APBB1 Gene Summary [Human]
The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
Details
| Type | Processed Transcript |
| Official Symbol | APBB1 |
| Official Name | amyloid beta precursor protein binding family B member 1 [Source:HGNC Symbol;Acc:HGNC:581] |
| Ensembl ID | ENSG00000166313 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family B member 1 |
| Synonyms | amyloid beta precursor protein binding family B member 1, AMYLOID precursor protein-binding family B, amyloid β precursor protein binding family B member 1, FE65, MGC:9072, RIR |
| 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 APBB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- protein interaction domain
- histone binding
- transcription regulator
- transcription co-activator
- transcription factor binding
- chromatin binding
- low-density lipoprotein receptor binding
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- beta-amyloid binding
- WW domain
- Domain with 2 conserved Trp (W) residues
- binding protein
- tau protein binding
- ligand-binding domain
- WW
Pathways
Biological processes and signaling networks where the APBB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- Alzheimer disease
- Parkinson disease
role in cell
- quantity
- apoptosis
- outgrowth
- cell death
- activation in
- expression in
- differentiation
- formation
- growth
- 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
- nuclear fraction
- membrane fraction
- glutaminergic synapse
- presynaptic regions
- perinuclear membrane
- perinuclear region
- Nucleus
- Plasma Membrane
- Endoplasmic Reticulum
- actin filaments
- cytosol
- presynaptic membrane
- postsynaptic membrane
- nucleoplasm
- dendritic spines
- synaptic vesicles
- neuromuscular junctions
- growth cone
- neurites
- synaptosomes
- synapse
- filopodia
- perikaryon
- postsynaptic density
- presynaptic terminals
- axonal shafts
- lamellipodia
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- regulation of transcription, DNA-dependent
- response to DNA damage stimulus
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- smooth muscle contraction
- positive regulation of transcription, DNA-dependent
- axonogenesis
- apoptotic process
- positive regulation of apoptotic process
- positive regulation of neuron projection development
- positive regulation of protein secretion
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- cytoplasm
- nuclear speck
- endoplasmic reticulum
- synapse
- plasma membrane
- lamellipodium
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- proline-rich region binding
- ubiquitin protein ligase binding
- low-density lipoprotein particle receptor binding
- protein binding
- transcription coactivator activity
- histone binding
- transcription factor binding
- chromatin binding
- beta-amyloid binding
- binding, bridging