APBA1: Amyloid Beta Precursor Protein Binding Family A Member 1
A key adaptor protein in neuronal vesicle trafficking and Alzheimer's disease pathology
Gene Information Card
| Symbol | APBA1 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.12 |
| NCBI Gene ID | 320 ncbi.nlm.nih.gov/gene/320 |
| Ensembl ID | ENSG00000107282 |
| UniProt ID | Q02410 |
| OMIM ID | 602414 |
| HGNC ID | 578 |
| Aliases | MINT1, X11, X11A, D9S411E |
Description
APBA1 (Amyloid Beta Precursor Protein Binding Family A Member 1) encodes a member of the X11/Mint family of adaptor proteins. The protein contains a phosphotyrosine-binding (PTB) domain that interacts with the cytoplasmic tail of amyloid beta precursor protein (APP), as well as PDZ domains that mediate interactions with other synaptic proteins. APBA1 is involved in the regulation of APP processing, vesicle trafficking, and synaptic function. It is predominantly expressed in the brain and plays a role in the pathogenesis of Alzheimer's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APBA1 binds to APP and modulates its processing; altered expression may affect amyloid-beta production. | PMID: 10391931, 10970885 |
| Intellectual disability | Rare variants in APBA1 have been associated with neurodevelopmental phenotypes. | ClinVar: VCV000429496 |
| Schizophrenia | Genetic association studies have linked APBA1 polymorphisms to schizophrenia risk. | PMID: 15722948 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | High |
| Brain (hippocampus) | 12.8 | High |
| Testis | 3.1 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 9.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Unknown; reported in ClinVar as uncertain significance |
| c.1282G>A (p.Gly428Arg) | Missense | Rare | Unknown; reported in ClinVar as uncertain significance |
| c.1570C>T (p.Arg524Cys) | Missense | Rare | Unknown; reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar for APBA1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alzheimer disease - amyloid precursor protein processing (Reactome: R-HSA-977225)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
APBA1 (MINT1/X11 alpha) is a 711-amino acid adaptor protein with an N-terminal PTB domain and two C-terminal PDZ domains. It is highly expressed in the brain, where it localizes to synapses and axons. The PTB domain binds to the YENPTY motif of APP, regulating APP trafficking and processing. Through its PDZ domains, APBA1 interacts with presynaptic proteins such as neurexins and CASK, contributing to synaptic vesicle exocytosis. APBA1 is implicated in Alzheimer's disease by modulating amyloid-beta generation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBA1 Knockout HEK293 Cell Line | EDJ-KQ4061 | Human | 320 | Details Get a Quote |
| APBA1 Knockout HeLa Cell Line | EDJ-KQ52625 | Human | 320 | Details Get a Quote |
| APBA1 Knockout A-549 Cell Line | EDJ-KQ61101 | Human | 320 | Details Get a Quote |
| APBA1 Knockout HCT 116 Cell Line | EDJ-KQ69587 | Human | 320 | Details Get a Quote |
