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STX1A Gene

protein-coding   GIFtS: 68
GCID: GC07M073113

Syntaxin 1A (Brain)


(Previous symbol: STX1)
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(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 1A (Brain)1 2     P35-12
STX11 2 3 5     SYN1A2
Neuron-Specific Antigen HPC-12 3     syntaxin-1A2
HPC-12     

External Ids:    HGNC: 114331   Entrez Gene: 68042   Ensembl: ENSG000001060897   OMIM: 1865905   UniProtKB: Q166233   

Export aliases for STX1A gene to outside databases

Previous GC identifers: GC07M071753 GC07M072511 GC07M072525 GC07M072500 GC07M072558 GC07M072751 GC07M068995


(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 STX1A Gene:
This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated
in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal
transmembrane domain, a SNARE (Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein
REceptor) domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a
calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal
H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Sep
2009)

GeneCards Summary for STX1A Gene:
STX1A (syntaxin 1A (brain)) is a protein-coding gene. Diseases associated with STX1A include cystic fibrosis, and tetanus. GO annotations related to this gene include protein heterodimerization activity and protein N-terminus binding. An important paralog of this gene is STX2.

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623
Function: Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical
role in neurotransmitter exocytosis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm

Gene Wiki entry for STX1A 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STX1A gene promoter:
         E2F-3a   AP-1   ATF-2   E2F-2   E2F   E2F-1   c-Jun   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): STX1A promoter sequence
   Search Chromatin IP Primers for STX1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STX1A


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.2

STX1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STX1A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M073113:  view genomic region     (about GC identifiers)

Start:
73,113,535 bp from pter      End:
73,134,017 bp from pter
Size:
20,483 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,446,607-72,467,089     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623 (See protein sequence)
Recommended Name: Syntaxin-1A  
Size: 288 amino acids; 33023 Da
Subunit: Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Binds
SYTL4 and STXBP6. Found in a ternary complex with STX1A and SNAP25. Interacts with OTOF and LGI3. Interacts with
SLC6A4. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Found in a complex
with VAMP8 and SNAP23. Interacts with VAPA and SYBU. Interacts with STXBP1 and DAPK1
Sequence caution: Sequence=AAA20940.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O15447 O15448 Q12936 Q75MD9 Q9BPZ6
Alternative splicing: 3 isoforms:  Q16623-1   Q16623-2   Q16623-3   

Explore the universe of human proteins at neXtProt for STX1A: NX_Q16623

Explore proteomics data for STX1A at MOPED

Post-translational modifications: 

  • Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction
    with STXBP11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STX1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159375.1  NP_004594.1  

    ENSEMBL proteins: 
     ENSP00000222812   ENSP00000378585   ENSP00000378583   ENSP00000378584  
    Reactome Protein details: Q16623

    STX1A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for STX1A
    Cloud-Clone Corp. Proteins for STX1A

    STX1A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of STX1A
    R&D Systems Antibodies for STX1A (Syntaxin 1A)
    Cell Signaling Technology (CST) Antibodies for STX1A 
    OriGene Antibodies for STX1A
    OriGene Custom Antibody Services for STX1A
    Novus Biologicals STX1A Antibodies
    Abcam antibodies for STX1A (Q16623, Q13277, P61266, P32856)
    Cloud-Clone Corp. Antibodies for STX1A
    ThermoFisher Antibody for STX1A
    LSBio Antibodies in human, mouse, rat for STX1A

    STX1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STX1A
    Cloud-Clone Corp. CLIAs for STX1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR028669 STX1A/1B
     IPR010989 t-SNARE
     IPR006011 Syntaxin_N
     IPR006012 Syntaxin/epimorphin_CS

    Graphical View of Domain Structure for InterPro Entry Q16623

    ProtoNet protein and cluster: Q16623

    1 Blocks protein domain: IPB006011 Syntaxin

    UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623
    Similarity: Belongs to the syntaxin family
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    STX1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STX1A_HUMAN, Q16623
    Function: Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical
    role in neurotransmitter exocytosis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm

         Genatlas biochemistry entry for STX1A:
    syntaxin 1A,expressed in the nervous system at the early stage of embryogenesis,strongly related to the cognitive
    processes,forming a synaptic core complex with synaptosome associated proteins and synaptobrevin,binding to
    N-type Ca2+ channels,involved in the intracellular membrane transport and exocytosis process of
    neurotransmitters,deleted in Williams syndrome,soluble N ethylmaleimide-sensitive factor-attachment protein
    receptor,SNARE protein

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding IEA--
    GO:0001948glycoprotein binding IEA--
    GO:0005484SNAP receptor activity IEA--
    GO:0005515protein binding IPI10321247
    GO:0017022myosin binding ----
         
    STX1A for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Stx1a):
     behavior/neurological  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  normal 

    STX1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for STX1A: Stx1atm2.1Sud Stx1atm1Tfuj Stx1atm1.1Sud Stx1atm1Gwz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STX1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for STX1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STX1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STX1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target STX1A:
    hsa-mir-34a-5p (MIRT006305), hsa-mir-335-5p (MIRT018783), hsa-mir-26b-5p (MIRT030051)

    Block miRNA regulation of human, mouse, rat STX1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STX1A (see all 40):
    hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-29a hsa-miR-449a hsa-miR-9 hsa-miR-424 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidSTX1A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STX1A
    Predesigned siRNA for gene silencing in human, mouse, rat STX1A

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for STX1A

    Clone
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    OriGene ORF clones in mouse, rat for STX1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STX1A (NM_004603)
    Sino Biological Human cDNA Clone for STX1A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STX1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX1A

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX1A


    (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
    STX1A_HUMAN, Q16623: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type IV
    membrane protein (By similarity). Cell junction, synapse, synaptosome (By similarity)
    STX1A_HUMAN, Q16623: Isoform 2: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane4
    cytosol3
    cytoskeleton2
    golgi apparatus2
    endoplasmic reticulum1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0008021synaptic vesicle ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    STX1A for ontologies           About GeneDecksing


    (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 STX1A About   (see all 16)  
    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
    3Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    SNARE interactions in vesicular transport0.40
    4Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion0.75
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for STX1A
        Epithelial Tight Junctions

    1 Cell Signaling Technology (CST) Pathway for STX1A
        Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for STX1A
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    4 BioSystems Pathways for STX1A
        Monoamine Transport
    Serotonin Transporter Activity
    Synaptic Vesicle Pathway
    Effects of Botulinum toxin


    Selected Reactome Pathways for STX1A (see all 9)
        Acetylcholine Neurotransmitter Release Cycle
    GABA synthesis, release, reuptake and degradation
    Regulation of insulin secretion
    Toxicity of botulinum toxin type C (BoNT/C)
    Insulin processing

    1 PharmGKB Pathway for STX1A
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    4 Kegg Pathways  (Kegg details for STX1A):
        SNARE interactions in vesicular transport
    Synaptic vesicle cycle
    Insulin secretion
    Amphetamine addiction


    STX1A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STX1A
    Interactions:

        GeneGlobe Interaction Network for STX1A

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

    Selected Interacting proteins for STX1A (Q166232, 3 ENSP000002228124) via UniProtKB, MINT, STRING, and/or I2D (see all 162)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCSER2Q9H7U12, 3, ENSP000002247564MINT-64287 I2D: score=5 STRING: ENSP00000224756
    VIMP086702, 3, ENSP000002242374MINT-64286 I2D: score=5 STRING: ENSP00000224237
    SNAP25P608802, 3, ENSP000002549764MINT-63924 I2D: score=11 STRING: ENSP00000254976
    STXBP1P617643, ENSP000003623994I2D: score=7 STRING: ENSP00000362399
    VAMP2P630273, ENSP000003142144I2D: score=6 STRING: ENSP00000314214
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001956positive regulation of neurotransmitter secretion IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006836neurotransmitter transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0007268synaptic transmission TAS--

    STX1A for ontologies           About GeneDecksing



    (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 STX1A

    Selected Novoseek inferred chemical compound relationships for STX1A gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    csp-1 71.1 1 9593683 (1)
    calcium 43.2 55 10548106 (3), 19004828 (3), 8604041 (2), 10692440 (2) (see all 28)
    katp 33.7 7 16774559 (2), 15339904 (2), 16672225 (1), 17965341 (1) (see all 5)
    sulfonylurea 28.9 4 16672225 (2), 17878408 (1), 15339904 (1)
    gaba 27.7 6 11017172 (1), 11741293 (1), 16861228 (1), 8134021 (1) (see all 5)
    cysteine 19.3 7 11463334 (3), 19158383 (1), 12761168 (1)
    norepinephrine 17.2 6 12629174 (2), 16289633 (1), 7612024 (1), 17032905 (1) (see all 5)
    chloride 16.2 10 9724814 (5), 11017172 (1), 10198254 (1), 12209004 (1) (see all 5)
    glucose 13.4 19 9070225 (3), 19716806 (2), 17912268 (1), 10409120 (1) (see all 11)
    amphetamine 11.6 1 17032905 (1)



    STX1A for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for STX1A gene (2 alternative transcripts): 
    NM_001165903.1  NM_004603.3  

    Unigene Cluster for STX1A:

    Syntaxin 1A (brain)
    Hs.647024  [show with all ESTs]
    Unigene Representative Sequence: BC064644
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222812(uc003tyx.3) ENST00000395156(uc003tyy.3) ENST00000484736
    ENST00000480126 ENST00000491645 ENST00000395154(uc010lbj.2) ENST00000497980
    ENST00000491427 ENST00000496216 ENST00000395155 ENST00000461441 ENST00000470878
    ENST00000494245 ENST00000462135

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate STX1A (see all 40):
    hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-29a hsa-miR-449a hsa-miR-9 hsa-miR-424 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidSTX1A 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): STX1A (NM_004603)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX1A
    Primer
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    OriGene qPCR primer pairs and template standards for STX1A
    OriGene qSTAR qPCR primer pairs in human, mouse for STX1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STX1A
      QuantiTect SYBR Green Assays in human, mouse, rat STX1A
      QuantiFast Probe-based Assays in human, mouse, rat STX1A

    Additional mRNA sequence: 

    AK313980.1 BC000444.2 BC003011.1 BC064644.1 CR457018.1 D37932.1 L37792.1 U12918.1 

    14 DOTS entries:

    DT.444613  DT.92424943  DT.95173220  DT.121099581  DT.101979306  DT.100794773  DT.100794774  DT.95173218 
    DT.40251548  DT.315047  DT.121099531  DT.121099575  DT.92034050  DT.92424947 

    Selected AceView cDNA sequences (see all 172):

    D37932 AA337566 BE615206 BM792251 BX460761 BM756502 F04110 CR601836 
    AI815836 BX441602 BQ232948 BM511832 CA950858 BI916931 BM754838 BU848697 
    CA868470 CR621226 CD107173 BC003011 CA412016 BM763056 BC000444 BC064644 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STX1A (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c
    SP1:                    -                 -     -                                               -     -     -     -                                 
    SP2:                    -                 -     -                                               -     -     -                                       
    SP3:                    -                 -     -                                                                                                   
    SP4:                                      -     -                                                                                                   
    SP5:                                            -                                               -     -                                             


    ECgene alternative splicing isoforms for STX1A

    (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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    STX1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCAGGGGA
    STX1A Expression
    About this image


    STX1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neurons
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 9 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Lateral Ventricle
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
    STX1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STX1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647024

    UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623
    Tissue specificity: Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum
    and cerebral cortex. Isoform 2 is expressed in heart, liver, fat, skeletal muscle, kidney and brain

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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 STX1A gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stx1a1 , 5 syntaxin 1A (brain)1, 5 91.2(n)1
    98.26(a)1
      5 (74.95 cM)5
    209071  NM_016801.31  NP_058081.21 
     1350234825 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    83(a)
    79(a)
    1 ↔ many
    1 ↔ many
    19(132268-140091) ENSGALG00000014539
    19(103511-130515) ENSGALG00000025869
    lizard
    (Anolis carolinensis)
    Reptilia STX1A6
    syntaxin 1A (brain)
    95(a)
    1 ↔ 1
    GL343734.1(246332-251460)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX703670.12   -- 78.78(n)    BX703670.1 
    zebrafish
    (Danio rerio)
    Actinopterygii stx1a6
    syntaxin 1A (brain)
    65(a)
    1 ↔ 1
    15(1729632-1742169) ENSDARG00000058994
    fruit fly
    (Drosophila melanogaster)
    Insecta Syx1A1 , 3 regulation of pole plasm oskar mRNA
    localization more3
    Syntaxin 1A1
    70(a)3
    71.17(n)1
    73.75(a)1
      95E13
    428541  NM_001202347.11  NP_001189276.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-641 unc-64 62.55(n)
    69.72(a)
      176743  NM_001027444.3  NP_001022615.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SSO2(YMR183C)4
    SSO21
    Plasma membrane t-SNARE involved in fusion of secretory more4
    SSO21
    47.65(n)1
    37.29(a)1
      13(627808-626921)4
    8552211, 4  NP_013908.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SYP1321 SYP132 45.16(n)
    32.48(a)
      830702  NM_120890.2  NP_568187.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01685001 Os06g0168500 47.36(n)
    30(a)
      4340257  NM_001063460.1  NP_001056925.1 


    ENSEMBL Gene Tree for STX1A (if available)
    TreeFam Gene Tree for STX1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STX1A gene
    STX22  STX112  STX1B2  STX32  STX192  STX42  
    10 SIMAP similar genes for STX1A using alignment to 3 protein entries:     STX1A_HUMAN (see all proteins):
    stx1c    STX1B    STX2    STX3    DKFZp686L1857    STX3A
    STX4A    STX4    STX11    STX19

    STX1A for paralogs           About GeneDecksing



    (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 STX1A (see all 380)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015665571,2
    C--72462184(+) AAAAA-/CAAAAA 2 -- int10--------
    rs674915391,2
    C--73122266(-) TTTTT-/TTCAAG 2 -- int12Minor allele frequency- T:0.25NA 4
    rs567070451,2
    C--73122419(+) AACCC-/CGTCTC 2 -- int10--------
    rs710822541,2
    C--73129105(-) TTTTGT/-TTTTT 2 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs585459101,2
    C--73129757(+) AAAAA-/ACCAAC 2 -- int10--------
    rs1926270891,2
    --76638557(+) TGCAGA/GTGTCA 2 -- ds50010--------
    rs69568791,2
    C,F,A,H--76638860(+) GAGAAC/TCCTCC 2 -- ds500120Minor allele frequency- T:0.38NS EA NA WA 2344
    rs1850895031,2
    --76638879(+) TCCCCC/TAGGAG 2 -- ds50010--------
    rs1888456681,2
    --76638940(+) TTCTAA/CATAAA 2 -- ut310--------
    rs1926808041,2
    --76638989(+) TGGTGA/CAGGGG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for STX1A (73113535 - 73134017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for STX1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831028CNV Loss17160897
    nsv888371CNV Loss21882294
    dgv7325n71CNV Loss21882294
    nsv469841CNV Complex16826518

    Human Gene Mutation Database (HGMD): STX1A
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing STX1A
    DNA2.0 Custom Variant and Variant Library Synthesis for STX1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 186590    OMIM disorders: --

    UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623
  • Note=STX1A is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region

  • Selected diseases for STX1A (see all 31):    
    About MalaCards
    cystic fibrosis    tetanus    thrombotic thrombocytopenic purpura    hemolytic-uremic syndrome
    purpura    hirschsprung's disease    shigellosis    pheochromocytoma
    williams-beuren syndrome    neuronitis    diarrhea    insulinoma
    migraine    malignant glioma    alzheimer's disease    dementia
    astrocytoma    schizophrenia    mental retardation    obesity

    3 diseases from the University of Copenhagen DISEASES database for STX1A:
    Diarrhea     Anemia     Prostate cancer

    STX1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for STX1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 57.2 7 9763659 (2), 10644452 (2), 10874638 (1), 11977160 (1)
    cystic fibrosis 37 9 12446681 (2), 9724814 (2), 11017172 (1), 10990372 (1) (see all 5)
    tetanus 30.7 1 16150968 (1)
    glioma 2.91 2 12584187 (2)
    astrocytoma 0 2 12586365 (1), 15037634 (1)
    shock 0 1 17208201 (1)
    pheochromocytoma 0 1 9570782 (1)
    alzheimers disease 0 2 16413130 (1)

    Genetic Association Database (GAD): STX1A
    Human Genome Epidemiology (HuGE) Navigator: STX1A (10 documents)

    Export disorders for STX1A 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 STX1A gene, integrated from 10 sources (see all 302):
    (articles sorted by number of sources associating them with STX1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism. (PubMed id 18593506)1, 4, 9 Nakamura K....Mori N. (Int. J. Neuropsychopharmacol. 2008)
    2. Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2. (PubMed id 9177791)1, 2, 9 Nakayama T.... Akagawa K. (Genomics 1997)
    3. Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study. (PubMed id 20385907)1, 4, 9 Lemos C....Sousa A. (Arch. Neurol. 2010)
    4. Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. (PubMed id 19368856)1, 4, 9 Corominas R....Cormand B. (Neurosci. Lett. 2009)
    5. No association between tagging SNPs of SNARE complex genes (STX1A, VAMP2 and SNAP25) and schizophrenia in a Japanese population. (PubMed id 18512733)1, 4, 9 Kawashima K....Iwata N. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    6. Novel isoform of syntaxin 1 is expressed in mammalian cells. (PubMed id 9003414)1, 2, 9 Jagadish M.N....Ward C.W. (Biochem. J. 1997)
    7. Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. (PubMed id 7622072)1, 2, 9 Zhang R.-D.... Simpson L.L. (Gene 1995)
    8. Search for genetic variants of the SYNTAXIN 1A (STX1A) gene: the -352 A&gt;T variant in the STX1A promoter associates with impaired glucose metabolism in an Italian obese population. (PubMed id 17912268)1, 4, 9 Romeo S....Baroni M.G. (Int J Obes (Lond) 2008)
    9. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    10. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (PubMed id 19557857)1, 4 Hamdan F.F....Michaud J.L. (Ann. Neurol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6804 HGNC: 11433 AceView: STX1A Ensembl:ENSG00000106089 euGenes: HUgn6804
    ECgene: STX1A Kegg: 6804 H-InvDB: STX1A

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for STX1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for STX1A gene:
    Search GeneIP for patents involving STX1A

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



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