Property Summary

NCBI Gene PubMed Count 141
PubMed Score 730.21
PubTator Score 324.30

Knowledge Summary


No data available


  Disease Sources (4)

Disease Target Count
Autistic Disorder 320
Disease Target Count P-value
lung carcinoma 2844 1.16879300206126E-31
astrocytoma 1493 4.46718235045312E-29
oligodendroglioma 2849 7.96327006238779E-23
posterior fossa group B ependymoma 1530 3.56358812235302E-15
atypical teratoid / rhabdoid tumor 4369 2.04464082472714E-13
pilocytic astrocytoma 3086 8.09691757573302E-10
lung adenocarcinoma 2714 4.14162312182666E-9
glioblastoma 5572 6.05665318481403E-7
breast carcinoma 1614 1.73389325424662E-6
pediatric high grade glioma 2712 2.7591936499544E-6
primitive neuroectodermal tumor 3031 1.10956559285153E-5
medulloblastoma 1524 2.77874406541435E-5
medulloblastoma, large-cell 6234 1.37429639944432E-4
Pick disease 1893 0.00692461642691939
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0070483201682482
active ulcerative colitis 477 0.0217839262131617
Disease Target Count
cystic fibrosis 1670


  Differential Expression (16)


Accession Q16623 O15447 O15448 Q12936 Q75MD9 Q7Z5K3 Q9BPZ6
Symbols STX1


  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
S.cerevisiae OMA EggNOG

Gene RIF (60)

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

AA Sequence

STVGGIFA                                                                  281 - 288

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.