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Aliases for STXBP1 Gene

Aliases for STXBP1 Gene

  • Syntaxin Binding Protein 1 2 3
  • 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
  • UNC18 3 6
  • P67 3 4
  • Neuronal SEC1 3
  • RBSEC1 3
  • UNC18A 4
  • NSEC1 3
  • EIEE4 6

External Ids for STXBP1 Gene

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 ohtahara syndrome. Among its related pathways are Metabolism and Insulin Signaling. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is STXBP3.

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

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

Genomics for STXBP1 Gene

Genomic Location for STXBP1 Gene

Start:
127,612,207 bp from pter
End:
127,692,716 bp from pter
Size:
80,510 bases
Orientation:
Plus strand

Genomic View for STXBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STXBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP1 Gene

Regulatory Elements 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

Proteomics data for STXBP1 Gene at MOPED

Post-translational modifications for STXBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STXBP1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for STXBP1 Gene

Domains for STXBP1 Gene

Protein Domains for STXBP1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

STXB1_HUMAN
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.:
    • P61764
genes like me logo Genes that share domains with STXBP1: view

No data available for Gene Families for STXBP1 Gene

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:0005515 protein binding IPI 25416956
GO:0017075 syntaxin-1 binding ISS --
GO:0019901 protein kinase binding IEA --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with STXBP1: view

Phenotypes for STXBP1 Gene

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

Animal Models for STXBP1 Gene

MGI Knock Outs for STXBP1:

miRNA for STXBP1 Gene

miRTarBase miRNAs that target STXBP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for STXBP1 Gene COMPARTMENTS Subcellular localization image for STXBP1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
mitochondrion 4
cytoskeleton 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
GO:0005886 colocalizes_with plasma membrane ISS --
genes like me logo Genes that share ontologies with STXBP1: view

Pathways for STXBP1 Gene

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

Pathways by source for STXBP1 Gene

Gene Ontology (GO) - Biological Process for STXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation IMP 12773094
GO:0006112 energy reserve metabolic process TAS --
GO:0006887 exocytosis --
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with STXBP1: view

Compounds for STXBP1 Gene

(1) HMDB Compounds for STXBP1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for STXBP1 Gene

Compound -log(P) Hits PubMed IDs
glutamate 10.1 3
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:

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 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) (5.7), Brain - Cortex (5.4), Brain - Cerebellar Hemisphere (5.3), Brain - Cerebellum (5.0), and Brain - Anterior cingulate cortex (BA24) (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STXBP1 Gene

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
genes like me logo Genes that share expressions 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 36
  • 99.48 (n)
  • 99.48 (a)
STXBP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STXBP1 36
  • 92.09 (n)
  • 99.83 (a)
STXBP1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STXBP1 36
  • 91.95 (n)
  • 100 (a)
STXBP1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stxbp1 36
  • 90.85 (n)
  • 100 (a)
Stxbp1 16
Stxbp1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STXBP1 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP1 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stxbp1 36
  • 90.74 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves STXBP1 36
  • 84.94 (n)
  • 96.13 (a)
STXBP1 37
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8794 36
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp1 36
  • 78.96 (n)
  • 92.62 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.29149 36
stxbp1a 36
  • 77.21 (n)
  • 86.97 (a)
stxbp1a 37
  • 86 (a)
OneToMany
stxbp1b 37
  • 78 (a)
OneToMany
stxbp1b 37
  • 78 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003023 36
  • 62.36 (n)
  • 64.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rop 36
  • 64.32 (n)
  • 65.01 (a)
Rop 37
  • 63 (a)
OneToMany
Rop 38
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-18 36
  • 58.3 (n)
  • 59.45 (a)
unc-18 37
  • 50 (a)
OneToMany
unc-18 38
  • 58 (a)
T07A9.10 38
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC1 37
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SEC1B 36
  • 47.59 (n)
  • 36.2 (a)
rice
(Oryza sativa)
Liliopsida Os04g0252400 36
  • 44.88 (n)
  • 32.56 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5108 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 60 (a)
OneToMany
Species with no ortholog for STXBP1:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs755621 -- 127,680,104(-) GCTGA(C/T)AGGAA intron-variant
rs1010530 -- 127,622,906(-) acaca(G/T)cgaga intron-variant
rs1318074 -- 127,617,822(+) CACAC(A/G)AAAGG intron-variant
rs1573178 -- 127,610,208(-) GCCAA(A/G)GTCTG upstream-variant-2KB
rs2039205 -- 127,613,364(+) CCCTG(C/G)TTGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv893860 CNV Gain 21882294
nsv893865 CNV Loss 21882294
nsv893866 CNV Gain 21882294
nsv893867 CNV Loss 21882294
nsv893868 CNV Loss 21882294
dgv8287n71 CNV Loss 21882294

Relevant External Links for STXBP1 Gene

HapMap Linkage Disequilibrium report
STXBP1
Human Gene Mutation Database (HGMD)
STXBP1

Disorders for STXBP1 Gene

(1) OMIM Diseases for STXBP1 Gene (602926)

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:24170257, ECO:0000269 PubMed:24623842, ECO:0000269 PubMed:25714420}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for STXBP1 Gene

Relevant External Links for STXBP1

Genetic Association Database (GAD)
STXBP1
Human Genome Epidemiology (HuGE) Navigator
STXBP1
genes like me logo Genes that share disorders with STXBP1: view

Publications for STXBP1 Gene

  1. A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants. (PMID: 8824310) Gengyo-Ando K. … Ikawa Y. (J. Neurosci. 1996) 3 4 23
  2. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. (PMID: 18469812) Saitsu H. … Matsumoto N. (Nat. Genet. 2008) 3 4 23
  3. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (PMID: 19557857) Hamdan F.F. … Michaud J.L. (Ann. Neurol. 2009) 3 23 49
  4. Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. (PMID: 9545644) Swanson D.A. … Valle D. (Genomics 1998) 2 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for STXBP1 Gene

Sources for STXBP1 Gene

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