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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APH1A
aph-1A gamma-secretase subunit
Chromosome 1 · 1q21.2
NCBI Gene: 51107Ensembl: ENSG00000117362.14HGNC: HGNC:29509UniProt: B4DUG7
86PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein-macromolecule adaptor activityprotein bindingendopeptidase activator activityDesmoid-type fibromatosisneoplasmAlzheimer diseaseParkinson disease
✦AI Summary

APH1A encodes a non-catalytic subunit essential for gamma-secretase complex assembly and function. The gamma-secretase complex is an endoprotease that catalyzes intramembrane cleavage of integral membrane proteins, including Notch receptors and amyloid precursor protein (APP) 1. APH1A is required for normal gamma-secretase assembly, with the complex consisting of presenilin, nicastrin, PEN-2, and APH1A subunits 1. The protein undergoes regulatory phosphorylation by GPCR kinases, which generates distinct phosphorylation patterns that differentially regulate β-arrestin 2 recruitment and amyloid-β generation 2. APH1A serves as a direct target of microRNA-138, which acts as a tumor suppressor by inhibiting the NOTCH1 pathway in renal cell carcinoma 3. The gamma-secretase complex containing APH1A plays crucial roles in Notch and Wnt signaling cascades, with selective inhibition of specific gamma-secretase subcomplexes being explored as therapeutic targets 4. Recent studies suggest APH1A may represent a druggable target for chr1 obstructive pulmonary disease treatment 5. Under physiological conditions, endogenous APH1A does not undergo proteasomal degradation, though overexpressed forms may be artifactually degraded 6.

Sources cited
1
APH1A is essential for gamma-secretase complex assembly and the complex catalyzes intramembrane cleavage of Notch and APP
PMID: 17047368
2
GPCR kinases phosphorylate APH1A creating phosphorylation patterns that regulate β-arrestin 2 recruitment and amyloid-β generation
PMID: 35858570
3
APH1A is a direct target of tumor suppressor microRNA-138 in the NOTCH1 pathway regulation in renal cell carcinoma
PMID: 36973704
4
Selective inhibition of gamma-secretase subcomplexes containing APH1A is being explored as therapeutic approach
PMID: 37164155
5
APH1A identified as potential druggable target for chronic obstructive pulmonary disease treatment
PMID: 38660492
6
Endogenous APH1A does not undergo proteasomal degradation under physiological conditions
PMID: 16302845
Disease Associationsⓘ20
Desmoid-type fibromatosisOpen Targets
0.48Moderate
neoplasmOpen Targets
0.41Moderate
Alzheimer diseaseOpen Targets
0.40Moderate
Parkinson diseaseOpen Targets
0.26Weak
multiple myelomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
circadian rhythmOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
breast neoplasmOpen Targets
0.07Suggestive
clear cell renal carcinomaOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
Fallopian Tube CarcinomaOpen Targets
0.07Suggestive
malignant colon neoplasmOpen Targets
0.07Suggestive
ovarian carcinomaOpen Targets
0.07Suggestive
rectum cancerOpen Targets
0.07Suggestive
atopic eczemaOpen Targets
0.07Suggestive
Abnormality of refractionOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets7
AVAGACESTATPhase II
Gamma-secretase inhibitor
Alzheimer disease
BEGACESTATPhase I
Gamma-secretase inhibitor
Alzheimer disease
NIROGACESTATApproved
Gamma-secretase inhibitor
NIROGACESTAT HYDROBROMIDEApproved
Gamma-secretase inhibitor
RG-4733Phase II
Gamma-secretase inhibitor
breast cancer
SEMAGACESTATPhase III
Gamma-secretase inhibitor
Parkinson disease
TARENFLURBILPhase III
Gamma-secretase modulator
Alzheimer disease
Related Genes
TMED10Protein interaction98%MMEL1Protein interaction89%APPProtein interaction85%SLC25A20Protein interaction84%RHBDL2Protein interaction83%TNFProtein interaction80%
Tissue Expression6 tissues
Liver
100%
Lung
78%
Heart
65%
Ovary
65%
Bone Marrow
63%
Brain
50%
Gene Interaction Network
Click a node to explore
APH1ATMED10MMEL1APPSLC25A20RHBDL2TNF
PROTEIN STRUCTURE
Preparing viewer…
PDB8KCS · 2.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.53 [0.36–0.81]
RankingsWhere APH1A stands among ~20K protein-coding genes
  • #5,529of 20,598
    Most Researched86
  • #615of 1,025
    FDA-Approved Drug Targets2
  • #6,735of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedAPH1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mendelian randomization analysis identifies druggable genes and drugs repurposing for chronic obstructive pulmonary disease.
PMID: 38660492
Front Cell Infect Microbiol · 2024
1.00
2
Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins.
PMID: 16302845
Biochem J · 2006
0.90
3
Selective inhibitors of the PSEN1-gamma-secretase complex.
PMID: 37164155
J Biol Chem · 2023
0.80
4
GPCR kinases generate an APH1A phosphorylation barcode to regulate amyloid-β generation.
PMID: 35858570
Cell Rep · 2022
0.70
5
HES1-mediated down-regulation of miR-138 sustains NOTCH1 activation and promotes proliferation and invasion in renal cell carcinoma.
PMID: 36973704
J Exp Clin Cancer Res · 2023
0.60