STXBP5 Gene Summary [Human]

Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
STXBP5
Official Name
syntaxin binding protein 5 [Source:HGNC Symbol;Acc:HGNC:19665]
Ensembl ID
ENSG00000164506
Bio databases IDs NCBI: 134957 Ensembl: ENSG00000164506
Aliases syntaxin binding protein 5
Synonyms 0710001E20Rik, 4930565N16RIK, LGL3, LLGL3, LOC100507593, mKIAA1006, Nbla04300, syntaxin binding protein 5, syntaxin binding protein 5 (tomosyn), tomosyn, TOMOSYN-1
Species
Human, Homo sapiens
OrthologiesMouseRat

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 STXBP5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • syntaxin-1 binding
  • WD40
  • protein binding
  • SNARE motif
  • LLGL2
  • syntaxin binding

Pathways

Biological processes and signaling networks where the STXBP5 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
  • tuberculosis
  • venous thromboembolism
  • venous thrombosis
  • hypertension
  • idiopathic scoliosis
  • Alzheimer disease
  • coronary artery disease
  • ischemic stroke
  • bronchopulmonary dysplasia
  • tinnitus
regulated by
  • Immunoglobulin
  • AGT
  • PPARG
  • SYT9
  • ESRP1
  • Z-LLL-CHO
  • THZ531
  • ESRP2
  • VAMP2
  • 6-[3-(1-adamantyl)-4-hydroxyphenyl]-3-chloro-2-naphthalenecarboxylic acid
regulates
role in cell
  • binding in
  • development
  • priming
  • exocytosis by
  • membrane fusion
  • excitatory postsynaptic potential
  • paired-pulse facilitation
  • exocytosis
  • synaptic strength
  • long-term potentiation

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
  • cytosolic synaptosomal fraction
  • synaptic plasma membrane fractions
  • low-density microsomal fraction
  • presynaptic regions
  • postsynaptic region
  • cellular membrane
  • Plasma Membrane
  • cytosol
  • presynaptic membrane
  • synaptic vesicles
  • neuromuscular junctions
  • synapse
  • secretory granules
  • perikaryon
  • detergent-soluble fraction
  • synaptic vesicle fractions
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human STXBP5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of synaptic vesicle priming
  • protein transport
  • regulation of synaptic vesicle exocytosis
  • Golgi to plasma membrane transport
  • regulation of exocytosis
  • exocytosis
  • positive regulation of exocytosis

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • synaptic vesicle
  • SNARE complex
  • cytosol
  • acetylcholine-gated channel complex
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • syntaxin binding
  • syntaxin-1 binding
  • GTPase activator activity
  • myosin II binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.