Tbio APH1A Gamma-secretase subunit APH-1A

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-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]

Uniprot Accession IDs

• Q96BI3
• B4DQK0
• Q5TB22
• Q5TB23
• Q969R6
• Q9BVG0
• Q9Y386
• APH-1a

Gene Name

• APH1A

Ensembl ID

• ENST00000360244
• ENSP00000353380
• ENSG00000117362
• ENST00000369109
• ENSP00000358105
• ENST00000414276
• ENSP00000397473

Symbol

• PSF
• APH-1
• APH-1A
• CGI-78
• 6530402N02Rik

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

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / Gamma-secretase Subunit Aph-1a

DTO Classes

Protein / Enzyme Modulator / Gamma-secretase Subunit Aph-1a

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: 126.12   (req: < 5)

Gene RIFs: 32   (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: 126.12   (req: >= 5)

Gene RIFs: 32   (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