APBA3: Amyloid Beta Precursor Protein Binding Family A Member 3
A key adaptor protein in vesicular trafficking and amyloid precursor protein processing
Gene Information Card
| Symbol | APBA3 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family A Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O96018 |
| OMIM ID | 604695 |
| HGNC ID | 580 |
| Aliases | MINT3, X11L2, D15S411E |
Description
APBA3 encodes a member of the X11/MINT family of adaptor proteins, which interact with the amyloid beta precursor protein (APP). The protein contains a phosphotyrosine-binding (PTB) domain and two PDZ domains, mediating protein-protein interactions involved in vesicular trafficking and signal transduction. APBA3 is ubiquitously expressed and plays a role in APP processing and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APBA3 binds APP and may modulate amyloid-beta production; altered expression linked to disease pathology | PMID: 10692421 |
| Intellectual disability | Rare variants in APBA3 associated with neurodevelopmental phenotypes | ClinVar: 604695 |
| Cancer (pancreatic) | APBA3 overexpression reported in pancreatic ductal adenocarcinoma; potential role in tumor progression | COSMIC: APBA3 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney |
| SH-SY5Y | 14.1 | Neuroblastoma |
| HeLa | 7.8 | Cervical carcinoma |
| MCF7 | 6.5 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.0002 | Unknown functional effect |
| c.452G>A (p.Arg151His) | Missense | 0.0001 | Reported in ClinVar as uncertain significance |
| c.788_789del (p.Leu263fs) | Frameshift | <0.0001 | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu263fs) predicted to truncate the protein, disrupting PDZ domains and APP binding.
Gain of Function (GOF)
No gain-of-function mutations reported in APBA3.
Dominant Negative (DN)
No dominant-negative mutations characterized for APBA3.
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)
Protein Summary
APBA3 (MINT3) is a 597-amino acid adaptor protein with an N-terminal PTB domain and two C-terminal PDZ domains. It binds the cytoplasmic tail of APP via its PTB domain and interacts with other proteins (e.g., CASK, KIF17) through PDZ domains. APBA3 localizes to the Golgi apparatus and endosomes, regulating APP trafficking and processing. It is ubiquitously expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBA3 Knockout HEK293 Cell Line | EDJ-KQ6633 | Human | 9546 | Details Get a Quote |
| APBA3 Knockout A-549 Cell Line | EDJ-KQ30887 | Human | 9546 | Details Get a Quote |
| APBA3 Knockout HCT 116 Cell Line | EDJ-KQ30888 | Human | 9546 | Details Get a Quote |
| APBA3 Knockout HeLa Cell Line | EDJ-KQ30889 | Human | 9546 | Details Get a Quote |
