Recombinant Human Munc18-1 Protein (His & GST Tag)

Name: Recombinant Human Munc18-1 Protein (His & GST Tag)
Brand: Beta LifeScience
SKU: BLPSN-3422
Availability: InStock

Collections: Other recombinant proteins, Recombinant proteins

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Product Overview

Tag	His&GST
Host Species	Human
Accession	P61764
Synonym	MUNC18-1, NSEC1, P67, RBSEC1, UNC18
Background	Syntaxin-binding protein 1, also known as N-Sec1, Protein unc-18 homolog 1, MUNC18-1 and STXBP1, is a peripheral membrane protein which belongs to theSTXBP / unc-18 / SEC1 family. STXBP1 is an evolutionally conserved neuronal Sec1/Munc-18 (SM) protein that is essential in synaptic vesicle release in several species. It 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. It can interact with syntaxins 1, 2, and 3 but not syntaxin 4. STXBP1 may also play a role in determining the specificity of intracellular fusion reactions. 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.
Description	A DNA sequence encoding the human STXBP1 isoform 1 (P61764-1) (Met 1-Ser 594) was fused with the N-terminal His-tagged GST tag at the N-terminus.
Source	Baculovirus-Insect Cells
Predicted N Terminal	Met
AA Sequence	Met 1-Ser 594
Molecular Weight	The recombinant human STXBP1/GST chimera consists of 831 a.a. and has a calculated molecular mass of 95.4 kDa. It migrates as an approximately 80 kDa band in SDS-PAGE under reducing conditions.
Purity	>85% as determined by SDS-PAGE
Endotoxin	< 1.0 EU per μg of the protein as determined by the LAL method
Bioactivity	Please contact us for detailed information
Formulation	Lyophilized from sterile 20mM Tris, 500mM NaCl, 0.5mM PMSF, 10% gly, pH 8.0.
Stability	The recombinant proteins are stable for up to 1 year from date of receipt at -70°C.
Usage	For Research Use Only
Storage	Store the protein under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

Target Details

Target Function	Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.
Subcellular Location	Cytoplasm, cytosol. Membrane; Peripheral membrane protein.
Protein Families	STXBP/unc-18/SEC1 family
Database References	HGNC: 11444 OMIM: 602926 KEGG: hsa:6812 STRING: 9606.ENSP00000362399 UniGene: Hs.288229
Associated Diseases	Epileptic encephalopathy, early infantile, 4 (EIEE4)
Tissue Specificity	Brain and spinal cord. Highly enriched in axons.

Gene Functions References

This analysis provides strong evidence of DNA motif modulated mutagenesis for STXBP1 de novo splicing mutations. PMID: 29438995
Glucose-dependent de-SUMOylation of tomosyn1 at K298 releases syntaxin1A and controls the amplification of exocytosis in concert with a recently-identified tomosyn1-interacting partner; the Ca(2+)-binding protein secretagogin, which dissociates from tomosyn1 in response to Ca(2+)-raising stimuli and is required for insulin granule trafficking and exocytosis downstream of Ca(2+) influx. PMID: 28325894
Significant alterations in protein expression were identified in each neuronal ceroid lipofuscinoses (NCLs), including reduced STXBP1 in CLN1 disease brain. Given the confounding variable of post-mortem changes, additional validation is required, but this study provides a useful starting set of candidate NCL biomarkers for further evaluation. PMID: 28792770
Mutated STXBP1 gene associated with early-onset Epileptic Encephalopathy and severe psychomotor development retardation that occurs within 3 months of age. PMID: 29718889
Mutations in STXBP1 encoding the syntaxin binding protein 1 can produce a phenotype similar to that of KCNQ2 mutations PMID: 29067685
9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. PMID: 26395556
We report the case of a 19-month-old child with Ohtahara syndrome who displays a previously unreported mutation in STXBP1 This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein PMID: 25631041
We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation. PMID: 26384463
M18L was localized to presynaptic inhibitory terminals, and was associated with cognitive function and protection from dementia in an elderly PMID: 26628003
Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 in pluripotent stem cells from epileptic encephalopathy patient. PMID: 26918652
Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients. PMID: 26865513
de novo mutations in early-onset epilepsy PMID: 26514728
partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. PMID: 26280581
The case described suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy. PMID: 25714420
A de novo mutation in STXBP1 was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. Findings implicate a secondary impairment of mitochondrial function. PMID: 25418441
Epileptic encephalopathy related to mutations in the STXBP1 genes. PMID: 25818041
In vitro interaction assays indicated that Doc2b is required to bridge the interaction between Munc18c and Munc18-1 in the macromolecular complex; Munc18c and Munc18-1 failed to associate in the absence of Doc2b PMID: 25190515
STXBP1 gene mutation was found in 1 out of 11 patients PMID: 25008876
STXBP1 mutations associated with early epileptic encephalopathies. PMID: 24189369
Recruitment of STXBP1 by the Rab27A effector SYTL4 promotes Weibel-Palade body exocytosis. PMID: 24700782
GABRA1 and STXBP1 make a significant contribution to Dravet syndrome PMID: 24623842
this study described the clinical features of six new patients with an STXBP1 encephalopathy presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). PMID: 23409955
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. PMID: 22211739
Double knockdown of Munc18-1 and Munc18-2 in mast cells eliminates both IgE-dependent and ionomycin-induced degranulation and causes a significant reduction in syntaxin-11 without altering expressions of the other syntaxin isoforms examined. PMID: 23487749
Munc18-1 plays a key role in the dynamics of trans-SNARE complex assembly and/or stabilization, a process that is necessary for the docking of the outer acrosomal membrane to the plasma membrane and subsequent fusion pore opening. PMID: 23091057
mutation resulting in encephalopathy presenting as infantile spasms and generalized tremor PMID: 21762454
mutations found in early onset epileptic encephalopathy and Ohtahara syndrome PMID: 21770924
By combining this and previous study, 3 de novo truncating STXBP1 mutations in 145 sporadic non-syndromic intellectual disability (NSID) cases (~2%)have been identified. PMID: 21364700
two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively; first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy PMID: 21204804
Collectively, STXBP1 aberrations can account for about one-third individuals with EIEE (14 of 43). These genetic and biologic data clearly showed that haploinsufficiency of STXBP1 is the important cause for cryptogenic EIEE. PMID: 20887364
we summarize these recent advances and attempt to propose an updated model of the pleiotropic functions of Munc18-1 in neuroexocytosis--{REVIEW} PMID: 20681955
STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients. PMID: 20876469
Results identified syntaxin binding protein I that showed elevated levels of protein carbonyls in inferior parietal lobule (IPL) from subjects with mild cognitive impairment. PMID: 19686046
Describes cloning of mouse and human homologs of C. elegans UNC-18. PMID: 8824310
Munc18a acts through direct and indirect interactions with X11 proteins and powerfully regulates APP metabolism and Abeta secretion. PMID: 12016213
Ser-313, a Munc18-1 protein kinase C phosphorylation site, and Thr-574, a cyclin-dependent kinase 5 phosphorylation site, regulate Munc18-1/syntaxin1A interaction in HEK293-S3 and chromaffin cells PMID: 15489225
MUNC18-1 regulates early and late stages of exocytosis via syntaxin-independent protein interactions. PMID: 15563604
Mediates exocytosis and decreases beta-amyloid peptide formation in Alzheimer disease. PMID: 16413130
syntaxin1A possesses distinct inhibitory and stimulatory domains that interact with ENaC subunits, which critically determines the overall ENaC functionality/regulation under distinct physiological conditions PMID: 17200691
proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophreina and supports the view of a neuritic and synaptic dysfunction in the neuropathology PMID: 18268500
De novo mutations in the gene encoding STXBP1 cause early infantile epileptic encephalopathy. PMID: 18469812
Syntaxin 1 interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux. PMID: 18617632

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