APBA3 Gene Summary [Human]
The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | APBA3 |
| Official Name | amyloid beta precursor protein binding family A member 3 [Source:HGNC Symbol;Acc:HGNC:580] |
| Ensembl ID | ENSG00000011132 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family A member 3, X11-like 2 |
| Synonyms | amyloid beta precursor protein binding family A member 3, amyloid β precursor protein binding family A member 3, lin-10, MGC:15815, Mint-3, X11gamma, X11L2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APBA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- enzyme inhibitor activity
- canonical PDZ domain
- enzyme binding
- beta-amyloid binding
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- PDZ domain
- cpPDZ_Deg_HtrA-like
- cpPDZ_RseP_YlbL-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- hypoxia
- septic shock
- Waldenström macroglobulinemia
- lung injury
- endotoxin shock response
role in cell
- quantity
- activation in
- replication in
- expression in
- motility
- phosphorylation in
- production in
- growth
- glycolysis in
- transactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- Nucleus
- Golgi Apparatus
- perikaryon
- dendrites
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of catalytic activity
- in utero embryonic development
- protein transport
- regulation of gene expression
- synaptic transmission
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytoplasm
- dendritic spine
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- enzyme inhibitor activity
- beta-amyloid binding
- enzyme binding