Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
DEE4,MUNC18-1,N-Sec1,NSEC1,P67,RBSEC1,UNC18,unc-18A,unc18-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6812
MIM: 602926
HGNC: 11444
Ensembl: ENSG00000136854
Variants:
dbSNP: 6812
ClinVar: 6812
TCGA: ENSG00000136854
COSMIC: STXBP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38279907 | 2024 | Early life seizures and epileptic spasms in STXBP1-related disorders. | 0 |
| 38484778 | 2024 | Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F. | 0 |
| 38490366 | 2024 | Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. | 0 |
| 38279907 | 2024 | Early life seizures and epileptic spasms in STXBP1-related disorders. | 0 |
| 38484778 | 2024 | Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F. | 0 |
| 38490366 | 2024 | Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. | 0 |
| 36315647 | 2023 | Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy. | 8 |
| 36517239 | 2023 | An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1. | 1 |
| 36882827 | 2023 | Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China. | 2 |
| 37062417 | 2023 | The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B. | 2 |
| 37407264 | 2023 | Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. | 1 |
| 36315647 | 2023 | Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy. | 8 |
| 36517239 | 2023 | An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1. | 1 |
| 36882827 | 2023 | Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China. | 2 |
| 37062417 | 2023 | The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B. | 2 |
Citation
Dessen P
STXBP1 (syntaxin binding protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56155/stxbp1-(syntaxin-binding-protein-1)
