APBA1 Gene Summary [Human]
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | APBA1 |
| Official Name | amyloid beta precursor protein binding family A member 1 [Source:HGNC Symbol;Acc:HGNC:578] |
| Ensembl ID | ENSG00000107282 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family A member 1 |
| Synonyms | 6430513E09RIK, amyloid beta precursor protein binding family A member 1, AMYLOID precursor protein-binding family A, amyloid β precursor protein binding family A member 1, D9S411E, LIN10, Mint, MINT1, Urop11, X11, X11A, X11ALPHA |
| 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 APBA1 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
- munc-18 binding domain
- protein kinase binding
- canonical PDZ domain
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- beta-amyloid binding
- PDZ domain
- Stxbp1 binding domain
- PDZ-domain binding
- binding protein
- CASK binding domain
- phosphatidylinositol-4,5-bisphosphate binding
- cpPDZ_Deg_HtrA-like
- PDZ binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- ataxia
- Alzheimer disease
- idiopathic scoliosis
- Waldenström macroglobulinemia
- tinnitus
role in cell
- migration
- expression in
- morphology
- activity
- accumulation in
- adhesion
- endocytosis by
- transmission
- binding in
- paired-pulse facilitation
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
- membrane fraction
- glutaminergic synapse
- intracellular compartment
- intracellular space
- perinuclear region
- cellular membrane
- Plasma Membrane
- vesicles
- Golgi Apparatus
- cytosol
- presynaptic membrane
- trans face of the Golgi apparatus
- dendritic spines
- synaptic vesicles
- synaptosomes
- synapse
- perikaryon
- axons
- dendrites
- dendritic shafts
- detergent-soluble fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- glutamate secretion
- macromolecular complex assembly
- axon cargo transport
- nervous system development
- gamma-aminobutyric acid secretion
- synaptic transmission
- cell adhesion
- intracellular protein transport
- locomotory behavior
- in utero embryonic development
- regulation of gene expression
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- synaptic vesicle
- dendritic spine
- cytosol
- Golgi apparatus
- presynaptic active zone membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- beta-amyloid binding