UNC13A Gene Summary [Human]
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | UNC13A |
| Official Name | unc-13 homolog A [Source:HGNC Symbol;Acc:HGNC:23150] |
| Ensembl ID | ENSG00000130477 |
| Bio databases IDs | |
| Aliases | unc-13 homolog A |
| Synonyms | 2410078G03RIK, C630025L14, Munc13-1, Munc13-2, Unc13h1, unc-13 homolog A |
| 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 UNC13A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- calmodulin binding
- spectrin binding
- protein domain specific binding
- protein binding
- identical protein binding
- MUN domain
- syntaxin binding
- binding protein
- diacylglycerol binding
- syntaxin-1 binding
- protein kinase C conserved region 1 (C1 domain) superfamily
- Protein kinase C conserved region 2 (CalB)
- 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
- Alzheimer disease
- sporadic amyotrophic lateral sclerosis
- metastasis
- amyotrophic lateral sclerosis
- neurodevelopmental disorder
- benign prostatic hyperplasia
- susceptibility to amyotrophic lateral sclerosis
- frontotemporal dementia
- amyotrophic lateral sclerosis 1
- autism
regulates
- APP
- neurotransmitter
- insulin
- syntaxin 1
- Ins1
- Insulin
role in cell
- replenishment
- abnormal quantity
- priming
- abnormal morphology
- maturation
- release
- exocytosis by
- development
- docking
- transmission
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
- glutaminergic synapse
- proximal axon
- Cytoplasm
- presynaptic regions
- cellular membrane
- Golgi Apparatus
- cytoplasmic aggregates
- presynaptic membrane
- synaptic membrane
- neuromuscular junctions
- neurites
- synaptosomes
- synapse
- transport vesicles
- axons
- axon terminals
- presynaptic terminals
- ribbon synapse
- excitatory synapses
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UNC13A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic vesicle docking involved in exocytosis
- synaptic vesicle priming
- cell differentiation
- regulation of synaptic transmission, glutamatergic
- neurotransmitter secretion
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- presynaptic active zone
- terminal button
- neuromuscular junction
- synaptic vesicle membrane
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- calcium ion binding
- syntaxin-1 binding
- diacylglycerol binding
- phospholipid binding