InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: STXBP1

Summary

InnateDB Protein

IDBP-86145.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

STXBP1

Protein Name

syntaxin binding protein 1

Synonyms

MUNC18-1; NSEC1; P67; RBSEC1; UNC18;

Species

Homo sapiens

Ensembl Protein

ENSP00000362399

InnateDB Gene

IDBG-86143 (STXBP1)

Protein Structure

UniProt Annotation

Function

May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. 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. May play a role in determining the specificity of intracellular fusion reactions.

Subcellular Localization

Cytoplasm. Membrane; Peripheral membrane protein.

Disease Associations

Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: 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 mental retardation, and MRI evidence of brain hypomyelination. {ECO:0000269PubMed:18469812}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain and spinal cord. Highly enriched in axons.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000149	SNARE binding
GO:0005515	protein binding
GO:0017075	syntaxin-1 binding
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding
GO:0019905	syntaxin binding
GO:0042802	identical protein binding
GO:0044822	poly(A) RNA binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0002576	platelet degranulation
GO:0006112	energy reserve metabolic process
GO:0006887	exocytosis
GO:0006904	vesicle docking involved in exocytosis
GO:0007268	synaptic transmission
GO:0007269	neurotransmitter secretion
GO:0007274	neuromuscular synaptic transmission
GO:0007412	axon target recognition
GO:0010807	regulation of synaptic vesicle priming
GO:0014047	glutamate secretion
GO:0015031	protein transport
GO:0016188	synaptic vesicle maturation
GO:0016192	vesicle-mediated transport
GO:0032229	negative regulation of synaptic transmission, GABAergic
GO:0043524	negative regulation of neuron apoptotic process
GO:0044281	small molecule metabolic process
GO:0045921	positive regulation of exocytosis
GO:0045956	positive regulation of calcium ion-dependent exocytosis
GO:0050796	regulation of insulin secretion
GO:0050821	protein stabilization
GO:0060292	long term synaptic depression
GO:0070527	platelet aggregation

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0031091	platelet alpha granule
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome