Property Summary

NCBI Gene PubMed Count 74
Grant Count 101
R01 Count 68
Funding $10,556,610.56
PubMed Score 208.03
PubTator Score 142.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Synonym

Accession P61764 B1AM97 Q28208 Q62759 Q64320 Q96TG8
Symbols P67
NSEC1
UNC18
RBSEC1
MUNC18-1

Gene

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
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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
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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.
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