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

STX1A Gene

protein-coding   GIFtS: 68
GCID: GC07M073113

Syntaxin 1A (Brain)


(Previous symbol: STX1)
Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 williams syndrome, and tetanus, and among its related super-pathways are Serotonin Neurotransmitter Release Cycle and Synaptic Vesicle Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for STX1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

  • UniProtKB: Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction
    with STXBP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16623

  • STX1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    STX1A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159375.1  NP_004594.1  

    ENSEMBL proteins: 
     ENSP00000222812   ENSP00000378585   ENSP00000378583   ENSP00000378584  
    Reactome Protein details: Q16623
    Human Recombinant Protein Products for STX1A: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals STX1A Proteins
    Novus Biologicals STX1A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for STX1A
    Cloud-Clone Corp. Proteins for STX1A 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

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

    STX1A for ontologies           About GeneDecksing



    STX1A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of STX1A
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    LSBio Antibodies in human, mouse, rat for STX1A 

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    Cloud-Clone Corp. CLIAs for STX1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR010989 t-SNARE
     IPR006011 Syntaxin_N
     IPR015709 Syntaxin-1
     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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/13 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for STX1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX1A


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for STX1A About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Serotonin Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.60
    Acetylcholine Neurotransmitter Release Cycle0.53
    Dopamine Neurotransmitter Release Cycle0.60
    Glutamate Neurotransmitter Release Cycle0.44
    Norepinephrine Neurotransmitter Release Cycle0.60
    Effects of Botulinum toxin0.43
    2Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    3Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    SNARE interactions in vesicular transport0.40
    4Botulinum neurotoxicity
    Botulinum neurotoxicity0.89
    Proteolytic cleavage of SNARE complex proteins0.89
    5Regulation of Insulin Secretion
    Regulation of Insulin Secretion0.74
    Integration of energy metabolism0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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)

    3 BioSystems Pathways for STX1A
        Monoamine Transport
    Synaptic Vesicle Pathway
    Effects of Botulinum toxin

    5/18        Reactome Pathways for STX1A (see all 18)
        Proteolytic cleavage of SNARE complex proteins
    Transmission across Chemical Synapses
    Metabolism
    Regulation of Insulin Secretion
    Neuronal System

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STX1A

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

    5/106 Interacting proteins for STX1A (Q166232, 3 ENSP000002228124) via UniProtKB, MINT, STRING, and/or I2D (see all 106)
    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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001956positive regulation of neurotransmitter secretion IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006886intracellular protein transport IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--

    STX1A for ontologies           About GeneDecksing



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

    STX1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for STX1A

    10/22 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)

    Search CenterWatch for drugs/clinical trials and news about STX1A

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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 

    24/172 AceView cDNA sequences (see all 172):

    BU631483 BP376988 BE793363 BX418034 BQ232948 BE784029 CR621226 BM754838 
    D37932 CA412016 BX460761 AA373982 F04110 CR601836 BC003011 BI916931 
    CA868470 CA951110 BM792251 BC064644 CD107173 AA337566 AI815836 CA950858 

    GeneLoc Exon Structure

    5/10 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™, 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

    STX1A expression in normal human tissues (normalized intensities)      STX1A embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Globus Pallidus   
     
     Eye (Sensory Organs)    fully expand to see all 9 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See STX1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STX1A

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for STX1A gene from 10/21 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 91.41(n)1
    98.61(a)1
      5 (74.95 cM)5
    209071  NM_016801.31  NP_058081.21 
     1350234825 
    chicken
    (Gallus gallus)
    Aves STX1A6
    syntaxin 1A (brain)
    82(a)
    1 ↔ 1
    19(132268-140091)
    lizard
    (Anolis carolinensis)
    Reptilia STX1A6
    --
    Uncharacterized protein
    95(a)
    27(a)
    1 ↔ 1
    possible ortholog
    GL343734.1(246332-251460)
    GL343826.1(93338-94620)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX703670.12   -- 78.78(n)    BX703670.1 
    zebrafish
    (Danio rerio)
    Actinopterygii STX1A6
    syntaxin 1A (brain)
    64(a)
    1 ↔ 1
    15(1729632-1742169)
    fruit fly
    (Drosophila melanogaster)
    Insecta Syx1A1 , 3 regulation of pole plasm oskar mRNA
    localization more3
    Syntaxin 1A1
    70(a)3
    69.7(n)1
    70.98(a)1
      95E13
    428541  NM_079751.41  NP_524475.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-641 Protein UNC-64 60.89(n)
    66.43(a)
      176743  NM_001027444.2  NP_001022615.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SSO2(YMR183C)4
    SSO21
    Plasma membrane t-SNARE involved in fusion of secretory more4
    Sso2p1
    44.72(n)1
    31.69(a)1
      13(627808-626921)4
    8552211, 4  NP_013908.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SYP1311 syntaxin 1B/2/3 43.4(n)
    26.27(a)
      821141  NM_111251.2  NP_187030.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g01643001 hypothetical protein 43.21(n)
    26.3(a)
      4342474  NM_001065494.1  NP_001058959.2 


    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)
    About This Section
    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) 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

    10/380 SNPs in STX1A are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    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

  • 20/25 diseases for STX1A (see all 25):    About MalaCards
    williams syndrome    tetanus    thrombotic thrombocytopenic purpura    hemolytic-uremic syndrome
    shigellosis    purpura    hirschsprung's disease    williams-beuren syndrome
    pheochromocytoma    neuronitis    cystic fibrosis    migraine
    insulinoma    diarrhea    malignant glioma    alzheimer's disease
    dementia    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:  
    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)
    About This Section

    PubMed articles for STX1A gene, integrated from 9 sources (see all 298):
    (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. (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. (1997)
    3. Evidence of syntaxin 1A involvement in migraine susce ptibility: a Portuguese study. (PubMed id 20385907)1, 4, 9 Lemos C....Sousa A. (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. (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. (2008)
    6. Novel isoform of syntaxin 1 is expressed in mammalian cells. (PubMed id 9003414)1, 2, 9 Jagadish M.N....Ward C.W. (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. (1995)
    8. Search for genetic variants of the SYNTAXIN 1A (STX1A) gene: the -352 A>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. (2008)
    9. Association of genetic variants with chronic kidney d isease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (2009)
    10. De novo STXBP1 mutations in mental retardation and no nsyndromic epilepsy. (PubMed id 19557857)1, 4 Hamdan F.F....Michaud J.L. (2009)

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

    (According to HUGE)
    About This Section
      --

    (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 STX1A Pharmacogenomics, SNPs, Pathways

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

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