Property Summary

NCBI Gene PubMed Count 74
PubMed Score 208.03
PubTator Score 142.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Disease log2 FC p
astrocytoma -2.000 8.0e-21
ependymoma -2.700 1.8e-20
psoriasis 1.900 5.1e-05
glioblastoma -3.200 5.9e-04
oligodendroglioma -1.800 4.2e-15
atypical teratoid / rhabdoid tumor -3.700 5.2e-11
sonic hedgehog group medulloblastoma -1.700 2.6e-05
medulloblastoma, large-cell -1.900 6.4e-06
primitive neuroectodermal tumor -1.500 9.9e-04
non-small cell lung cancer -1.236 4.5e-09
intraductal papillary-mucinous adenoma (... -1.700 1.9e-02
colon cancer 2.300 3.6e-02
lung cancer -2.000 1.2e-05
active Crohn's disease 2.642 1.5e-03
active ulcerative colitis 2.687 6.4e-03
pediatric high grade glioma -2.600 9.9e-09
pilocytic astrocytoma -2.100 5.3e-12
subependymal giant cell astrocytoma -2.590 2.1e-02
invasive ductal carcinoma -1.500 8.5e-03
Pick disease -1.700 1.1e-02
ductal carcinoma in situ -1.700 1.1e-04
ovarian cancer -1.600 2.9e-07

Gene RIF (44)

PMID Text
26918652 Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 in pluripotent stem cells from epileptic encephalopathy patient.
26865513 Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients.
26628003 M18L was localized to presynaptic inhibitory terminals, and was associated with cognitive function and protection from dementia in an elderly
26514728 de novo mutations in early-onset epilepsy
26280581 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.
25818041 Epileptic encephalopathy related to mutations in the STXBP1 genes.
25714420 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.
25496667 Genome-wide shRNA screening identifies STXBP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells
25418441 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.
25190515 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
25008876 STXBP1 gene mutation was found in 1 out of 11 patients
24700782 Recruitment of STXBP1 by the Rab27A effector SYTL4 promotes Weibel-Palade body exocytosis.
24623842 GABRA1 and STXBP1 make a significant contribution to Dravet syndrome
24189369 STXBP1 mutations associated with early epileptic encephalopathies.
23898208 Genome-wide shRNA screening identifies STXBP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells
23858467 N-peptide and LE mutation have no effect on the global conformation of the Munc18a-Syx1a complex.
23487749 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.
23409955 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%).
23091057 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.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22211739 Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.
21770924 mutations found in early onset epileptic encephalopathy and Ohtahara syndrome
21762454 mutation resulting in encephalopathy presenting as infantile spasms and generalized tremor
21669024 Exocytotic dysfunctions in schizophrenia are probably related to an imbalance of the interaction between munc18-1a and SNARE (mainly syntaxin-1A) complex.
21364700 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.
21204804 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
20887364 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.
20876469 STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients.
20681955 we summarize these recent advances and attempt to propose an updated model of the pleiotropic functions of Munc18-1 in neuroexocytosis--{REVIEW}
20471030 This protein has been found differentially expressed in thalami from patients with schizophrenia.
19686046 Results identified syntaxin binding protein I that showed elevated levels of protein carbonyls in inferior parietal lobule (IPL) from subjects with mild cognitive impairment.
19557857 Observational study of gene-disease association. (HuGE Navigator)
18854154 Knockdown of syntaxin binding protein 1 (STXBP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18617632 Syntaxin 1 interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux.
18469812 De novo mutations in the gene encoding STXBP1 cause early infantile epileptic encephalopathy.
18268500 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
17264080 analysis of the spatially distinct modes of munc18-syntaxin 1 interaction
17200691 syntaxin1A possesses distinct inhibitory and stimulatory domains that interact with ENaC subunits, which critically determines the overall ENaC functionality/regulation under distinct physiological conditions
16413130 Mediates exocytosis and decreases beta-amyloid peptide formation in Alzheimer disease.
15563604 MUNC18-1 regulates early and late stages of exocytosis via syntaxin-independent protein interactions.
15489225 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
15175344 Syntaxin/Munc18 interactions in the late events during vesicle fusion and release in exocytosis
12016213 Munc18a acts through direct and indirect interactions with X11 proteins and powerfully regulates APP metabolism and Abeta secretion.
8824310 Describes cloning of mouse and human homologs of C. elegans UNC-18.

AA Sequence

MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPS      1 - 70
LEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPY     71 - 140
ESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLD    141 - 210
AYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVL    211 - 280
LDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHL    281 - 350
AEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITE    351 - 420
ENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTI    421 - 490
EDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQAN    491 - 560
GKWEVLIGSTHILTPQKLLDTLKKLNKTDEEISS                                        561 - 594
//

Text Mined References (79)

PMID Year Title
26918652 2016 Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
26628003 2015 Loss of Munc18-1 long splice variant in GABAergic terminals is associated with cognitive decline and increased risk of dementia in a community sample.
26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
26280581 2015 Analysis of conditional heterozygous STXBP1 mutations in human neurons.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
25418441 2015 A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.
25416956 2014 A proteome-scale map of the human interactome network.
25190515 2014 Doc2b serves as a scaffolding platform for concurrent binding of multiple Munc18 isoforms in pancreatic islet ?-cells.
25008876 2014 [STXBP1 gene mutation in newborns with refractory seizures].
24700782 2014 STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a.
24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
24189369 2014 Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
24170257 2014 A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
23858467 2013 Syntaxin1a variants lacking an N-peptide or bearing the LE mutation bind to Munc18a in a closed conformation.
23487749 2013 Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.
23409955 2013 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23091057 2012 Munc18-1 controls SNARE protein complex assembly during human sperm acrosomal exocytosis.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
22211739 2012 Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.
21770924 2011 Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
21669024 2012 Regulation of munc18-1 and syntaxin-1A interactive partners in schizophrenia prefrontal cortex: down-regulation of munc18-1a isoform and 75 kDa SNARE complex after antipsychotic treatment.
21364700 2011 Intellectual disability without epilepsy associated with STXBP1 disruption.
21269460 2011 Initial characterization of the human central proteome.
21204804 2010 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
20876469 2010 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
20681955 2010 Munc18-1 as a key regulator of neurosecretion.
20471030 2010 Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
19748891 2010 Munc18/Syntaxin interaction kinetics control secretory vesicle dynamics.
19686046 2010 Redox proteomic analysis of carbonylated brain proteins in mild cognitive impairment and early Alzheimer's disease.
19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18617632 2008 Syntaxin 1A interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux.
18469812 2008 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
18268500 2009 Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression.
17543282 2007 Role of H(abc) domain in membrane trafficking and targeting of syntaxin 1A.
17264080 2007 Functionally and spatially distinct modes of munc18-syntaxin 1 interaction.
17200691 2006 Distinct domain-dependent effect of syntaxin1A on amiloride-sensitive sodium channel (ENaC) currents in HT-29 colonic epithelial cells.
16722236 2006 The role of SNARE proteins in trafficking and function of neurotransmitter transporters.
16413130 2006 Cyclin-dependent kinase 5, Munc18a and Munc18-interacting protein 1/X11alpha protein up-regulation in Alzheimer's disease.
15635413 2005 Nucleolar proteome dynamics.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15563604 2005 Munc18-1 regulates early and late stages of exocytosis via syntaxin-independent protein interactions.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15489225 2004 Fluorescence resonance energy transfer reports properties of syntaxin1a interaction with Munc18-1 in vivo.
15217342 2004 The synaptic vesicle cycle.
15175344 2004 Syntaxin/Munc18 interactions in the late events during vesicle fusion and release in exocytosis.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14744865 2004 Munc-18-1 inhibits phospholipase D activity by direct interaction in an epidermal growth factor-reversible manner.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12963086 2004 Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins.
12950453 2003 Physiological regulation of Munc18/nSec1 phosphorylation on serine-313.
12773094 2003 A role for Sec1/Munc18 proteins in platelet exocytosis.
12730201 2003 Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18.
12590134 2003 Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells.
12519779 2003 Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12093152 2002 Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay.
12016213 2002 Synergistic effects of Munc18a and X11 proteins on amyloid precursor protein metabolism.
11927603 2002 Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115.
10903204 2000 Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.
10746715 2000 Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex.
10449403 1999 A conformational switch in syntaxin during exocytosis: role of munc18.
10194441 1999 Human platelets contain SNARE proteins and a Sec1p homologue that interacts with syntaxin 4 and is phosphorylated after thrombin activation: implications for platelet secretion.
9933594 1999 Regulation of exocytosis by cyclin-dependent kinase 5 via phosphorylation of Munc18.
9545644 1998 Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.
9395480 1997 Mints, Munc18-interacting proteins in synaptic vesicle exocytosis.
9115738 1997 DOC2 proteins in rat brain: complementary distribution and proposed function as vesicular adapter proteins in early stages of secretion.
9045631 1997 Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4.
8824310 1996 A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants.
8631738 1996 Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its implication in regulating the interaction of Munc-18/n-Sec1/rbSec1 with syntaxin.
8108429 1994 n-Sec1: a neural-specific syntaxin-binding protein.
7698978 1995 rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the axon, but are not in a stable complex with syntaxin.