STXBP1 Gene Summary [Human]
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | STXBP1 |
| Official Name | syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444] |
| Ensembl ID | ENSG00000136854 |
| Bio databases IDs | |
| Aliases | syntaxin binding protein 1, syntaxin-binding protein 1 |
| Synonyms | ANC18HA, DEE4, MMS10-G, Ms10g, MUNC18-1, Munc-18a, NSEC1, NSEC1A, P67, RBSEC1, rbSec1A, rbSec1B, Rsly1, Sxtbp1, syntaxin binding protein 1, UNC18, Unc18-1, unc-18A, Unc18h |
| 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 STXBP1 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
- protein kinase binding
- syntaxin-1 binding
- enzyme binding
- protein domain specific binding
- protein binding
- Sec1 family
- identical protein binding
- transporter
- syntaxin binding
Pathways
Biological processes and signaling networks where the STXBP1 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
- Ohtahara syndrome
- epithelial cancer
- early infantile epileptic encephalopathy type 4
- syndromic infantile epilepsy
- prostate cancer
- hereditary disorder
- lung adenocarcinoma
- lung adenocarcinoma formation
- neurodevelopmental disorder
- Alzheimer disease
role in cell
- expression in
- cell death
- apoptosis
- cell viability
- morphology
- abnormal morphology
- maturation
- accumulation
- fusion
- degranulation
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
- myelin enriched fraction
- soluble fraction
- membrane fraction
- glutaminergic synapse
- presynaptic regions
- perinuclear region
- postsynaptic region
- Plasma Membrane
- Mitochondria
- cytoplasmic particles
- cytosol
- nucleoplasm
- alpha granules
- synaptic vesicles
- synaptosomes
- dense-core vesicles
- membrane processes
- axons
- excitatory synapses
- clathrin-coated vesicles
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STXBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of mast cell degranulation
- regulation of SNARE complex assembly
- neuromuscular synaptic transmission
- intracellular protein transport
- axon target recognition
- negative regulation of neuron apoptotic process
- platelet degranulation
- developmental process involved in reproduction
- negative regulation of synaptic transmission, GABAergic
- vesicle-mediated transport
- negative regulation of protein complex assembly
- regulation of synaptic vesicle fusion to presynaptic membrane
- long term synaptic depression
- platelet aggregation
- neuron apoptotic process
- SNARE complex assembly
- positive regulation of calcium ion-dependent exocytosis
- neurotransmitter secretion
- regulation of synaptic vesicle priming
- synaptic vesicle priming
- vesicle docking involved in exocytosis
- response to estradiol stimulus
- synaptic vesicle maturation
- cellular response to interferon-gamma
- protein stabilization
- protein localization in plasma membrane
- regulation of acrosomal vesicle exocytosis
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule
- secretory granule
- phagocytic vesicle
- presynaptic active zone membrane
- plasma membrane
- nucleoplasm
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- cytoplasm
- mitochondrion
- cytosol
- macromolecular complex
- axon
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein domain specific binding
- identical protein binding
- protein binding
- RNA binding
- syntaxin binding
- syntaxin-1 binding
- phospholipase binding
- SNARE binding