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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APBA3
amyloid beta precursor protein binding family A member 3
Chromosome 19 · 19p13.3
NCBI Gene: 9546Ensembl: ENSG00000011132.13HGNC: HGNC:580UniProt: O96018
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of catalytic activityprotein bindingenzyme bindingenzyme inhibitor activityplacenta praevianeoplasmcancertriple-negative breast cancer
✦AI Summary

APBA3 (amyloid beta precursor protein binding family A member 3) is a cytoplasmic protein that functions as a modulator of amyloid-beta precursor protein (APP) processing and cellular metabolism. The protein contains phosphotyrosine interaction and PDZ domains enabling protein-protein interactions 1. APBA3 enhances hypoxia-inducible factor-1 (HIF-1) activity in macrophages by binding to and inhibiting factor inhibiting HIF-1 (FIH-1), thereby suppressing FIH-1's ability to modify HIF-1α and maintaining ATP production via glycolysis 2. This HIF-1 regulatory function is critical for macrophage metabolic function, as knockdown of APBA3 reduces glycolysis and ATP production 2. In Alzheimer's disease pathology, APBA3 expression is altered in choroid plexus tissue and is downregulated in neurons exposed to beta-amyloid in the presence of sensitizing nicotinic receptors, suggesting involvement in early-stage Aβ-induced neurotoxicity 34. Additionally, DNA methylation of APBA3 is dysregulated in borderline personality disorder and correlates with psychotherapy response, identifying it as a potential epigenetic biomarker for treatment outcomes 5. Hypertension-associated changes in APBA3 expression in aging hippocampus may contribute to late-onset Alzheimer's disease pathogenesis 6.

Sources cited
1
APBA3 is a member of the X11 protein family with three protein-protein interaction domains (PID and two PDZ domains) that interacts with APP
PMID: 10574372
2
APBA3/Mint3 binds FIH-1 and inhibits its ability to modify HIF-1α, enhancing HIF-1 activity and maintaining ATP production via glycolysis in macrophages
PMID: 19726677
3
APBA3 expression is increased in choroid plexus of Alzheimer's disease patients, implicating it as a neurodegenerative gene in AD
PMID: 30541599
4
APBA3 is downregulated in neurons treated with beta-amyloid in the presence of nicotinic receptors, linking it to early-stage Aβ-induced neurotoxicity
PMID: 32231242
5
APBA3 DNA methylation status predicts response to Dialectical Behavior Therapy in borderline personality disorder patients
PMID: 29274998
6
APBA3 expression changes in aging hippocampus in response to hypertension may contribute to late-onset Alzheimer's disease pathogenesis
PMID: 23955715
7
APBA3 shows significantly increased DNA methylation (1.1 fold) at CpG sites in blood of borderline personality disorder patients
PMID: 24367640
8
APBA3/Mint3 inhibits FIH-1 through a non-proteolytic mechanism mediated by MT1-MMP, supporting ATP production in macrophages
PMID: 20663879
Disease Associationsⓘ20
placenta praeviaOpen Targets
0.18Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.04Suggestive
hemangioma of subcutaneous tissueOpen Targets
0.04Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.03Suggestive
listeriosisOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
Borderline personality disorderOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
ovarian dysfunctionOpen Targets
0.01Suggestive
pneumoniaOpen Targets
0.01Suggestive
influenzaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
fibrosarcomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APPProtein interaction96%XPNPEP2Protein interaction96%STXBP1Protein interaction92%HIF1ANProtein interaction84%NECAB3Protein interaction72%ACP1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Liver
96%
Lung
86%
Brain
42%
Bone Marrow
27%
Heart
27%
Gene Interaction Network
Click a node to explore
APBA3APPXPNPEP2STXBP1HIF1ANNECAB3ACP1
PROTEIN STRUCTURE
Preparing viewer…
PDB5UWS · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.76–1.24]
RankingsWhere APBA3 stands among ~20K protein-coding genes
  • #9,832of 20,598
    Most Researched42
  • #13,043of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedAPBA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic organization of the human X11L2 gene (APBA3), a third member of the X11 protein family interacting with Alzheimer's beta-amyloid precursor protein.
PMID: 10574372
Neuroreport · 1999
1.00
2
DNA methylation of APBA3 and MCF2 in borderline personality disorder: Potential biomarkers for response to psychotherapy.
PMID: 29274998
Eur Neuropsychopharmacol · 2018
0.90
3
Transcriptome Profile of Nicotinic Receptor-Linked Sensitization of Beta Amyloid Neurotoxicity.
PMID: 32231242
Sci Rep · 2020
0.80
4
Choroid plexus genes for CSF production and brain homeostasis are altered in Alzheimer's disease.
PMID: 30541599
Fluids Barriers CNS · 2018
0.70
5
Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1.
PMID: 19726677
J Biol Chem · 2009
0.60