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FLASH GENE
Symbol STX1A contributors: mct - updated : 13-02-2015
HGNC name syntaxin 1A (brain)
HGNC id 11433
Location 7q11.23      Physical location : 73.113.534 - 73.134.017
Synonym name
  • neuron specific antigen
  • soluble N ethylmaleimide-sensitive factor-attachment protein receptor
  • neuron-specific antigen HPC-1
  • Synonym symbol(s) HPC-1, STX1, ST1A, SX1A, p35-1
    DNA
    TYPE functioning gene
    STRUCTURE 20.48 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see WBS1
    Physical map
    LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2092 - 251 - 2002 11977160
    10 - 2138 - 288 - 2002 11977160
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum  
     spinal cord    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines neutrophil-differentiated Hl-60, SH-SYSY neuroblastoma cells
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text nervous system, spinal cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 120 residues N terminal domain containing three long alpha helices forming an up and down bundle with a left handed twist
  • a C-terminal SNARE domain (residues 183-230) binding to Gbeta
  • HOMOLOGY
    interspecies ortholog to rattus Stx1a (99pc)
    ortholog to murine Stx1a (99pc)
    homolog to Drosophila Syx1a (71pc)
    Homologene
    FAMILY
  • syntaxin/epimorphin family
  • CATEGORY storage , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text granule membranes, (located on the plasma membrane)
    basic FUNCTION
  • SNARE protein, involved in the intracellular membrane transport and exocytosis process of neurotransmitters, strongly related to the cognitive processes
  • dynamically regulating N-type channel function during various steps of exocytosis
  • potentially involved in docking of synaptic vesicles at presynaptic active zones
  • important regulator of normal in utero development, but may not be essential for normal brain function later in life
  • occurs in clusters that are different from lipid rafts in neuroendocrine plasma membranes
  • may play a critical role in neurotransmitter exocytosis
  • catalyzing neuronal exocytosis because it is clustered in the plasma membrane at sites where synaptic vesicles undergo exocytosis
  • dual role of VAMP1, SNAP25, STX1A in exo- and endocytosis suggests that SNARE proteins may be molecular substrates contributing to the exocytosis-endocytosis coupling, which maintains exocytosis in secretory cells
  • novel mode of binding between CAPS1 and syntaxin-1, which play a crucial role in neurosecretion
  • cell death upon STXBP1, STX1A, or SNAP25 loss occurs via a degenerative pathway unrelated to the known synapse function of these proteins and involving early cis-Golgi abnormalities, distinct from apoptosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport , cellular trafficking transport
    text
  • protein transporter
  • intracellular protein transport
  • neurotransmitter transport
  • regulation of insulin secretion
  • PATHWAY
    metabolism
    signaling
    a component
  • constituent of a synaptic core complex with synaptosome associated proteins and synaptobrevin
  • component of the presynaptic SNARE complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SNAP25
  • PSEN1
  • VAMP2
  • CPLX1
  • SYTL4
  • STXBP6
  • VAMP8
  • SNAP23
  • VAPA
  • SYBU
  • functional interactions between STX1A and CACNA1B calcium channels are critical for fast neurotransmitter release in the mammalian brain
  • very intimate STX1A-ABCC9 interactions are critically important for myocardial protection during stress, in which profound changes in metabolic factors (pH, ATP) could modulate these STX1A-ABCC9 interactions
  • STXBP1 is a central regulator of neurotransmitter release, interacting with STX1A and APBA1
  • NCOA6 inhibits likely regulated exocytosis through the interaction of its C2 domain with STX1A and SNAP25, potentially competing with other SNARE-binding, C2 domain-containing accessory proteins such as SYT1 and by directly inhibiting trans-SNARE complex formation
  • STXBP1 plays a dual role in transporting syntaxin-1A (STX1A) to the plasma membrane and regulating SNARE-mediated membrane fusion
  • role for STXBP1 in facilitating exocytosis linked to the loop region of domain 3a that is clearly distinct from its function in STX1A transport
  • PTPRT could regulate the interaction of STXBP1 with STX1A, and as a result, the synaptic vesicle fusion appeared to be controlled through dephosphorylation of STXBP1
  • cell & other
  • N-type Ca2+ channels
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Williams syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS