You are using an outdated browser. Please upgrade your browser to improve your experience.

Tchem
PSEN1
Presenilin-1

Protein Summary
Description
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 (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314) ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000324501
  • ENSP00000326366
  • ENSG00000080815
  • ENST00000357710
  • ENSP00000350342
  • ENST00000394157
  • ENSP00000377712
  • ENST00000394164
  • ENSP00000377719
  • ENST00000553855
  • ENSP00000452242
  • ENST00000555386
  • ENSP00000450845
  • ENST00000557511
  • ENSP00000451429

Symbol
  • AD3
  • PS1
  • PSNL1
  • AD3
  • FAD
  • PS1
  • PS-1
  • S182
  • ACNINV3
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
hub protein
0.98
molecular function
0.94
disease perturbation
0.93
kinase perturbation
0.91


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4470.62   (req: < 5)
Gene RIFs: 498   (req: <= 3)
Antibodies: 853   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4470.62   (req: >= 5)
Gene RIFs: 498   (req: > 3)
Antibodies: 853   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 84
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 91
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
2
2
2
75.4
C-reactive protein measurement
1
1
1
72.3
alkaline phosphatase measurement
1
1
1
51.7
HbA1c measurement
1
1
1
47.7
cognitive function measurement
2
1
2
44.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
2
75.4
C-reactive protein measurement
1
72.3
alkaline phosphatase measurement
1
51.7
HbA1c measurement
1
47.7
cognitive function measurement
2
44.2
Orthologs (16)
1 – 5 of 16
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
presenilin 1
VGNC:3326
739740
Macaque
presenilin 1
696274
Mouse
MGI:1202717
19164
Rat
RGD:3425
29192
Dog
presenilin 1
VGNC:45085
403408
Species
Name
OMA
EggNOG
Inparanoid
Chimp
presenilin 1
Macaque
presenilin 1
Mouse
Rat
Dog
presenilin 1
Protein Structure (7 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P49768-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 7
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (57)
Activated NOTCH1 Transmits Signal to the Nucleus (R-HSA-2122948)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 35
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activated NOTCH1 Transmits Signal to the Nucleus
Reactome
Axon guidance
Reactome
Cell death signalling via NRAGE, NRIF and NADE
Reactome
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Reactome
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Name
Explore in Pharos
Explore in Source
Activated NOTCH1 Transmits Signal to the Nucleus
Axon guidance
Cell death signalling via NRAGE, NRIF and NADE
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Gene Ontology Terms (115)
Items per page:
10
1 – 7 of 7
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
MGI
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
Reactome
Protein-Protein Interactions (319)
1 – 10 of 319
SPPL2B
Tchem
Family:  Enzyme
Novelty:  0.0274774
p_int:  0.919532316
p_ni:  0.080467683
Score:  0.458
Data Source:  BioPlex,STRINGDB
AIRE
Tbio
Family:  TF; Epigenetic
Novelty:  0.00158659
p_int:  0.889469508
p_ni:  0.110530492
Data Source:  BioPlex
CDH8
Tbio
Novelty:  0.04055999
p_int:  0.789766622
p_ni:  0.210233377
Score:  0.27
Data Source:  BioPlex,STRINGDB
PSENEN
Tchem
Family:  Enzyme
Novelty:  0.00118125
Score:  0.999
Data Source:  Reactome,STRINGDB
APH1A
Tbio
Family:  Enzyme
Novelty:  0.00794922
Score:  0.999
Data Source:  Reactome,STRINGDB
NCSTN
Tbio
Novelty:  0.00453935
Score:  0.999
Data Source:  Reactome,STRINGDB
APH1B
Tbio
Family:  Enzyme
Novelty:  0.03620802
Score:  0.999
Data Source:  Reactome,STRINGDB
APP
Tchem
Novelty:  0.00008964
Score:  0.998
Data Source:  STRINGDB
PSEN2
Tchem
Family:  Enzyme
Novelty:  0.00112188
Score:  0.998
Data Source:  STRINGDB
CTNNB1
Tchem
Novelty:  0.0000744
Score:  0.994
Data Source:  STRINGDB
Publication Statistics
PubMed Score  4470.62

PubMed score by year
PubTator Score  1744.28

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by: