Property Summary

NCBI Gene PubMed Count 141
Grant Count 232
R01 Count 127
Funding $28,891,546.33
PubMed Score 730.21
PubTator Score 324.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Synonym

Accession Q16623 O15447 O15448 Q12936 Q75MD9 Q7Z5K3 Q9BPZ6
Symbols STX1
HPC-1
P35-1
SYN1A

Gene

Gene RIF (60)

PMID Text
26918652 Mislocalization of syntaxin-1 was found in pluripotent stem cells from epileptic encephalopathy patient.
25803850 Blockade of the SNARE protein syntaxin 1 inhibits glioblastoma tumor growth.
25445064 SNARE complex genes and their interactions may play a significant role in susceptibility and working memory of ADHD.
24429282 PIP2 affects islet beta-cell KATP channels not only by its actions on Kir6.2 but also by sequestering Syn-1A to modulate Syn-1A availability and its interactions with SUR1 on PM.
24375629 We described clinical, genetic, and functional data from 17 families with a diagnosis of benign familial neonatal epilepsy caused by KCNQ2 or KCNQ3 mutations and we showed that some mutations lead to a reduction of Q2 channel regulation by syntaxin-1A.
24218570 Prefusion structure of syntaxin-1A suggests pathway for folding into neuronal trans-SNARE complex fusion intermediate.
24164654 no associaton with idiopathic generalized epilepsy was found regarding Intron 7 rs1569061 of Syntaxin 1A gene, MnlI rs3746544 and DdeI rs1051312 polymorphisms of SNAP-25 gene compared with healthy subjects
23858467 N-peptide and LE mutation have no effect on the global conformation of the Munc18a-Syx1a complex.
23801330 the preferential binding of CAPS1 to open syntaxin-1 can contribute to the stabilization of the open state of syntaxin-1 during its transition from "closed" state to the SNARE complex formation.
23572023 The clinical relevance of STX1A variants in CF
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AA Sequence

MKDRTQELRTAKDSDDDDDVAVTVDRDRFMDEFFEQVEEIRGFIDKIAENVEEVKRKHSAILASPNPDEK      1 - 70
TKEELEELMSDIKKTANKVRSKLKSIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMSEYNATQSD     71 - 140
YRERCKGRIQRQLEITGRTTTSEELEDMLESGNPAIFASGIIMDSSISKQALSEIETRHSEIIKLENSIR    141 - 210
ELHDMFMDMAMLVESQGEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIA    211 - 280
STVGGIFA                                                                  281 - 288
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Text Mined References (143)

PMID Year Title
26918652 2016 Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
26359495 2015 The Q-soluble N-Ethylmaleimide-sensitive Factor Attachment Protein Receptor (Q-SNARE) SNAP-47 Regulates Trafficking of Selected Vesicle-associated Membrane Proteins (VAMPs).
25803850 2015 Blockade of the SNARE protein syntaxin 1 inhibits glioblastoma tumor growth.
25445064 2015 Synaptosome-related (SNARE) genes and their interactions contribute to the susceptibility and working memory of attention-deficit/hyperactivity disorder in males.
24885604 2014 CFTR and Anoctamin 1 (ANO1) contribute to cAMP amplified exocytosis and insulin secretion in human and murine pancreatic beta-cells.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24429282 2014 Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic ?-cell ATP-sensitive potassium channels.
24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
24218570 2013 Prefusion structure of syntaxin-1A suggests pathway for folding into neuronal trans-SNARE complex fusion intermediate.
24164654 2014 Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy.
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