ABI3 Gene (ABI Family Member 3)
A key regulator of actin cytoskeleton dynamics and cell migration, implicated in Alzheimer's disease and cancer.
Gene Information Card
| Symbol | ABI3 |
|---|---|
| Full Name | ABI family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 51225 ncbi.nlm.nih.gov/gene/51225 |
| Ensembl ID | ENSG00000108798 |
| UniProt ID | Q9P2A4 |
| OMIM ID | 606313 |
| HGNC ID | 11318 |
| Aliases | NESH, ABI-3, SSH3BP3 |
Description
ABI3 (ABI family member 3) encodes a protein that belongs to the Abelson interactor (ABI) family. It functions as a scaffold protein regulating actin cytoskeleton dynamics, cell migration, and signal transduction. ABI3 is involved in the formation of the WAVE regulatory complex, which controls actin polymerization. It is highly expressed in the brain and has been linked to Alzheimer's disease risk through genome-wide association studies. Additionally, altered expression is observed in various cancers, suggesting a role in tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | ABI3 variants (e.g., rs616338) are associated with increased risk; the protein modulates microglial function and amyloid-beta clearance. | GWAS (Lambert et al., 2013; Sims et al., 2017) |
| Breast cancer | ABI3 overexpression correlates with poor prognosis; promotes cell migration and invasion via actin remodeling. | Expression studies (e.g., TCGA) |
| Lung cancer | ABI3 upregulation in non-small cell lung cancer linked to metastasis and epithelial-mesenchymal transition. | Expression studies (e.g., GEO datasets) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Lung | 12.3 | Medium |
| Breast | 8.7 | Medium |
| Colon | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.2 | Neuronal model |
| MCF7 (breast cancer) | 22.8 | Luminal A subtype |
| A549 (lung cancer) | 18.5 | Adenocarcinoma |
| HEK293 (embryonic kidney) | 15.0 | Common overexpression system |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs616338 (p.Ser209Phe) | Missense | 0.02 (global) | Associated with increased Alzheimer's disease risk; may alter protein stability or interaction. |
| c.625C>T (p.Arg209Trp) | Missense | Rare | Reported in cancer samples; functional impact unknown. |
| c.1003_1004insA | Frameshift | Rare | Predicted loss-of-function; observed in COSMIC database. |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1003_1004insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for ABI3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 (actin binding) | • GO:0030036 (actin cytoskeleton organization) |
| • GO:0030833 (regulation of actin filament polymerization) | • GO:0043547 (positive regulation of GTPase activity) |
| • GO:0005886 (plasma membrane) | • GO:0005737 (cytoplasm) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• WAVE regulatory complex signaling (Reactome: R-HSA-5663205)
• Rac1 signaling pathway (Reactome: R-HSA-9013408)
Protein Summary
The ABI3 protein (also known as NESH) is a 366-amino-acid scaffold that interacts with ABL1 and WAVE complex components. It localizes to the cytoplasm and plasma membrane, where it regulates actin polymerization and cell motility. ABI3 is highly expressed in the brain and is implicated in microglial function. Its dysregulation contributes to Alzheimer's disease pathogenesis and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABI3BP Knockout HEK293 Cell Line | EDJ-KQ8298 | Human | 25890 | Details Get a Quote |
| ABI3 Knockout HEK293 Cell Line | EDJ-KQ10981 | Human | 51225 | Details Get a Quote |
| ABI3BP Knockout A-549 Cell Line | EDJ-KQ34263 | Human | 25890 | Details Get a Quote |
| ABI3BP Knockout HeLa Cell Line | EDJ-KQ55842 | Human | 25890 | Details Get a Quote |
| ABI3 Knockout HeLa Cell Line | EDJ-KQ56255 | Human | 51225 | Details Get a Quote |
| ABI3 Knockout A-549 Cell Line | EDJ-KQ64744 | Human | 51225 | Details Get a Quote |
| ABI3BP Knockout HCT 116 Cell Line | EDJ-KQ72785 | Human | 25890 | Details Get a Quote |
| ABI3 Knockout HCT 116 Cell Line | EDJ-KQ73189 | Human | 51225 | Details Get a Quote |
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