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STXBP1 Gene

protein-coding   GIFtS: 69
GCID: GC09P130374

Syntaxin Binding Protein 1

  See STXBP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Syntaxin Binding Protein 11 2     RBSEC12
Syntaxin-Binding Protein 11 2     Neuronal SEC12
Protein Unc-18 Homolog 12 3     unc-18A2
Protein Unc-18 Homolog A2 3     unc18-12
MUNC18-12 3     UNC18A3
N-Sec12 3     Unc-18A3
UNC182 5     Unc18-13
NSEC12     p673
P672     EIEE45

External Ids:    HGNC: 114441   Entrez Gene: 68122   Ensembl: ENSG000001368547   OMIM: 6029265   UniProtKB: P617643   

Export aliases for STXBP1 gene to outside databases

Previous GC identifers: GC09P121489 GC09P122021 GC09P123828 GC09P125750 GC09P127454 GC09P129414 GC09P099990


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 infantile epileptic encephalopathy. 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: STXB1_HUMAN, P61764
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 Wiki entry for STXBP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the STXBP1 gene promoter:
         Tal-1   NRSF form 1   Lmo2   NRSF form 2   E47   Pax-3   Sox9   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTXBP1 promoter sequence
   Search Chromatin IP Primers for STXBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STXBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.1

STXBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STXBP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P130374:  view genomic region     (about GC identifiers)

Start:
130,374,486 bp from pter      End:
130,457,460 bp from pter
Size:
82,975 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: STXB1_HUMAN, P61764 (See protein sequence)
Recommended Name: Syntaxin-binding protein 1  
Size: 594 amino acids; 67569 Da
Subunit: Binds SYTL4 (By similarity). Interacts with STX1A
Secondary accessions: B1AM97 Q28208 Q62759 Q64320 Q96TG8
Alternative splicing: 2 isoforms:  P61764-1, Q64320-1   P61764-2, Q64320-2   

Explore the universe of human proteins at neXtProt for STXBP1: NX_P61764

Explore proteomics data for STXBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STXBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001027392.1  NP_003156.1  

    ENSEMBL proteins: 
     ENSP00000362399   ENSP00000362396  
    Reactome Protein details: P61764

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001619 Sec1-like
     IPR027482 Sec-1-like_dom2

    Graphical View of Domain Structure for InterPro Entry P61764

    ProtoNet protein and cluster: P61764

    1 Blocks protein domain: IPB001619 Sec1-like protein

    UniProtKB/Swiss-Prot: STXB1_HUMAN, P61764
    Similarity: Belongs to the STXBP/unc-18/SEC1 family


    Find genes that share domains with STXBP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STXB1_HUMAN, P61764
    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

         Genatlas biochemistry entry for STXBP1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding ISS--
    GO:0005515protein binding ----
    GO:0017075syntaxin-1 binding ISS--
    GO:0019901protein kinase binding IEA--
    GO:0019904protein domain specific binding IEA--
         
    Find genes that share ontologies with STXBP1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Stxbp1):
     behavior/neurological  mortality/aging  nervous system 

    Find genes that share phenotypes with STXBP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stxbp1tm1Sud for STXBP1

       genOway: Develop your customized and physiologically relevant rodent model for STXBP1

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    Selected qRT-PCR Assays for microRNAs that regulate STXBP1 (see all 39):
    hsa-miR-3164 hsa-miR-520f hsa-miR-607 hsa-miR-15a hsa-miR-134 hsa-miR-30d hsa-miR-624 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidSTXBP1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STXB1_HUMAN, P61764: Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    mitochondrion4
    cytoskeleton2
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005739mitochondrion ISS--
    GO:0005829cytosol TAS--
    GO:0005886colocalizes with plasma membrane ISS--
    GO:0031091platelet alpha granule IDA12773094

    Find genes that share ontologies with STXBP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for STXBP1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.40
    GABA synthesis, release, reuptake and degradation0.00
    Effects of Botulinum toxin0.40
    Glutamate Neurotransmitter Release Cycle0.00
    Neurotransmitter Release Cycle0.32
    Dopamine Neurotransmitter Release Cycle0.00
    Acetylcholine Neurotransmitter Release Cycle0.00
    Norepinephrine Neurotransmitter Release Cycle0.00
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion0.75
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    5Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38


    Find genes that share SuperPaths with STXBP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for STXBP1
        Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for STXBP1
        Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    Cytoskeleton remodeling Neurofilaments

    4 BioSystems Pathways for STXBP1
        EGFR1 Signaling Pathway
    Insulin Signaling
    Synaptic Vesicle Pathway
    Effects of Botulinum toxin


    Selected Reactome Pathways for STXBP1 (see all 7)
        Acetylcholine Neurotransmitter Release Cycle
    Glutamate Neurotransmitter Release Cycle
    Norepinephrine Neurotransmitter Release Cycle
    Dopamine Neurotransmitter Release Cycle
    GABA synthesis, release, reuptake and degradation


    1 Kegg Pathway  (Kegg details for STXBP1):
        Synaptic vesicle cycle

        Pathway & Disease-focused RT2 Profiler PCR Array including STXBP1: 
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for STXBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for STXBP1 (P617642, 3 ENSP000003623994) via UniProtKB, MINT, STRING, and/or I2D (see all 152)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLD1Q133932, 3, ENSP000003427934MINT-7231494 I2D: score=4 STRING: ENSP00000342793
    APBA1Q024103, ENSP000002653814I2D: score=4 STRING: ENSP00000265381
    STX1BP612663, ENSP000002150954I2D: score=4 STRING: ENSP00000215095
    APPP050673, ENSP000002849814I2D: score=3 STRING: ENSP00000284981
    STX2P328563, ENSP000003425544I2D: score=3 STRING: ENSP00000342554
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation IMP12773094
    GO:0006112energy reserve metabolic process TAS--
    GO:0006887exocytosis ----
    GO:0006904vesicle docking involved in exocytosis IEA--
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with STXBP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STXBP1 (STXB1)

    1 HMDB Compound for STXBP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for STXBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 10.1 3 19865482 (1), 19822743 (1), 15885219 (1)



    Find genes that share compounds with STXBP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for STXBP1 gene (2 alternative transcripts): 
    NM_001032221.3  NM_003165.3  

    Unigene Cluster for STXBP1:

    Syntaxin binding protein 1
    Hs.288229  [show with all ESTs]
    Unigene Representative Sequence: NM_003165
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373302(uc004brk.2 uc004brl.2) ENST00000373299 ENST00000476182
    ENST00000496504 ENST00000495829 ENST00000481942 ENST00000494254
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    hsa-miR-3164 hsa-miR-520f hsa-miR-607 hsa-miR-15a hsa-miR-134 hsa-miR-30d hsa-miR-624 hsa-miR-218
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    Additional mRNA sequence: 

    AB209180.1 AF004562.1 AF004563.1 AK094794.1 AK293984.1 AK295154.1 AK295802.1 BC015749.1 
    D63851.1 Y12723.1 

    15 DOTS entries:

    DT.95295380  DT.100787827  DT.95196189  DT.100787830  DT.455348  DT.100787825  DT.75129352  DT.100041776 
    DT.121191682  DT.75145704  DT.100803879  DT.121191688  DT.40197715  DT.40272796  DT.95156823 

    Selected AceView cDNA sequences (see all 367):

    AL534939 BX352839 BM758087 CR602337 BQ426010 AA322614 BM758567 BM758498 
    BM757624 BM689520 BU182963 BI823666 F04187 BQ101018 BM682285 AU102357 
    BM673485 BQ448164 F03652 BX460082 BM767325 BQ014445 CB160771 AA599038 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for STXBP1    About this scheme

    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:                                                                                                                    -               


    ECgene alternative splicing isoforms for STXBP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STXBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCAGGACC
    STXBP1 Expression
    About this image


    STXBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Eye (Sensory Organs)
             Retina
    STXBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STXBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.288229

    UniProtKB/Swiss-Prot: STXB1_HUMAN, P61764
    Tissue specificity: Brain and spinal cord. Highly enriched in axons

        Pathway & Disease-focused RT2 Profiler PCR Array including STXBP1: 
              Diabetes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for STXBP1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stxbp11 , 5 syntaxin binding protein 11, 5 90.85(n)1
    100(a)1
      2 (22.09 cM)5
    209101  NM_009295.21  NP_033321.21 
     327876025 
    chicken
    (Gallus gallus)
    Aves STXBP11 syntaxin binding protein 1 84.94(n)
    96.13(a)
      404293  XM_004945795.1  XP_004945852.1 
    lizard
    (Anolis carolinensis)
    Reptilia STXBP16
    syntaxin binding protein 1
    89(a)
    1 ↔ 1
    GL344812.1(9673-14097)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.87942 Xenopus laevis unc-18 form 2 mRNA, partial cds 78.58(n)    AF043188.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.291492 Transcribed sequence with moderate similarity to protein more 75.34(n)    57074500 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rop1 , 3 neurotransmitter secretion SNARE
    binding3
    Ras opposite1
    63(a)3
    64.32(n)1
    65.01(a)1
      64A83
    384931  NM_001274475.11  NP_001261404.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-181 , 3 Acetylcholine regulator unc-183
    unc-181
    58(a)
    (best of 2)3
    58.3(n)1
    59.45(a)1
      X(7718177-7720481)3
    1810301  NM_001029435.31  NP_001024606.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC16
    Sm-like protein involved in docking and fusion of ...
    21(a)
    1 → many
    IV(782041-784215) YDR164C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SEC1B1 SEC1B 47.59(n)
    36.2(a)
      826820  NM_117282.2  NP_567388.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g02524001 Os04g0252400 44.88(n)
    32.56(a)
      4335313  NM_001058854.1  NP_001052319.2 


    ENSEMBL Gene Tree for STXBP1 (if available)
    TreeFam Gene Tree for STXBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for STXBP1 gene
    STXBP32  STXBP22  
    3 SIMAP similar genes for STXBP1 using alignment to 1 protein entry:     STXB1_HUMAN:
    stxbp1    STXBP2    STXBP3

    Find genes that share paralogs with STXBP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STXBP1 (see all 1511)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0462064
    Epileptic encephalopathy, early infantile, 4 (EIEE4)4--see VAR_0462062 C Y mis40--------
    VAR_0462074
    Epileptic encephalopathy, early infantile, 4 (EIEE4)4--see VAR_0462072 M R mis40--------
    VAR_0462054
    Epileptic encephalopathy, early infantile, 4 (EIEE4)4--see VAR_0462052 V D mis40--------
    VAR_0462084
    Epileptic encephalopathy, early infantile, 4 (EIEE4)4--see VAR_0462082 G D mis40--------
    rs1153329001,2
    F--99988652(+) TGGCCC/AAGACT 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs114507161,2
    C--99993400(+) AAAAAG/-AAAAA 2 -- int1 trp31Minor allele frequency- -:0.50NA 2
    rs714956541,2
    C--100002444(+) AAATAATATATATATATATATATAT
    ATATATATATATATATAT
    /-
    ATATA
    2 -- int11Minor allele frequency- -:0.50NA 2
    rs70328971,2
    C,A--100025221(+) tttttG/Tttttt 2 -- int1 trp30--------
    rs666888151,2
    C--100025819(+) TGTTC-/CTCTACAG 2 -- cds10--------
    rs114512481,2
    C--130375905(+) ATAAC-/AAAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for STXBP1 (130374486 - 130457460 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for STXBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv8287n71CNV Loss21882294
    nsv893867CNV Loss21882294
    nsv893868CNV Loss21882294
    nsv893865CNV Loss21882294
    nsv893859CNV Loss21882294
    nsv893860CNV Gain21882294
    nsv893866CNV Gain21882294

    Human Gene Mutation Database (HGMD): STXBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STXBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602926   
    OMIM disorders: 612164  
    UniProtKB/Swiss-Prot: STXB1_HUMAN, P61764
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for STXBP1:    
    About MalaCards
    epileptic encephalopathy, early infantile, 4    infantile epileptic encephalopathy    ohtahara syndrome    hydranencephaly
    early myoclonic encephalopathy    epileptic encephalopathy, early infantile, 17    neuronal intranuclear inclusion disease    dravet syndrome
    west syndrome

    3 diseases from the University of Copenhagen DISEASES database for STXBP1:
    Ohtahara syndrome     Early myoclonic encephalopathy     Hydranencephaly

    Find genes that share disorders with STXBP1           About GenesLikeMe

    Genetic Association Database (GAD): STXBP1
    Human Genome Epidemiology (HuGE) Navigator: STXBP1 (2 documents)

    Export disorders for STXBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for STXBP1 gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with STXBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. (PubMed id 9545644)1, 2, 3 Swanson D.A.... Valle D. (Genomics 1998)
    2. A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants. (PubMed id 8824310)1, 2, 9 Gengyo-Ando K.... Ikawa Y. (J. Neurosci. 1996)
    3. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. (PubMed id 18469812)1, 2, 9 Saitsu H....Matsumoto N. (Nat. Genet. 2008)
    4. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (PubMed id 19557857)1, 4, 9 Hamdan F.F....Michaud J.L. (Ann. Neurol. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression. (PubMed id 18268500)1, 9 Behan A.T....Cotter D.R. (Mol. Psychiatry 2009)
    7. Fluorescence resonance energy transfer reports properties of syntaxin1a interaction with Munc18-1 in vivo. (PubMed id 15489225)1, 9 Liu J....Stuenkel E.L. (J. Biol. Chem. 2004)
    8. Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 9 Okamoto M. and Suedhof T.C. (J. Biol. Chem. 1997)
    9. Physiological regulation of Munc18/nSec1 phosphorylation on serine-313. (PubMed id 12950453)1, 9 Craig T.J....Morgan A. (J. Neurochem. 2003)
    10. A conformational switch in syntaxin during exocytosis: role of munc18. (PubMed id 10449403)1, 9 Dulubova I....Rizo J. (EMBO J. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6812 HGNC: 11444 AceView: STXBP1 Ensembl:ENSG00000136854 euGenes: HUgn6812
    ECgene: STXBP1 Kegg: 6812 H-InvDB: STXBP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for STXBP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for STXBP1 gene:
    Search GeneIP for patents involving STXBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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