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FLASH GENE
Symbol STXBP5L contributors: mct - updated : 12-09-2015
HGNC name syntaxin binding protein 5-like
HGNC id 30757
Location 3q13.33      Physical location : 120.627.049 - 121.143.607
Synonym name
  • tomosyn-like
  • lethal(2) giant larvae protein homolog 4
  • tomosyn-2
  • Synonym symbol(s) KIAA1006, LLGL4
    DNA
    TYPE functioning gene
    STRUCTURE 516.56 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 9382 - 1186 - -
    - - 9310 - 1162 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus  
     brain     Homo sapiens
     spinal cord     Homo sapiens
    Respiratoryrespiratory tractlarynx   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral    Homo sapiens
    Nervousperipherous    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal WD domain composed of 10 WD40 repeats,
  • a variable domain containing a further 4 WD40 repeats
  • LGLH1, LGLH2, LGLH3 domains,
  • C-terminal Syntaxin-binding SNARE domain
  • HOMOLOGY
    interspecies homolog to rattus Tomosyn
    intraspecies homolog to STXBP5
    Homologene
    FAMILY
  • WD repeat L(2)GL family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • regulator of epithelial cell polarity
  • is likely a key negative regulator of insulin secretion
  • supports motor performance by regulation of transmitter release willingness to sustain synaptic strength during high-frequency transmission
  • negative regulator of exocytosis, and causes an attenuation of insulin secretion by limiting the formation of the SNARE complex
  • enhanced phosphorylation of a negative regulator of secretion, STXBP5L, in response to insulin secretagogues targets it to degradation by the SYVN1 E3-ubiquitin ligase
  • inhibit neurotransmitter release through inhibition of the formation of the SNARE complexes between synaptic vesicles and the plasma membrane
  • STXBP5L and STXBP5 regulate docking and fusion of synaptic vesicles with the presynaptic membrane, a process of crucial importance for normal neurotransmission (pMID: 25504045)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS