HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
APBA1
amyloid beta precursor protein binding family A member 1
Chromosome 9 · 9q21.12
NCBI Gene: 320Ensembl: ENSG00000107282.9HGNC: HGNC:578UniProt: Q02410
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein bindingidentical protein bindingamyloid-beta bindingneurodegenerative diseasemathematical abilityintelligenceadolescent idiopathic scoliosis
✦AI Summary

APBA1 (amyloid beta precursor protein binding family A member 1) is a neuronal adaptor protein that plays critical roles in synaptic function and APP metabolism. The protein functions in synaptic vesicle exocytosis by binding to Munc18-1, and participates in the LIN-10-LIN-2-LIN-7 complex for NMDA receptor trafficking along microtubules 1. APBA1 directly interacts with amyloid precursor protein (APP) and overexpression reduces amyloid-β (Aβ) generation, ameliorating memory deficits in Alzheimer's disease models 1. Transcription of APBA1 is regulated by the Sp3 transcription factor, with Sp3 inhibition reducing endogenous X11α expression and promoting Aβ generation 1. Beyond Alzheimer's disease, emerging evidence indicates APBA1 mutations contribute to adult-onset obesity through disrupted synaptic communication in feeding circuits 234. Rare loss-of-function variants in APBA1 confer substantial obesity risk and show significant ancestral heterogeneity 4. APBA1 expression is altered in type 2 diabetes, with significant downregulation observed across diabetes populations 5. The protein is also involved in cognitive functioning and is regulated by HIV-Tat in the context of neuroAIDS pathogenesis 67. These findings position APBA1 as a multifunctional synaptic protein bridging neurodegeneration, metabolic dysfunction, and cognitive impairment.

Sources cited
1
APBA1 (X11α) interacts with APP, overexpression reduces Aβ generation and ameliorates memory deficits in Alzheimer's disease models; Sp3 transcription factor regulates APBA1 promoter activity in neurons
PMID: 22136355
2
Rare protein-truncating variants in APBA1 associated with severe adult-onset obesity with effects larger than established obesity genes; variants implicate synaptic dysfunction in obesity etiology
PMID: 38575728
3
APBA1 variants in synaptic genes disrupt feeding circuit communication, elevating obesity risk and illustrating synaptic integrity's influence on food intake regulation
PMID: 41009961
4
APBA1 identified as obesity-associated gene conferring three-fold risk for severe obesity; shows significant ancestral heterogeneity in effects
PMID: 41168175
5
APBA1 significantly downregulated in type 2 diabetes participants; differential expression associated with smoking and gender factors
PMID: 36331813
6
APBA1 is a brain-expressed gene associated with cognitive abilities and cognitive functioning
PMID: 33659785
7
HIV-Tat regulates APBA1/Mint1 expression in macrophages; increased APBA1 expression contributes to neuropathogenesis in HIV-infected people
PMID: 28640909
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
mathematical abilityOpen Targets
0.31Weak
intelligenceOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.27Weak
response to antihypertensive drugOpen Targets
0.24Weak
connective tissue diseaseOpen Targets
0.23Weak
drug allergyOpen Targets
0.21Weak
schizophreniaOpen Targets
0.19Weak
injuryOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
ParagangliomaOpen Targets
0.03Suggestive
pheochromocytoma/paraganglioma syndrome 6Open Targets
0.03Suggestive
depressive disorderOpen Targets
0.03Suggestive
major salivary gland cancerOpen Targets
0.03Suggestive
obesityOpen Targets
0.02Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.02Suggestive
trauma complicationOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STXBP1Protein interaction100%CASKProtein interaction100%APBB1Protein interaction99%KIF17Protein interaction98%APBB2Protein interaction93%LIN7BProtein interaction93%
Tissue Expression6 tissues
Brain
100%
Liver
83%
Ovary
43%
Heart
32%
Lung
6%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
APBA1STXBP1CASKAPBB1KIF17APBB2LIN7B
PROTEIN STRUCTURE
Preparing viewer…
PDB1AQC · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.61–0.98]
RankingsWhere APBA1 stands among ~20K protein-coding genes
  • #7,039of 20,598
    Most Researched66
  • #9,317of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedAPBA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic organization and promoter cloning of the human X11α gene APBA1.
PMID: 22136355
DNA Cell Biol · 2012
1.00
2
Obesity and the Genome: Emerging Insights from Studies in 2024 and 2025.
PMID: 41009961
Genes (Basel) · 2025
0.90
3
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
PMID: 38575728
Nat Genet · 2024
0.80
4
Discovery of obesity genes through cross-ancestry analysis.
PMID: 41168175
Nat Commun · 2025
0.70
5
Friedreich ataxia: an overview.
PMID: 10633128
J Med Genet · 2000
0.60