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Aliases for STXBP1 Gene

Aliases for STXBP1 Gene

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

External Ids for STXBP1 Gene

Previous GeneCards Identifiers for STXBP1 Gene

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

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 Epileptic Encephalopathy, Early Infantile, 15. Among its related pathways are Angiopoietin Like Protein 8 Regulatory Pathway and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is STXBP2.

UniProtKB/Swiss-Prot for STXBP1 Gene

  • 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.

Gene Wiki entry for STXBP1 Gene

Additional gene information for STXBP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STXBP1 Gene

Genomics for STXBP1 Gene

GeneHancer (GH) Regulatory Elements for STXBP1 Gene

Promoters and enhancers for STXBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I127577 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.1 105 3.5 PKNOX1 FOXA2 MLX ARID4B SIN3A SLC30A9 ELK1 ZNF143 FOS DEK FAM129B STXBP1 CFAP157 TTC16 ENG LOC102723566 RPL12 GC09M127606
GH09I127611 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.3 +33.4 33417 2.4 SIN3A ZNF48 SLC30A9 ZNF121 POLR2B GLIS2 ELK1 ATF7 KLF13 ZNF263 STXBP1 TOR2A PTRH1 GC09M127606 MIR3911
GH09I127637 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.2 +58.4 58365 1 HDAC1 PKNOX1 RFX5 ZNF335 POLR3A ZNF366 SCRT2 PHF21A CEBPB NFIL3 STXBP1 TTC16 CFAP157 FAM129B GC09M127606 MIR3911
GH09I127633 Enhancer 0.7 Ensembl ENCODE 12.4 +54.6 54631 1.2 MITF SP5 MAX NR2F2 ETS1 STXBP1 CFAP157 TTC16 FAM129B GC09M127606 MIR3911
GH09I127689 Enhancer 0.7 ENCODE dbSUPER 11.6 +110.1 110109 0.5 MAFF ZNF316 MAFG MAFK EMSY MIR3911 ENSG00000279571 TTC16 PTRH1 STXBP1 FAM129B GC09M127606
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STXBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STXBP1 gene promoter:

Genomic Locations for STXBP1 Gene

Genomic Locations for STXBP1 Gene
chr9:127,579,370-127,696,027
(GRCh38/hg38)
Size:
116,658 bases
Orientation:
Plus strand
chr9:130,374,486-130,457,460
(GRCh37/hg19)

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
    • Q96TG8

    Protein attributes for STXBP1 Gene

    Size:
    594 amino acids
    Molecular mass:
    67569 Da
    Quaternary structure:
    • Binds SYTL4 (By similarity). Interacts with STX1A.

    Alternative splice isoforms for STXBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP1 Gene

Post-translational modifications for STXBP1 Gene

No Post-translational modifications

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

Protein Domains for STXBP1 Gene

InterPro:
Blocks:
ProtoNet:

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

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
UniProtKB/Swiss-Prot 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.

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,IDA 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

miRNA for STXBP1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 3
golgi apparatus 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 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

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:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0006904 vesicle docking involved in exocytosis ISS,IEA --
genes like me logo Genes that share ontologies with STXBP1: view

No data available for SIGNOR curated interactions for STXBP1 Gene

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

Unigene Clusters for STXBP1 Gene

Syntaxin binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
STXBP1

Expression for STXBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for STXBP1 Gene



Protein tissue co-expression partners for STXBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STXBP1 Gene:

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(4.4)
  • Eye(3.4)
  • Adrenal gland(2.7)
  • Pancreas(2.3)

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

Primer Products

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 33 34
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP1 34
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STXBP1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STXBP1 33 34
  • 92.09 (n)
dog
(Canis familiaris)
Mammalia STXBP1 33 34
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Stxbp1 33 16 34
  • 90.85 (n)
rat
(Rattus norvegicus)
Mammalia Stxbp1 33
  • 90.74 (n)
chicken
(Gallus gallus)
Aves STXBP1 33 34
  • 84.94 (n)
lizard
(Anolis carolinensis)
Reptilia STXBP1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp1 33
  • 78.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8794 33
zebrafish
(Danio rerio)
Actinopterygii stxbp1b 34 34
  • 78 (a)
OneToMany
stxbp1a 33 34
  • 77.21 (n)
Dr.29149 33
fruit fly
(Drosophila melanogaster)
Insecta Rop 35 33 34
  • 64.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003023 33
  • 62.36 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-18 35 33 34
  • 58.3 (n)
T07A9.10 35
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 34
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SEC1B 33
  • 47.59 (n)
rice
(Oryza sativa)
Liliopsida Os04g0252400 33
  • 44.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5108 33
Species where no ortholog for STXBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for STXBP1 Gene

Paralogs for STXBP1 Gene

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

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

Variants for STXBP1 Gene

Sequence variations from dbSNP and Humsavar for STXBP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1022979073 uncertain-significance, Early Infantile Epileptic Encephalopathy, Autosomal Dominant 127,690,924(+) C/T 3_prime_UTR_variant
rs1043433 benign, Early Infantile Epileptic Encephalopathy, Autosomal Dominant 127,692,274(+) T/C 3_prime_UTR_variant
rs1043735703 uncertain-significance, Early Infantile Epileptic Encephalopathy, Autosomal Dominant 127,673,267(+) A/T intron_variant
rs1057518985 likely-pathogenic, Epileptic encephalopathy 127,673,233(+) C/T coding_sequence_variant, missense_variant
rs1057518989 likely-pathogenic, Severe intellectual deficiency 127,673,222(+) TT/T coding_sequence_variant, frameshift

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

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

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

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

- 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
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 22 44 58
  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 22 58
  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 58
  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 22 58
  5. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID: 25818041) Mercimek-Mahmutoglu S … Snead OC (Epilepsia 2015) 3 4 58

Products for STXBP1 Gene

Sources for STXBP1 Gene

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