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    STX1A syntaxin 1A [ Homo sapiens (human) ]

    Gene ID: 6804, updated on 5-Nov-2017
    Official Symbol
    STX1Aprovided by HGNC
    Official Full Name
    syntaxin 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:11433
    See related
    Ensembl:ENSG00000106089 MIM:186590; Vega:OTTHUMG00000137422
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STX1; HPC-1; P35-1; SYN1A
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 28.2), bone marrow (RPKM 2.7) and 3 other tissues See more
    Orthologs
    Location:
    7q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (73699205..73719702, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73113535..73134032, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene BUD23, rRNA methyltransferase and ribosome maturation factor Neighboring gene uncharacterized LOC105375350 Neighboring gene microRNA 4284 Neighboring gene RNA, 7SL, cytoplasmic 265, pseudogene Neighboring gene ABHD11 antisense RNA 1 (tail to tail)

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystemAcetylcholine neurotransmitter release cycle involves syntheis of choline, loading of clathrin scultpted synaptic vesicles, docking and priming of the acetyl choline loaded synaptic vesicles and then...
    • Amphetamine addiction, organism-specific biosystem (from KEGG)
      Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Amphetamine addiction, conserved biosystem (from KEGG)
      Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
    • Effects of Botulinum toxin, organism-specific biosystem (from Pathway Interaction Database)
      Effects of Botulinum toxin, organism-specific biosystem
      Effects of Botulinum toxin
    • GABA synthesis, release, reuptake and degradation, organism-specific biosystem (from REACTOME)
      GABA synthesis, release, reuptake and degradation, organism-specific biosystemGABA is a major inhibitory neurotransmitter in the mammalian central nervous system. GABA modulates neuronal excitability throughout the nervous system. Disruption of GABA neurotransmission leads to ...
    • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • Insulin processing, organism-specific biosystem (from REACTOME)
      Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
      LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotoxicity of clostridium toxins, organism-specific biosystem (from REACTOME)
      Neurotoxicity of clostridium toxins, organism-specific biosystemClostridial neurotoxins, when taken up by human neurons, block synaptic transmission by cleaving proteins required for the fusion of synaptic vesicles with the plasma membrane. They are remarkably ef...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystemNoradrenalin release cycle consists of reacidification of the empty clathrin sculpted monoamine transport vesicle, loading of dopamine into reacidified clathrin coated monamine transport vesicle, con...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • SNARE interactions in vesicular transport, organism-specific biosystem (from KEGG)
      SNARE interactions in vesicular transport, organism-specific biosystem
      SNARE interactions in vesicular transport
    • SNARE interactions in vesicular transport, conserved biosystem (from KEGG)
      SNARE interactions in vesicular transport, conserved biosystem
      SNARE interactions in vesicular transport
    • Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
    • Serotonin Transporter Activity, organism-specific biosystem (from WikiPathways)
      Serotonin Transporter Activity, organism-specific biosystem
      Serotonin Transporter Activity
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystem (from REACTOME)
      Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystemBotulinum toxin type C (BoNT/C) is only very rarely associated with human disease (Hatheway 1995) and a pathway by which it might enter the circulation from the human gut has not been described. Neve...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
      Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium channel inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion channel binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    myosin head/neck binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IEA
    Inferred from Electronic Annotation
    more info
     
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    SNARE complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate secretion TAS
    Traceable Author Statement
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neurotransmitter secretion TAS
    Traceable Author Statement
    more info
     
    positive regulation of calcium ion-dependent exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of catecholamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neurotransmitter secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of norepinephrine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of molecular function IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic vesicle priming IEA
    Inferred from Electronic Annotation
    more info
     
    response to gravity IEA
    Inferred from Electronic Annotation
    more info
     
    secretion by cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle docking IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle fusion to presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    SNARE complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SNARE complex TAS
    Traceable Author Statement
    more info
    PubMed 
    actomyosin IEA
    Inferred from Electronic Annotation
    more info
     
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synaptobrevin 2-SNAP-25-syntaxin-1a complex IEA
    Inferred from Electronic Annotation
    more info
     
    synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex IEA
    Inferred from Electronic Annotation
    more info
     
    synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with voltage-gated potassium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    syntaxin-1A
    Names
    neuron-specific antigen HPC-1
    syntaxin 1A (brain)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013360.1 RefSeqGene

      Range
      5001..25483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165903.1NP_001159375.1  syntaxin-1A isoform 2

      See identical proteins and their annotated locations for NP_001159375.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the 3' coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AI951874, BC000444, BC064644, DA159446
      Consensus CDS
      CCDS55120.1
      UniProtKB/Swiss-Prot
      Q16623
      Related
      ENSP00000378585.3, OTTHUMP00000174616, ENST00000395156.7, OTTHUMT00000268423
      Conserved Domains (3) summary
      cd00179
      Location:30181
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
      cd15848
      Location:191226
      SNARE_syntaxin1-like; SNARE motif of syntaxin 1 and related proteins
      pfam00804
      Location:30226
      Syntaxin; Syntaxin
    2. NM_004603.3NP_004594.1  syntaxin-1A isoform 1

      See identical proteins and their annotated locations for NP_004594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI951874, BC003011, BC064644, DA159446
      Consensus CDS
      CCDS34655.1
      UniProtKB/Swiss-Prot
      Q16623
      UniProtKB/TrEMBL
      Q75ME0
      Related
      ENSP00000222812.3, OTTHUMP00000174615, ENST00000222812.7, OTTHUMT00000268422
      Conserved Domains (2) summary
      pfam00804
      Location:30227
      Syntaxin; Syntaxin
      pfam05739
      Location:228279
      SNARE; SNARE domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      73699205..73719702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012567.1XP_016868056.1  syntaxin-1A isoform X1

    RNA

    1. XR_242263.1 RNA Sequence

    2. XR_927527.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      73259272..73279754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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