Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6812
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STXBP1
Synonyms (NCBI Gene) Gene synonyms aliases
DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile ep
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34830702 G>A Conflicting-interpretations-of-pathogenicity, benign Missense variant, coding sequence variant
rs112111568 A>G,T Pathogenic Splice acceptor variant
rs121918317 G>A,T Pathogenic Coding sequence variant, missense variant
rs121918318 G>A Pathogenic Coding sequence variant, missense variant
rs121918319 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050254 hsa-miR-25-3p CLASH 23622248
MIRT046505 hsa-miR-15b-5p CLASH 23622248
MIRT043952 hsa-miR-378a-3p CLASH 23622248
MIRT439511 hsa-miR-544a HITS-CLIP 24374217
MIRT439511 hsa-miR-544a HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IEA
GO:0000149 Function SNARE binding ISS
GO:0002576 Process Platelet degranulation IMP 12773094
GO:0003006 Process Developmental process involved in reproduction IEA
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602926 11444 ENSG00000136854
Protein
UniProt ID P61764
Protein name Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Protein unc-18 homolog 1) (Unc18-1) (Protein unc-18 homolog A) (Unc-18A) (p67)
Protein 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 probabl
PDB 6L03
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00995 Sec1 29 581 Sec1 family Family
Tissue specificity TISSUE SPECIFICITY: Brain and spinal cord. Highly enriched in axons.
Sequence
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle   Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
GABA synthesis, release, reuptake and degradation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 4 rs1085307916, rs1554776674, rs796053359, rs121918318, rs796053354, rs796053367, rs587784454, rs1554776853, rs796053377, rs121918319, rs1588317190, rs886041978, rs1554777708, rs121918320, rs1588324025
View all (43 more)
N/A
Epileptic Encephalopathy early infantile epileptic encephalopathy with suppression bursts rs587784453, rs1840653547, rs796053376, rs749965674, rs1085307916, rs1564351103, rs794727792, rs796053359, rs796053367, rs587784454, rs1841611651, rs1554777496, rs1564333757, rs796053377, rs794727970
View all (37 more)
N/A
Epileptic encephalopathy epileptic encephalopathy, Early onset epileptic encephalopathy rs796053367, rs1057518985, rs1057519538, rs1057519539, rs786205598, rs1057519537, rs796053366, rs1057519189 N/A
Mental retardation intellectual disability rs794727792, rs1588324025, rs796053366, rs796053368, rs796053353 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Dravet Syndrome Dravet syndrome N/A N/A GenCC
Infantile Spasms infantile spasms N/A N/A GenCC
Pancreatitis Acute pancreatitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32321873
Alcohol Related Disorders Associate 38015929
Alzheimer Disease Associate 22532456, 37848007
Amblyopia Associate 23531706
Astrocytoma Associate 38136601
Ataxia Associate 32105008, 33332765
Autism Spectrum Disorder Associate 38057311
Autistic Disorder Associate 22722545, 27824329, 35851549, 37583270
Body Dysmorphic Disorders Associate 26993267
Brain Diseases Associate 20887364, 21364700, 21762454, 21770924, 22722545, 23409955, 23531706, 25418441, 25818041, 26280581, 26344814, 26514728, 26648591, 26795593, 26918652
View all (13 more)