protein
Syntaxin-binding protein 1
Gene
STXBP1
Organism
Homo sapiens(9606)
Length
594 aa
Mass
67,569 Da
Syntaxin-binding protein 1 (STXBP1) is a 594-amino acid protein that plays a critical role in synaptic vesicle docking and fusion (UniProt: P61764). It binds syntaxins 1, 2, and 3 and mediates assembly of the SNARE complex at synaptic membranes, thereby regulating neurotransmitter release from neurons. Through these interactions, STXBP1 is essential for neurotransmission and may determine specificity of intracellular fusion reactions.
STXBP1 is expressed in neuronal tissues where it functions at the presynaptic terminal. Mutations in STXBP1 are associated with developmental and epileptic encephalopathy 4 (DEE4), a severe early-onset epilepsy characterized by tonic seizures or spasms, suppression-burst EEG patterns, profound intellectual disability, and brain hypomyelination.
STXBP1 is curated in SFARI as a Category 1 (high confidence) autism-risk gene with syndromic classification (SFARI Cat 1), reflecting evidence that mutations in this gene contribute to neurodevelopmental disorders including autism spectrum disorder, typically in the context of severe epileptic encephalopathy presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
not detected
P2
not detected
S2
-2.184
S3
not detected
Mean log₂FC across detected fractions: -2.1844 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes (By similarity). May play a role in determining the specificity of intracellular fusion reactions
Disease associations
Developmental and epileptic encephalopathy 4DEE4
A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination.
Sources
Last updated 5/8/2026, 1:13:04 AM