ABI3BP
ABI Family Member 3 Binding Protein
Gene Information Card
| Symbol | ABI3BP |
|---|---|
| Full Name | ABI family member 3 binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 3q12.2 |
| NCBI Gene ID | 25890 ncbi.nlm.nih.gov/gene/25890 |
| Ensembl ID | ENSG00000144554 |
| UniProt ID | Q7Z5R6 |
| OMIM ID | 611302 |
| HGNC ID | 29580 |
| Aliases | TARSH, NESHBP, FLJ10980 |
Description
ABI3BP (ABI family member 3 binding protein) is a protein-coding gene located on chromosome 3q12.2. It encodes a protein that interacts with ABI3 (Abelson interactor family member 3) and is involved in cell migration, adhesion, and signaling. The gene is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Altered expression may affect cell adhesion and migration; potential tumor suppressor | Expression studies in tumor vs normal tissue (NCBI Gene, PubMed) |
| Breast cancer | Downregulation associated with poor prognosis; possible role in metastasis | Expression analysis and clinical correlation (NCBI Gene, PubMed) |
| Colorectal cancer | Reduced expression linked to tumor progression | Gene expression profiling (NCBI Gene, PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 10.1 | Medium |
| Heart | 6.7 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | Moderate expression |
| MCF7 (breast cancer) | 7.8 | Low expression |
| HCT116 (colorectal cancer) | 11.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.1% | Unknown functional impact |
| c.567delA | frameshift deletion | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift deletions and nonsense mutations predicted to truncate the protein, leading to loss of binding to ABI3 and impaired cell adhesion.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cell adhesion |
| • cell migration | • signal transduction |
| • cytoskeleton organization |
Pathways
• Integrin signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
The ABI3BP protein is a 120 kDa cytoplasmic protein that binds to ABI3, a member of the Abelson interactor family. It localizes to focal adhesions and regulates cell adhesion, migration, and cytoskeletal dynamics. The protein contains proline-rich regions and SH3-binding motifs, facilitating interactions with signaling molecules. It may function as a tumor suppressor in some cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABI3BP Knockout HEK293 Cell Line | EDJ-KQ8298 | Human | 25890 | 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 |
| ABI3BP Knockout HCT 116 Cell Line | EDJ-KQ72785 | Human | 25890 | Details Get a Quote |
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