STXBP1

STXBP1 may participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins.STXBP1 is essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. STXBP1 can interact with syntaxins 1, 2, and 3 but not syntaxin 4. STXBP1 may play a role in determining the specificity of intracellular fusion reactions.

STXBP1 Related Areas

Neuroscience>>Synaptic Protein>>STXBP1

STXBP1 Alternative Names

STXBP1, RP11-56D16.3, FLJ37475, MUNC18-1, NSEC1, P67, RBSEC1, UNC18 [Homo sapiens]

Stxbp1, RP23-17P12.13-003, AI317162, AI326233, MMS10-G, Ms10g, Munc-18a, Munc18-1, N-sec1, Rb-sec1, Sxtbp1, Unc18-1, Unc18h, nsec1 [Mus musculus]

Summaries for STXBP1

Entrez Gene summary for STXBP1:

STXBP1 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]

Wikipedia summary for STXBP1:

Syntaxin-binding protein 1 is a protein that in humans is encoded by the STXBP1 gene.
In melanocytic cells STXBP1 gene expression may be regulated by MITF.

Human STXBP1 Protein General Information

 

• Protein names: Syntaxin-binding protein 1
  Short name=STXBP1
• Sequence length: 594 AA.
• Sequence similarities: Belongs to the STXBP/unc-18/SEC1 family.
• Subunit structure: Binds SYTL4 . Interacts with STX1A.
• Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein.
• Tissue specificity: Brain and spinal cord. Highly enriched in axons.
• Involvement in disease: Defects in STXBP1 are the cause of epileptic encephalopathy early infantile type 4 (EIEE4) . Affected individuals have neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination.

General information above from UniProt

Function for STXBP1 Protein

UniProtKB:

STXBP1 may participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins.STXBP1 is essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. STXBP1 can interact with syntaxins 1, 2, and 3 but not syntaxin 4. STXBP1 may play a role in determining the specificity of intracellular fusion reactions.

Genatlas:

• STXBP1 is soluble N ethylmaleimide-sensitive factor-attachment protein receptor, SNARE protein, involved in neurotransmission
• STXBP1 regulates synaptic vesicle release, at least in part, by binding to syntaxin 1A (STX1A) as well as to the SNARE complex directly
• STXBP1 is expressed in an estrogen-dependent manner, plays an important role in the onset of female puberty via the regulation of glutamate release
• STXBP1 participates in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins
• STXBP1 is involved in the regulation of SNARE complex-dependent membrane fusion events implicated in the ramification of axonal processes in neurons
• STXBP1 may play a role in determining the specificity of intracellular fusion reactions
• STXBP1 controls multiple stages of exocytosis via both syntaxin-dependent and -independent protein interactions
• STXBP1 plays a positive role in regulated insulin secretion from pancreatic beta cells
• STXBP1 has a chaperone function in neurons, promoting anterograde transport of the plasma membrane soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) protein Syntaxin-1
• STXBP1 acts as a molecular chaperone for Syntaxin transport in neurons and the two modes of STXBP1 binding to Syntaxin are involved in different aspects of STXBP1 function
• STXBP1 controls the accessibility of STX1A to its partners, a role that might be common to all SM proteins (Sec1/Munc18-like)
• STXBP1 participates in the establishment of the membrane fusion pore, a step that is thought to occur after complete zipping of the SNARE complex
• STXBP1 acts at specific steps of intracellular membrane transport

Homology for human STXBP1

• homolog to rattus Stxbp1 (100 pc)
• homolog to murine Stxbp1 (99.5 pc)
• homolog to C.Elegans Unc

Phenotype Information for STXBP1

• Gene/Locus: STXBP1, UNC18, EIEE4
• Phenotype: Epileptic encephalopathy, early infantile, 4

Phenotype Information for STXBP1 from OMIM (Online Mendelian Inheritance in Man)