UNC13B Gene Summary [Human]
This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | UNC13B |
| Official Name | unc-13 homolog B [Source:HGNC Symbol;Acc:HGNC:12566] |
| Ensembl ID | ENSG00000198722 |
| Bio databases IDs | |
| Aliases | unc-13 homolog B |
| Synonyms | LOC108168936, MUNC13, Munc13-1, Munc13-2, UNC13, Unc13a, Unc13h1, Unc13h2, unc-13 homolog B |
| 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 UNC13B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP-dependent protein binding
- calmodulin binding
- syntaxin-1 binding
- protein kinase C conserved region 1 (C1 domain) superfamily
- protein binding
- Protein kinase C conserved region 2 (CalB)
- non-kinase phorbol ester receptor
- MUN domain
- syntaxin binding
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- seizures
- Parkinson disease
- COVID-19
- cerebral cavernous malformation
role in cell
- fusion
- fusion in
- exocytosis
- disruption
- apoptosis
- disruption in
- development
- abnormal quantity
- electrophysiology
- priming
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
- presynaptic active zone
- glutaminergic synapse
- presynaptic regions
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- cytosol
- presynaptic membrane
- synaptic membrane
- neuromuscular junctions
- synapse
- synaptic-like microvesicles
- axon terminals
- presynaptic terminals
- ribbon synapse
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UNC13B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of synaptic vesicle priming
- synaptic vesicle docking involved in exocytosis
- synaptic vesicle priming
- cellular response to glucose stimulus
- positive regulation of apoptotic process
- synaptic transmission
- positive regulation of protein secretion
- positive regulation of inhibitory postsynaptic membrane potential
- acrosomal vesicle exocytosis
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- presynaptic active zone
- terminal button
- membrane
- cytosol
- Golgi apparatus
- neuromuscular junction
- synaptic vesicle membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- syntaxin-1 binding
- calcium ion binding
- small GTPase binding
- diacylglycerol binding
- phospholipid binding
- GTP-dependent protein binding