Dtnbp1 Gene Summary [Mouse]
Involved in several processes, including anterograde synaptic vesicle transport; regulation of JUN kinase activity; and regulation of secretion by cell. Acts upstream of or within several processes, including negative regulation of protein serine/threonine kinase activity; plasma membrane bounded cell projection organization; and platelet dense granule organization. Located in several cellular components, including dendritic spine; growth cone; and sarcolemma. Part of BLOC-1 complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and synaptic vesicle membrane. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 7; platelet storage pool deficiency; and schizophrenia. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Dtnbp1 |
| Official Name | dystrobrevin binding protein 1 [Source:MGI Symbol;Acc:MGI:2137586] |
| Ensembl ID | ENSMUSG00000057531 |
| Bio databases IDs | |
| Aliases | dystrobrevin binding protein 1 |
| Synonyms | 5430437B18Rik, BLOC1S8, DBND, DYSBINDIN, dystrobrevin binding protein 1, HPS7, My031, SDY |
| Species | Mouse, Mus musculus |
| 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 mouse Dtnbp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil domain
- Dysbindin (Dystrobrevin binding protein 1)
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- systemic lupus erythematosus
- bipolar disorder
- squamous-cell carcinoma
- squamous cell cancer
- hermansky-pudlak syndrome type 7
- vascular dementia
- Hermansky-Pudlak syndrome
role in cell
- expression in
- phosphorylation in
- outgrowth
- degradation in
- formation
- formation in
- signaling in
- surface area
- release
- conversion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- synaptic vesicle membrane
- glutaminergic synapse
- microtubule cytoskeleton
- Cytoplasm
- presynaptic regions
- perinuclear region
- Nucleus
- microtubules
- midbody
- cytoplasmic aggregates
- cytosol
- sarcoplasm
- endoplasmic reticulum membrane
- presynaptic membrane
- dendritic spines
- synaptic vesicles
- growth cone
- neurites
- nerve ending
- synaptosomes
- synapse
- sarcolemma
- early endosomes
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- primary dendritic arbors
- apical processes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Dtnbp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transmembrane transport
- regulation of dopamine secretion
- platelet dense granule organization
- negative regulation of dendritic spine morphogenesis
- anterograde axon cargo transport
- cilium morphogenesis
- neuron projection development
- retina development in camera-type eye
- positive regulation of receptor internalization
- neuron projection morphogenesis
- blood coagulation
- negative regulation of protein kinase activity
- memory
- regulation of dopamine receptor signaling pathway
- dendrite morphogenesis
- melanosome organization
- kidney development
- positive regulation of gene expression
- positive regulation of neurotransmitter secretion
- positive regulation of protein phosphorylation
- regulation of synaptic vesicle exocytosis
- actin cytoskeleton organization
- anterograde synaptic vesicle transport
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- BLOC-1 complex
- postsynaptic density
- microtubule cytoskeleton
- sarcoplasm
- neuronal cell body
- neuron projection
- plasma membrane
- growth cone
- endoplasmic reticulum membrane
- nucleus
- cytoplasm
- postsynaptic membrane
- sarcolemma
- dendritic spine
- cytosol
- endosome membrane
- synaptic vesicle membrane
- midbody
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding