APBB3 Gene Summary [Human]
The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | APBB3 |
| Official Name | amyloid beta precursor protein binding family B member 3 [Source:HGNC Symbol;Acc:HGNC:20708] |
| Ensembl ID | ENSG00000113108 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family B member 3 |
| Synonyms | amyloid beta precursor protein binding family B member 3, amyloid β precursor protein binding family B member 3, FE65L2, LOC100505798, Rirl2, SRA, TR2S |
| 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 APBB3 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 with 2 conserved Trp (W) residues
- WW
- protein binding
- low-density lipoprotein receptor binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- beta-amyloid binding
- WW domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- preeclampsia
role in cell
- activation in
- apoptosis
- cell cycle progression
- production in
- tyrosine phosphorylation 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
- intracellular membrane-bounded organelle
- cellular membrane
- actin cytoskeleton
- Nucleus
- cytosol
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBB3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription, DNA-dependent
- positive regulation of protein secretion
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasm
- membrane
- actin cytoskeleton
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- low-density lipoprotein particle receptor binding
- transcription factor binding
- beta-amyloid binding