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 epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] See more...

Aliases for STXBP1 Gene

Aliases for STXBP1 Gene

  • Syntaxin Binding Protein 1 2 3 5
  • Syntaxin-Binding Protein 1 2 3 4
  • MUNC18-1 2 3 4
  • Protein Unc-18 Homolog 1 3 4
  • Protein Unc-18 Homolog A 3 4
  • Unc-18A 3 4
  • Unc18-1 3 4
  • N-Sec1 3 4
  • UNC18 2 3
  • P67 3 4
  • Neuronal SEC1 3
  • RBSEC1 3
  • STXBP1 5
  • HUNC18 2
  • RbSec1 2
  • UNC18A 4
  • NSEC1 3

External Ids for STXBP1 Gene

Previous GeneCards Identifiers for STXBP1 Gene

  • GC09P121489
  • GC09P122021
  • GC09P123828
  • GC09P125750
  • GC09P127454
  • GC09P129414
  • GC09P130374
  • GC09P099990
  • GC09P127612

Summaries for STXBP1 Gene

Entrez Gene Summary for STXBP1 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 epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

GeneCards Summary for STXBP1 Gene

STXBP1 (Syntaxin Binding Protein 1) is a Protein Coding gene. Diseases associated with STXBP1 include Epileptic Encephalopathy, Early Infantile, 4 and Early Infantile Epileptic Encephalopathy. Among its related pathways are Neuroscience and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is STXBP2.

UniProtKB/Swiss-Prot Summary for STXBP1 Gene

  • 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. May play a role in determining the specificity of intracellular fusion reactions.

Gene Wiki entry for STXBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STXBP1 Gene

Genomics for STXBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STXBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STXBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STXBP1

Top Transcription factor binding sites by QIAGEN in the STXBP1 gene promoter:
  • CBF(2)
  • E47
  • Lmo2
  • NF-Y
  • NRSF form 1
  • NRSF form 2
  • Pax-3
  • Sox9
  • Tal-1

Genomic Locations for STXBP1 Gene

Genomic Locations for STXBP1 Gene
chr9:127,579,370-127,696,029
(GRCh38/hg38)
Size:
116,660 bases
Orientation:
Plus strand
chr9:130,374,486-130,457,460
(GRCh37/hg19)
Size:
82,975 bases
Orientation:
Plus strand

Genomic View for STXBP1 Gene

Genes around STXBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP1 Gene

Proteins for STXBP1 Gene

  • Protein details for STXBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61764-STXB1_HUMAN
    Recommended name:
    Syntaxin-binding protein 1
    Protein Accession:
    P61764
    Secondary Accessions:
    • B1AM97
    • Q28208
    • Q62759
    • Q64320
    • Q68CM6
    • Q96TG8

    Protein attributes for STXBP1 Gene

    Size:
    594 amino acids
    Molecular mass:
    67569 Da
    Quaternary structure:
    • Interacts with SYTL4 (By similarity). Interacts with STX1A (PubMed:12730201). Interacts with alpha-synuclein/SNCA; this interaction controls SNCA self-replicating aggregation (PubMed:27597756). Interacts with RAB3A; this interaction promotes RAB3A dissociation from the vesicle membrane (By similarity). Interacts with CABP5 (By similarity).

    Alternative splice isoforms for STXBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP1 Gene

Post-translational modifications for STXBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for STXBP1 Gene

Domains & Families for STXBP1 Gene

Gene Families for STXBP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for STXBP1 Gene

InterPro:
Blocks:
  • Sec1-like protein
ProtoNet:

Suggested Antigen Peptide Sequences for STXBP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55678, highly similar to Syntaxin-binding protein 1 (B7Z1V5_HUMAN)
  • cDNA FLJ55070, highly similar to Syntaxin-binding protein 1 (B7Z3F4_HUMAN)
  • Syntaxin binding protein 1, isoform CRA_a (Q68CM6_HUMAN)
  • p67 (STXB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61764

UniProtKB/Swiss-Prot:

STXB1_HUMAN :
  • Belongs to the STXBP/unc-18/SEC1 family.
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with STXBP1: view

Function for STXBP1 Gene

Molecular function for STXBP1 Gene

UniProtKB/Swiss-Prot 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. May play a role in determining the specificity of intracellular fusion reactions.
GENATLAS Biochemistry:
syntaxin binding protein 1,ubiquitously expressed with highest expression in retina,cerebellum and an alternatively spliced longer form,expressed in several tissues,homolog to Drosophila Rop,involved in neurotransmission,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein

Phenotypes From GWAS Catalog for STXBP1 Gene

Gene Ontology (GO) - Molecular Function for STXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding ISS --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
GO:0017075 syntaxin-1 binding ISS --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with STXBP1: view
genes like me logo Genes that share phenotypes with STXBP1: view

Human Phenotype Ontology for STXBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STXBP1 Gene

MGI Knock Outs for STXBP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STXBP1 Gene

Localization for STXBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP1 Gene

Cytoplasm, cytosol. Membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STXBP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 4
cytoskeleton 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with STXBP1: view

Pathways & Interactions for STXBP1 Gene

genes like me logo Genes that share pathways with STXBP1: view

Pathways by source for STXBP1 Gene

3 GeneGo (Thomson Reuters) pathways for STXBP1 Gene
  • Cytoskeleton remodeling Neurofilaments
  • Regulation of CFTR activity (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
1 Cell Signaling Technology pathway for STXBP1 Gene

SIGNOR curated interactions for STXBP1 Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for STXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation IMP 12773094
GO:0003006 developmental process involved in reproduction IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis IEA,ISS --
genes like me logo Genes that share ontologies with STXBP1: view

Drugs & Compounds for STXBP1 Gene

(1) Drugs for STXBP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for STXBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STXBP1: view

Transcripts for STXBP1 Gene

mRNA/cDNA for STXBP1 Gene

12 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP1

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2: - -
SP3: -

Relevant External Links for STXBP1 Gene

GeneLoc Exon Structure for
STXBP1

Expression for STXBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STXBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STXBP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Cortex (x5.4), Brain - Cerebellar Hemisphere (x5.3), Brain - Cerebellum (x5.0), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for STXBP1 Gene

This gene is overexpressed in Frontal cortex (33.2) and Brain (24.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STXBP1 Gene



Protein tissue co-expression partners for STXBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STXBP1

SOURCE GeneReport for Unigene cluster for STXBP1 Gene:

Hs.288229

mRNA Expression by UniProt/SwissProt for STXBP1 Gene:

P61764-STXB1_HUMAN
Tissue specificity: Brain and spinal cord. Highly enriched in axons.

Evidence on tissue expression from TISSUES for STXBP1 Gene

  • Nervous system(5)
  • Skin(4.6)
  • Eye(3.7)
  • Adrenal gland(3)
  • Pancreas(2.6)
  • Muscle(2.4)
  • Blood(2.3)
  • Kidney(2.2)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with STXBP1: view

Orthologs for STXBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STXBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STXBP1 30 31
  • 99.48 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STXBP1 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STXBP1 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia STXBP1 30 31
  • 92.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STXBP1 30 31
  • 91.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stxbp1 30 17 31
  • 90.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stxbp1 30
  • 90.74 (n)
Chicken
(Gallus gallus)
Aves STXBP1 30 31
  • 84.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STXBP1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stxbp1 30
  • 78.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8794 30
Zebrafish
(Danio rerio)
Actinopterygii stxbp1b 31 31
  • 78 (a)
OneToMany
stxbp1a 30 31
  • 77.21 (n)
OneToMany
Dr.29149 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rop 30 31 32
  • 64.32 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003023 30
  • 62.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-18 30 31 32
  • 58.3 (n)
OneToMany
T07A9.10 32
  • 32 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 31
  • 21 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SEC1B 30
  • 47.59 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0252400 30
  • 44.88 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5108 30
Species where no ortholog for STXBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for STXBP1 Gene

ENSEMBL:
Gene Tree for STXBP1 (if available)
TreeFam:
Gene Tree for STXBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STXBP1: view image

Paralogs for STXBP1 Gene

(3) SIMAP similar genes for STXBP1 Gene using alignment to 1 proteins:

  • STXB1_HUMAN
genes like me logo Genes that share paralogs with STXBP1: view

Variants for STXBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STXBP1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
633836 Pathogenic: Intellectual disability; Spasticity 127,653,740(+) T/TGAG INFRAME_INSERTION
639751 Uncertain Significance: Early infantile epileptic encephalopathy 127,666,260(+) G/A MISSENSE_VARIANT
639917 Likely Benign: Early infantile epileptic encephalopathy 127,676,725(+) C/T MISSENSE_VARIANT
641180 Uncertain Significance: Early infantile epileptic encephalopathy 127,675,834(+) G/C MISSENSE_VARIANT
649479 Pathogenic: Early infantile epileptic encephalopathy 127,663,353(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for STXBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for STXBP1 Gene

Variant ID Type Subtype PubMed ID
esv3621787 CNV loss 21293372
esv3621789 CNV loss 21293372
nsv1075675 CNV deletion 25765185
nsv1126921 CNV deletion 24896259
nsv951767 CNV deletion 24416366

Variation tolerance for STXBP1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STXBP1 Gene

Human Gene Mutation Database (HGMD)
STXBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP1 Gene

Disorders for STXBP1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for STXBP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 4
  • eiee4
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
west syndrome
  • epileptic encephalopathy, early infantile, 1
spasticity
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STXB1_HUMAN
  • 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:0000269 PubMed:18469812, ECO:0000269 PubMed:20887364, ECO:0000269 PubMed:21770924, ECO:0000269 PubMed:23662938, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:24170257, ECO:0000269 PubMed:24623842, ECO:0000269 PubMed:25714420, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for STXBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with STXBP1: view

No data available for Genatlas for STXBP1 Gene

Publications for STXBP1 Gene

  1. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (PMID: 19557857) Hamdan FF … Michaud JL (Annals of neurology 2009) 3 23 41
  2. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. (PMID: 18469812) Saitsu H … Matsumoto N (Nature genetics 2008) 3 4 23
  3. Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. (PMID: 9545644) Swanson DA … Valle D (Genomics 1998) 2 3 4
  4. A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants. (PMID: 8824310) Gengyo-Ando K … Ikawa Y (The Journal of neuroscience : the official journal of the Society for Neuroscience 1996) 3 4 23
  5. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID: 25818041) Mercimek-Mahmutoglu S … Snead OC (Epilepsia 2015) 3 4

Products for STXBP1 Gene

  • Signalway Proteins for STXBP1

Sources for STXBP1 Gene