by NOTCH2
R-HSA-157118 Signaling by NOTCH
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-9012852 Signaling by NOTCH3
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-1236394 Signaling by ERBB4
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-73887 Death Receptor Signalling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-422475 Axon guidance
R-HSA-5663202 Diseases of signal transduction
R-HSA-1266738 Developmental Biology
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: AD3, B2R6D3, ENST00000324501.1, ENST00000324501.2, ENST00000324501.3, ENST00000324501.4, ENST00000324501.5, ENST00000324501.6, ENST00000324501.7, ENST00000324501.8, ENST00000324501.9, NM_000021, O95465, P49768, PS1, PSN1_HUMAN, PSNL1, Q14762, Q15719, Q15720, Q96P33, Q9UIF0, uc317rri.1, uc317rri.2
UCSC ID: ENST00000324501.10_9
RefSeq Accession: NM_000021.4
Protein: P49768 (aka PSN1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PSEN1:
alzheimer (Alzheimer Disease Overview)
dcm-ov (Dilated Cardiomyopathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.