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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

STXBP1 Gene

protein-coding   GIFtS: 64
GCID: GC09P130374

syntaxin binding protein 1
 Explore 16 diseases affiliated with
STXBP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for STXBP1    

Aliases
for STXBP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Syntaxin Binding Protein 11 2     RBSEC12
MUNC18-11 2 3     Neuronal SEC12
UNC181 2 5     Syntaxin-Binding Protein 12
Protein Unc-18 Homolog 12 3     Unc-18A3
Protein Unc-18 Homolog A2 3     Unc18-13
N-Sec12 3     UNC18A3
HUNC181     Unc-18A3
RbSec11     Unc18-13
NSEC12     P672
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


Summaries
for STXBP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for STXBP1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 plasmid: STXBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for STXBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for STXBP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P61764

    • STXBP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000362399   ENSP00000362396  
    Reactome Protein details: P61764
    Human Recombinant Protein Products: 
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    Uscn Proteins for STXBP1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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


    STXBP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for STXBP1

    Protein Domains /
    Families
    for STXBP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    STXBP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001619 Sec1-like

    Graphical View of Domain Structure for InterPro Entry P61764

    ProtoNet protein and cluster: P61764

    1 Blocks protein family: IPB001619 Sec1-like protein

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


    Function
    for STXBP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: STXBP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding ISS--
    GO:0017075syntaxin-1 binding ISS--
    GO:0019901protein kinase binding IEA--
    GO:0019904protein domain specific binding IEA--
    GO:0019905syntaxin binding IPI12773094


    STXBP1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Stxbp1tm1Sud for STXBP1
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Stxbp1):
     mortality/aging  nervous system 

    STXBP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for STXBP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Serotonin Neurotransmitter Release Cycle
    		Serotonin Neurotransmitter Release Cycle1.00
    		Acetylcholine Neurotransmitter Release Cycle0.53
    		Dopamine Neurotransmitter Release Cycle1.00
    		Glutamate Neurotransmitter Release Cycle0.42
    		Norepinephrine Neurotransmitter Release Cycle0.60
    		Effects of Botulinum toxin0.40
    2GABA synthesis, release, reuptake and degradation
    		GABA synthesis, release, reuptake and degradation1.00
    		Neurotransmitter Release Cycle0.53
    3Regulation of Insulin Secretion
    		Regulation of Insulin Secretion1.00
    		Integration of energy metabolism0.74
    4Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    5Cytoskeleton remodeling Neurofilaments
    		Cytoskeleton remodeling Neurofilaments1.00
    		Cytoskeleton remodeling_Neurofilaments0.91

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for STXBP1
        Cytoskeleton remodeling Neurofilaments


    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
    Synaptic Vesicle Pathway
    Insulin Signaling
    Effects of Botulinum toxin

    5/13        Reactome Pathways for STXBP1 (see all 13)
        Acetylcholine Neurotransmitter Release Cycle
    Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Metabolism
    Regulation of Insulin Secretion



    STXBP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STXBP1

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

    5/48 Interacting proteins for STXBP1 (P617642, 3 ENSP000003623994) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLD1Q133932, 3, ENSP000003427934MINT-7231494 I2D: score=4 STRING: ENSP00000342793
    SYTL4Q96C243, ENSP000002630334I2D: score=5 STRING: ENSP00000263033
    STX1BP612663, ENSP000002150954I2D: score=4 STRING: ENSP00000215095
    APPP050673, ENSP000002849814I2D: score=3 STRING: ENSP00000284981
    CDK5Q005353, ENSP000002975184I2D: score=3 STRING: ENSP00000297518
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    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--


    STXBP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for STXBP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    STXBP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for STXBP1

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

    Search CenterWatch for drugs/clinical trials and news about STXBP1 / STXB1 

    Transcripts
    for STXBP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    8/39 QIAGEN miScript miRNA 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 plasmid: STXBP1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/367 AceView cDNA sequences (see all 367):

    BP361159 AA349489 BG473078 N34734 AU125726 BM758498 F07927 BM673485 
    BM673893 BU182963 CR626680 BF724994 BG319513 AA364457 F09918 BM758567 
    BQ426010 BQ448164 BM853489 BP361442 BQ636164 BQ228860 F06174 BM757624 

    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

    Expression
    for STXBP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    STXBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTCAGGACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See STXBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STXBP1

    SOURCE GeneReport for Unigene cluster: Hs.288229

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

        SABiosciences Expression via Pathway-Focused PCR Array including STXBP1: 
              Diabetes in human mouse rat

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    In Situ
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    Orthologs
    for STXBP1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for STXBP1 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves STXBP11 syntaxin binding protein 1 86.31(n)
    97.98(a)    		   404293  NM_206976.1  NP_996859.1 
    lizard
    (Anolis carolinensis)    		 Reptilia STXBP16
    		 --
    		 88(a)
    		 1 ↔ 1
    		 GL344812.1(9673-13969)
    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
    64.67(n)1
    65.35(a)1    		   64A83
    384931  NM_079192.21  NP_523916.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-181 , 3 Acetylcholine regulator unc-183
    Protein UNC-181    		 58(a)
    (best of 2)3
    58.19(n)1
    59.45(a)1    		   X(7718177-7720481)3
    1810301  NM_001029435.21  NP_001024606.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SEC1B6
    KEU6
    (see all 3)    		 SNARE-interacting protein KEULE
    (see all 3)    		 24(a)
    23(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 4(7256538-7261180)
    1(4200876-4206404)
    rice
    (Oryza sativa)    		 Liliopsida Os06g01359001 hypothetical protein 47.96(n)
    34.06(a)    		   4340037  NM_001063257.1  NP_001056722.1 


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

    Paralogs
    for STXBP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STXBP1 gene
    STXBP32  STXBP22  
    3 SIMAP similar genes for STXBP1 using alignment to 1 protein entry:     STXB1_HUMAN:
    stxbp1    STXBP2    STXBP3

    STXBP1 for paralogs           About GeneDecksing



    Genomic Variants
    for STXBP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1182 NCBI SNPs in STXBP1 are shown (see all 1182)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs558744441,2
    		C,F,--99988969(+) ATTAAC/TGCCTC 2 -- us2k13Minor allele frequency- T:0.09WA 122
    rs751214171,2
    		F,--99989421(+) TCAATT/GTGTGT 2 -- us2k11Minor allele frequency- G:0.08EA 120
    rs37583201,2
    		C,H--99989915(+) TGTACA/GTGGTC 2 -- us2k13Minor allele frequency- G:0.00MN EA NS 496
    rs78498001,2
    		C,F,--99993300(+) TGAACC/TCTCGC 2 -- int15Minor allele frequency- T:0.16NA WA 126
    rs766811201,2
    		F,--99994217(+) AAAGTC/ACCAAC 2 -- int11Minor allele frequency- A:0.03WA 118
    rs761425821,2
    		--99995283(+) GACCAA/GTGCTG 2 -- int10--------
    rs735976811,2
    		C,--99995387(+) AACAAG/AAGCTC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs793860361,2
    		F,--99995575(+) AATGCC/GTCTCT 2 -- int11Minor allele frequency- G:0.08WA 118
    rs1124034021,2
    		C,--99995956(+) AGTCCG/AGCCTT 2 -- int11Minor allele frequency- A:0.50WA 2
    rs727698141,2
    		--99996052(+) TGTCCC/TCATTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for STXBP1 (130374486 - 130457460 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for STXBP1: --
    Human Gene Mutation Database (HGMD): STXBP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STXBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP1

    Disorders / Diseases
    for STXBP1 gene

    (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.)
    About This Section
    STXBP1 for disorders           About GeneDecksing

    OMIM gene information: 602926   
    OMIM disorders: 612164  
    UniProtKB/Swiss-Prot: STXB1_HUMAN, P61764
  • Defects in STXBP1 are the cause of epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164].
    • Affected individuals have neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental
    retardation, and MRI evidence of hypomyelination

    16 diseases for STXBP1:    About MalaCards
    infantile epileptic encephalopathy    epileptic encephalopathy, early infantile, 4    neuronal intranuclear inclusion disease    ohtahara syndrome
    neuronitis    generalized epilepsy    hydranencephaly    intellectual disability
    west syndrome    neuroectodermal tumors    bipolar disorder    tremor
    alzheimer's disease    schizophrenia    pancreatitis    malaria

    2 diseases from the University of Copenhagen DISEASES database for STXBP1:
    Epilepsy syndrome     Intellectual disability
    Human Genome Epidemiology (HuGE) Navigator: STXBP1 (2 documents)

    Export disorders for STXBP1 gene to outside databases

    Publications
    for STXBP1 gene

    (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)
    About This Section

    PubMed articles for STXBP1 gene, integrated from 9 sources (see all 108):
    (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. (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. (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. (2008)
    4. 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. (2004)
    5. 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. (2009)
    6. De novo STXBP1 mutations in mental retardation and no nsyndromic epilepsy. (PubMed id 19557857)1, 9 Hamdan F.F....Michaud J.L. (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. (2004)
    8. Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 9 Okamoto M. and Suedhof T.C. (1997)
    9. Physiological regulation of Munc18/nSec1 phosphorylation on serine-313. (PubMed id 12950453)1, 9 Craig T.J....Morgan A. (2003)
    10. A conformational switch in syntaxin during exocytosis: role of munc18. (PubMed id 10449403)1, 9 Dulubova I....Rizo J. (1999)

    External Searches for STXBP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing STXBP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6812 HGNC: 11444 AceView: STXBP1 Ensembl:ENSG00000136854 euGenes: HUgn6812
    ECgene: STXBP1 H-InvDB: STXBP1

    Other Databases showing STXBP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing STXBP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for STXBP1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for STXBP1 gene

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



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    About This Section

     
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