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Tbio
APH1A
Gamma-secretase subunit APH-1A

Protein Classes
Protein Summary
Description
Non-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:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex 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 (Probable). This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000360244
  • ENSP00000353380
  • ENSG00000117362
  • ENST00000369109
  • ENSP00000358105
  • ENST00000414276
  • ENSP00000397473

Symbol
  • PSF
  • APH-1
  • APH-1A
  • CGI-78
  • 6530402N02Rik
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein complex
0.87
kinase perturbation
0.81
cellular component
0.77
transcription factor binding site profile
0.73
cell type or tissue
0.7


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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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: 100.54   (req: < 5)
Gene RIFs: 31   (req: <= 3)
Antibodies: 338   (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: 100.54   (req: >= 5)
Gene RIFs: 31   (req: > 3)
Antibodies: 338   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

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

Active Ligand: 0
Tclin

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

Active Drug: 0
GWAS Traits (26)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
chronotype measurement
2
5
3
1
94.2
glomerular filtration rate
4
4
4
87.4
circadian rhythm
5
3
3
1.1
83.6
red blood cell distribution width
2
2
2
68.8
platelet count
2
2
2
67.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
chronotype measurement
3
1
94.2
glomerular filtration rate
4
87.4
circadian rhythm
3
1.1
83.6
red blood cell distribution width
2
68.8
platelet count
2
67.4
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
aph-1 homolog A, gamma-secretase subunit
VGNC:91
457270
Macaque
aph-1 homolog A, gamma-secretase subunit
706483
Mouse
MGI:2385110
226548
Rat
RGD:1311546
365872
Dog
aph-1 homolog A, gamma-secretase subunit
VGNC:37984
100855839
Species
Name
OMA
EggNOG
Inparanoid
Chimp
aph-1 homolog A, gamma-secretase subunit
Macaque
aph-1 homolog A, gamma-secretase subunit
Mouse
Rat
Dog
aph-1 homolog A, gamma-secretase subunit
Protein Structure (5 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-Q96BI3-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 5
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 (43)
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 32
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activated NOTCH1 Transmits Signal to the Nucleus
Reactome
Amyloid fiber formation
Reactome
Axon guidance
Reactome
Cell death signalling via NRAGE, NRIF and NADE
Reactome
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Name
Explore in Pharos
Explore in Source
Activated NOTCH1 Transmits Signal to the Nucleus
Amyloid fiber formation
Axon guidance
Cell death signalling via NRAGE, NRIF and NADE
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Gene Ontology Terms (24)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Protein-Protein Interactions (73)
1 – 10 of 73
PSENEN
Tchem
Family:  Enzyme
Novelty:  0.00118125
Score:  0.999
Data Source:  Reactome,STRINGDB
PSEN1
Tchem
Family:  Enzyme
Novelty:  0.00024189
Score:  0.999
Data Source:  Reactome,STRINGDB
NCSTN
Tbio
Novelty:  0.00453935
Score:  0.999
Data Source:  Reactome,STRINGDB
PSEN2
Tchem
Family:  Enzyme
Novelty:  0.00112188
Score:  0.999
Data Source:  Reactome,STRINGDB
TMED10
Tbio
Novelty:  0.02742083
Score:  0.976
Data Source:  STRINGDB
NOTCH1
Tchem
Novelty:  0.00012547
Score:  0.973
Data Source:  STRINGDB
NOTCH2
Tchem
Novelty:  0.00195617
Score:  0.95
Data Source:  STRINGDB
NOTCH3
Tchem
Novelty:  0.000953
Score:  0.943
Data Source:  STRINGDB
DLL1
Tbio
Novelty:  0.00150384
Score:  0.941
Data Source:  STRINGDB
NOTCH4
Tchem
Novelty:  0.00471643
Score:  0.935
Data Source:  STRINGDB
Publication Statistics
PubMed Score  100.54

PubMed score by year
PubTator Score  83.91

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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